Table 1 TMEM67 sequence variations associated with a wide phenotype spectrum previously reported in the medical literature

c.41G > A

p.Trp14*

E1

JS

[8]

c.175G > C

p.Ala59Pro

E2

CK and DPM*

[6]

c.245C > G

p.Pro82Arg

E2

JS

[4, 9]

c.270 T > G

p.Asn90Lys

E2

JS

[10]

c.274G > A

p.Gly92Arg

E2

MKS

[11]

c.297G > T

p.Lys99Asn

E2

JS, COACH

[4, 9]

c.300C > A

p.Cys100*

E2

JS, COACH

[4, 10]

c.329A > G

p.Asp110Gly

E3

JS

[12, 13]

c.370G > A

p.Glu124Lys

E3

JS

[10]

c.383_384delAC

p.His128fs*140

E3

MKS

[11]

c.387 T > A

p.Cys129*

E3

MKS

[10]

c.389C > G

p.Pro130Arg

E3

COACH

[4]

c.395G > C

p.Gly132Ala

E3

JS, COACH

[12, 14]

c.434 T > G

p.Leu145Trp

E4

COACH

[15]

c.442G > T

p.Ala184Ser

E4

JS

[12]

c.475 T > C

p.Ser159Pro

E4

JS

[12]

c.515G > A

p.Arg172Gln

E5

COACH

[4]

c.517 T > C

p.Cys173Arg

E5

JS

[16]

c.579delA

p.Gly195Aspfs*27

E6

MKS

[10]

c.579_580delAG

p.Gly195Ilefs*13

E6

JS

[9, 17]

c.622A > T

p.Arg208*

E6

RHYNS, MKS, JS, NPHP, ICHF, COACH

[4, 5, 7,8,9, 18,19,20]

c.641A > G

p.Tyr214Cys

E6

ICHF

[18]

c.647delA

p.Glu216fs*221

E6

MKS

[11]

c.675G > A

p.Trp225*

E8

COACH, MKS

[4, 10]

c.722C > G

p.Ala241Gly

E8

JS

[12]

c.725A > G

p.Asn242Ser

E8

JS, COACH

[4, 21, 22]

c.730A > G

p.Thr244Ala

E8

JS

[1]

c.748G > A

p.Gly250Arg

E8

JS

[9]

c.755 T > C

p.Met252Thr

E8

JS, MKS, NPHP

[4, 7, 9, 10, 20]

c.769A > G

p.Met257Val

E8

JS, COACH

[4, 9, 10]

c.797A > C

p.Asp266Ala

E8

JS

[8]

c.869G > T

p.Trp290Leu

E8

NPHP

[23]

c.903C > G

p.Asp301Glu

E9

JS

[10]

c.934 T > C

p.Ser312Pro

E9

JS

[16]

c.950C > G

p.Thr317Arg

E9

JS

[9, 17]

c.986A > C

p.Lys329Thr

E10

NPHP

[7]

c.1027 T > G

p.Phe343Val

E10

CK and DPM*

[6]

c.1045 T > C

p.Leu349Ser

E10

NPHP

[7]

c.1046 T > C

p.Leu349Ser

E10

COACH, MKS

[4, 10, 20]

c.1063C > T

p.Gln355*

E10

CK and DPM*

[6]

c.1073 T > C

p.Pro358Leu

E11

JS, COACH

[4, 10]

c.1077_1078del

p.Thr360Argfs*18

E11

JS

[10]

c.1081G > T

p.Glu361*

E11

JS, COACH

[4, 9]

c.1115C > A

p.Thr372Lys

E11

JS, COACH

[4, 8, 10]

c.1126C > G

p.Gln376Glu

E11

JS, COACH

[4, 9]

c.1127A > C

p.Gln376Pro

E11

MKS

[11]

c.1285C > T

p.Gln429*

E12

JS

[10]

c.1289A > G

p.Asp430Gly

E13

RHYNS, NPHP

[5, 19]

c.1319G > A

p.Arg440Gln

E13

MKS

[10, 20]

c.1321C > T

p.Arg441Cys

E13

COACH

[4]

c.1322G > T

p.Arg441Leu

E13

MKS

[10]

c.1336G > C

p.Asp446His

E13

MKS

[20]

c.1351C > T

p.Arg451*

E13

JS, NPHP, COACH

[4, 7, 9]

c.1387C > T

p.Arg463*

E13

NPHP

[7]

c.1392C > T

p.Arg441Cys

E13

MKS

[11]

c.1438A > G

p.Tyr513Cys

E15

COACH

[4]

c.1453C > T

p.Pro458Ser

E15

COACH

[4]

c.1536_1537del

p.Tyr513*

E15

JS

[12]

c.1538A > G

p.Tyr513Cys

E15

JS, COACH

[4, 9, 10, 24]

c.1538_1539delAT

p.Tyr513*

E15

MKS

[10]

c.1634G > A

p.Gly545Glu

E16

JS

[24]

c.1645C > T

p.Arg549Cys

E16

MKS

[11, 25]

c.1706G > A

p.Gly569Asp

E17

JS

[10]

c.1715C > T

p.Ala572Val

E17

CK and DPM*

[6]

c.1769 T > C

p.Phe590Ser

E17

JS

[10]

c.1675-?_2241 +?del

p.T559_Q747del

E17_E21

MKS

[20]

c.1843 T > C

p.Cys615Arg

E18

JS, COACH, NPHP, MKS

[4, 7, 9, 23, 26]

c.1847C > T

p.Ala616Val

E18

JS

[10]

c.1975 T > C

p.Ser659Pro

E20

JS, COACH

[4]

c.2002 T > C

p.Trp668Arg

E20

MKS

[10]

c.2018 T > C

p.Val673Ala

E20

NPHP

[7]

c.2086C > T

p.Leu696Phe

E20

JS

[1]

c.2290C > T

p.Arg764*

E22

JS

[12]

c.2301delT

p.Asp768Ilefs*5

E23

MKS

[10]

c.2311 T > C

p.Ser771Pro

E23

JS

[12]

c.2345A > G

p.His782Arg

E23

JS

[27]

c.2357G > A

p.Gly786Glu

E23

MKS

[10]

c.2368C > A

p.His790Asn

E23

JS

[1]

c.2413C > T

p.Arg805*

E23

JS, COACH

[4]

c.2439G > A

p.Ala813Ala

E23

MKS

[20]

c.2461G > A

p.Gly821Ser

E24

NPHP

[23]

c.2497 T > C

p.Ile833Thr

E24

COACH

[4]

c. 2498 T > C

p.Ile833Thr

E24

JS, COACH, NPHP

[4, 7,8,9,10, 19]

c.2522A > C

p.Gln841Pro

E24

JS, COACH

[4, 9, 12, 28]

c.2528A > G

p.Tyr843Cys

E24

MKS

[10]

c.2542G > T

p.Glu848*

E24

MKS

[10]

c.2557A > T

p.Lys853*

E25

MKS

[20]

c.2561dupA

p.Asn854Lysfs*5

E25

MKS

[10]

c.2689_2690insTA

p.Leu897Ilefs*64

E26

MKS

[10]

c.2758delT

p.Tyr920Thrfs*40

E26

JS, COACH

[14, 21, 22]

c.2801G > A

p.Gly934Glu

E27

JS

[1]

c.2802delA

p.Gly934Glyfs*26

E27

JS, COACH

[4, 9]

c.2825 T > G

p.Phe942Cys

E27

COACH

[4]

c.2879C > T

p.Ala960Val

E27

JS

[9]

c.2891C > T

p.Thr964Ile

E27

NPHP

[7]

c.3145C > T

p.Arg1049*

E28

COACH

[4]

c.3347C > T

p.Thr1116Met

E28

COACH

[4]