ClinVar for MedGen (Select 1385152) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Result Filters

Links from MedGen

Items: 1 to 100 of 335

<< First< Prev

Page of 4

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24371851.	NM_015602.4(TOR1AIP1):c.1199G>A (p.Ser400Asn) GRCh37: Chr1:179886821 GRCh38: Chr1:179917686	TOR1AIP1	S400N, S401N	Autosomal recessive limb-girdle muscular dystrophy type 2Y	Uncertain significance (Jul 31, 2019)	criteria provided, single submitter
Select item 24371842.	NM_015602.4(TOR1AIP1):c.1419G>T (p.Gln473His) GRCh37: Chr1:179887041 GRCh38: Chr1:179917906	TOR1AIP1	Q473H, Q474H	Autosomal recessive limb-girdle muscular dystrophy type 2Y	Uncertain significance (Jun 23, 2021)	criteria provided, single submitter
Select item 24371833.	NM_015602.4(TOR1AIP1):c.507C>A (p.Ser169Arg) GRCh37: Chr1:179853858 GRCh38: Chr1:179884723	TOR1AIP1	S169R	Autosomal recessive limb-girdle muscular dystrophy type 2Y	Uncertain significance (Dec 8, 2019)	criteria provided, single submitter
Select item 24371824.	NM_015602.4(TOR1AIP1):c.666A>T (p.Glu222Asp) GRCh37: Chr1:179870450 GRCh38: Chr1:179901315	TOR1AIP1	E222D, E223D	Autosomal recessive limb-girdle muscular dystrophy type 2Y	Uncertain significance (May 6, 2019)	criteria provided, single submitter
Select item 24371815.	NM_015602.4(TOR1AIP1):c.1133dup (p.Tyr379fs) GRCh37: Chr1:179886753-179886754 GRCh38: Chr1:179917618-179917619	TOR1AIP1	Y379fs, Y380fs	Autosomal recessive limb-girdle muscular dystrophy type 2Y	Uncertain significance (May 30, 2019)	criteria provided, single submitter
Select item 24371806.	NM_015602.4(TOR1AIP1):c.11A>G (p.Asp4Gly) GRCh37: Chr1:179851648 GRCh38: Chr1:179882513	TOR1AIP1, LOC112577517	D4G	Autosomal recessive limb-girdle muscular dystrophy type 2Y	Uncertain significance (Apr 11, 2019)	criteria provided, single submitter
Select item 24371797.	NM_015602.4(TOR1AIP1):c.326G>A (p.Arg109Lys) GRCh37: Chr1:179851963 GRCh38: Chr1:179882828	LOC112577517, TOR1AIP1	R109K	Autosomal recessive limb-girdle muscular dystrophy type 2Y	Uncertain significance (Feb 6, 2019)	criteria provided, single submitter
Select item 24371788.	NM_015602.4(TOR1AIP1):c.65G>A (p.Arg22Lys) GRCh37: Chr1:179851702 GRCh38: Chr1:179882567	LOC112577517, TOR1AIP1	R22K	Autosomal recessive limb-girdle muscular dystrophy type 2Y	Uncertain significance (Apr 1, 2019)	criteria provided, single submitter
Select item 24213309.	NM_015602.4(TOR1AIP1):c.249A>C (p.Lys83Asn) GRCh37: Chr1:179851886 GRCh38: Chr1:179882751	LOC112577517, TOR1AIP1	K83N	Autosomal recessive limb-girdle muscular dystrophy type 2Y	Uncertain significance (Mar 19, 2022)	criteria provided, single submitter
Select item 241809710.	NM_015602.4(TOR1AIP1):c.838+11G>A GRCh37: Chr1:179877010 GRCh38: Chr1:179907875	TOR1AIP1		Autosomal recessive limb-girdle muscular dystrophy type 2Y	Likely benign (Feb 4, 2022)	criteria provided, single submitter
Select item 241658211.	NM_015602.4(TOR1AIP1):c.485C>T (p.Ala162Val) GRCh37: Chr1:179853836 GRCh38: Chr1:179884701	TOR1AIP1	A162V	Autosomal recessive limb-girdle muscular dystrophy type 2Y	Uncertain significance (Aug 6, 2022)	criteria provided, single submitter
Select item 241562712.	NM_015602.4(TOR1AIP1):c.1052G>C (p.Ser351Thr) GRCh37: Chr1:179886674 GRCh38: Chr1:179917539	TOR1AIP1	S351T, S352T	Autosomal recessive limb-girdle muscular dystrophy type 2Y	Uncertain significance (Feb 22, 2022)	criteria provided, single submitter
Select item 219297813.	NM_015602.4(TOR1AIP1):c.476-20_476-19del GRCh37: Chr1:179853807-179853808 GRCh38: Chr1:179884672-179884673	TOR1AIP1		Autosomal recessive limb-girdle muscular dystrophy type 2Y	Likely benign (Oct 25, 2022)	criteria provided, single submitter
Select item 219215114.	NM_015602.4(TOR1AIP1):c.93G>A (p.Arg31=) GRCh37: Chr1:179851730 GRCh38: Chr1:179882595	LOC112577517, TOR1AIP1		Autosomal recessive limb-girdle muscular dystrophy type 2Y	Likely benign (Jul 1, 2022)	criteria provided, single submitter
Select item 218302115.	NM_015602.4(TOR1AIP1):c.476-20T>G GRCh37: Chr1:179853807 GRCh38: Chr1:179884672	TOR1AIP1		Autosomal recessive limb-girdle muscular dystrophy type 2Y	Likely benign (Jul 25, 2022)	criteria provided, single submitter
Select item 218300916.	NM_015602.4(TOR1AIP1):c.360G>T (p.Glu120Asp) GRCh37: Chr1:179851997 GRCh38: Chr1:179882862	LOC112577517, TOR1AIP1	E120D	Autosomal recessive limb-girdle muscular dystrophy type 2Y	Uncertain significance (Jul 15, 2022)	criteria provided, single submitter
Select item 217452417.	NM_015602.4(TOR1AIP1):c.140C>T (p.Thr47Ile) GRCh37: Chr1:179851777 GRCh38: Chr1:179882642	LOC112577517, TOR1AIP1	T47I	Autosomal recessive limb-girdle muscular dystrophy type 2Y	Uncertain significance (Jul 23, 2022)	criteria provided, single submitter
Select item 217038718.	NM_015602.4(TOR1AIP1):c.751A>G (p.Arg251Gly) GRCh37: Chr1:179873112 GRCh38: Chr1:179903977	TOR1AIP1	R251G, R252G	Autosomal recessive limb-girdle muscular dystrophy type 2Y	Uncertain significance (Jul 4, 2022)	criteria provided, single submitter
Select item 216604019.	NM_015602.4(TOR1AIP1):c.1062C>T (p.Phe354=) GRCh37: Chr1:179886684 GRCh38: Chr1:179917549	TOR1AIP1		Autosomal recessive limb-girdle muscular dystrophy type 2Y	Likely benign (Apr 9, 2022)	criteria provided, single submitter
Select item 216594020.	NM_015602.4(TOR1AIP1):c.134A>C (p.Tyr45Ser) GRCh37: Chr1:179851771 GRCh38: Chr1:179882636	LOC112577517, TOR1AIP1	Y45S	Autosomal recessive limb-girdle muscular dystrophy type 2Y	Uncertain significance (Aug 31, 2022)	criteria provided, single submitter
Select item 216573621.	NM_015602.4(TOR1AIP1):c.540A>C (p.Ile180=) GRCh37: Chr1:179853891 GRCh38: Chr1:179884756	TOR1AIP1		Autosomal recessive limb-girdle muscular dystrophy type 2Y	Likely benign (Aug 19, 2022)	criteria provided, single submitter
Select item 216502822.	NM_015602.4(TOR1AIP1):c.137G>A (p.Arg46Lys) GRCh37: Chr1:179851774 GRCh38: Chr1:179882639	LOC112577517, TOR1AIP1	R46K	Autosomal recessive limb-girdle muscular dystrophy type 2Y	Uncertain significance (Jul 9, 2022)	criteria provided, single submitter
Select item 216259723.	NM_015602.4(TOR1AIP1):c.408G>A (p.Glu136=) GRCh37: Chr1:179852045 GRCh38: Chr1:179882910	LOC112577517, TOR1AIP1		Autosomal recessive limb-girdle muscular dystrophy type 2Y	Likely benign (Sep 13, 2022)	criteria provided, single submitter
Select item 216199824.	NM_015602.4(TOR1AIP1):c.93G>C (p.Arg31=) GRCh37: Chr1:179851730 GRCh38: Chr1:179882595	LOC112577517, TOR1AIP1		Autosomal recessive limb-girdle muscular dystrophy type 2Y	Likely benign (Jan 20, 2022)	criteria provided, single submitter
Select item 216145825.	NM_015602.4(TOR1AIP1):c.553+14A>G GRCh37: Chr1:179853918 GRCh38: Chr1:179884783	TOR1AIP1		Autosomal recessive limb-girdle muscular dystrophy type 2Y	Likely benign (Sep 27, 2022)	criteria provided, single submitter
Select item 215981126.	NM_015602.4(TOR1AIP1):c.81G>A (p.Glu27=) GRCh37: Chr1:179851718 GRCh38: Chr1:179882583	TOR1AIP1, LOC112577517		Autosomal recessive limb-girdle muscular dystrophy type 2Y	Likely benign (Sep 12, 2022)	criteria provided, single submitter
Select item 215771227.	NM_015602.4(TOR1AIP1):c.1037C>A (p.Ala346Asp) GRCh37: Chr1:179886659 GRCh38: Chr1:179917524	TOR1AIP1	A346D, A347D	Inborn genetic diseases, Autosomal recessive limb-girdle muscular dystrophy type 2Y	Uncertain significance (Feb 10, 2022)	criteria provided, multiple submitters, no conflicts
Select item 215544728.	NM_015602.4(TOR1AIP1):c.1244C>T (p.Ala415Val) GRCh37: Chr1:179886866 GRCh38: Chr1:179917731	TOR1AIP1	A416V, A415V	Autosomal recessive limb-girdle muscular dystrophy type 2Y	Uncertain significance (Oct 3, 2022)	criteria provided, single submitter
Select item 215411429.	NM_015602.4(TOR1AIP1):c.1248A>C (p.Arg416=) GRCh37: Chr1:179886870 GRCh38: Chr1:179917735	TOR1AIP1		Autosomal recessive limb-girdle muscular dystrophy type 2Y	Likely benign (Aug 10, 2022)	criteria provided, single submitter
Select item 215154630.	NM_015602.4(TOR1AIP1):c.839-16T>C GRCh37: Chr1:179877724 GRCh38: Chr1:179908589	TOR1AIP1		Autosomal recessive limb-girdle muscular dystrophy type 2Y	Likely benign (Feb 21, 2022)	criteria provided, single submitter
Select item 215047831.	NM_015602.4(TOR1AIP1):c.652+18A>G GRCh37: Chr1:179869320 GRCh38: Chr1:179900185	TOR1AIP1		Autosomal recessive limb-girdle muscular dystrophy type 2Y	Uncertain significance (May 28, 2022)	criteria provided, single submitter
Select item 215016732.	NM_015602.4(TOR1AIP1):c.290A>G (p.Glu97Gly) GRCh37: Chr1:179851927 GRCh38: Chr1:179882792	LOC112577517, TOR1AIP1	E97G	Autosomal recessive limb-girdle muscular dystrophy type 2Y	Uncertain significance (Aug 5, 2022)	criteria provided, single submitter
Select item 214932133.	NM_015602.4(TOR1AIP1):c.271C>T (p.Arg91Trp) GRCh37: Chr1:179851908 GRCh38: Chr1:179882773	LOC112577517, TOR1AIP1	R91W	Autosomal recessive limb-girdle muscular dystrophy type 2Y	Uncertain significance (Jan 3, 2022)	criteria provided, single submitter
Select item 214804134.	NM_015602.4(TOR1AIP1):c.184G>A (p.Glu62Lys) GRCh37: Chr1:179851821 GRCh38: Chr1:179882686	LOC112577517, TOR1AIP1	E62K	Autosomal recessive limb-girdle muscular dystrophy type 2Y	Uncertain significance (Jun 11, 2022)	criteria provided, single submitter
Select item 214630535.	NM_015602.4(TOR1AIP1):c.1211G>A (p.Arg404Gln) GRCh37: Chr1:179886833 GRCh38: Chr1:179917698	TOR1AIP1	R404Q, R405Q	Autosomal recessive limb-girdle muscular dystrophy type 2Y	Uncertain significance (Jan 11, 2022)	criteria provided, multiple submitters, no conflicts
Select item 213262536.	NM_015602.4(TOR1AIP1):c.1721_1722insT (p.Glu574fs) GRCh37: Chr1:179887343-179887344 GRCh38: Chr1:179918208-179918209	TOR1AIP1	E574fs, E575fs	Autosomal recessive limb-girdle muscular dystrophy type 2Y	Uncertain significance (May 3, 2022)	criteria provided, single submitter
Select item 212288537.	NM_015602.4(TOR1AIP1):c.1197T>C (p.Asn399=) GRCh37: Chr1:179886819 GRCh38: Chr1:179917684	TOR1AIP1		Autosomal recessive limb-girdle muscular dystrophy type 2Y	Likely benign (Aug 9, 2022)	criteria provided, single submitter
Select item 210920138.	NM_015602.4(TOR1AIP1):c.1078G>A (p.Val360Ile) GRCh37: Chr1:179886700 GRCh38: Chr1:179917565	TOR1AIP1	V360I, V361I	Autosomal recessive limb-girdle muscular dystrophy type 2Y	Uncertain significance (Jul 15, 2022)	criteria provided, single submitter
Select item 210761839.	NM_015602.4(TOR1AIP1):c.304A>G (p.Ser102Gly) GRCh37: Chr1:179851941 GRCh38: Chr1:179882806	LOC112577517, TOR1AIP1	S102G	Autosomal recessive limb-girdle muscular dystrophy type 2Y	Uncertain significance (May 30, 2022)	criteria provided, single submitter
Select item 210204240.	NM_015602.4(TOR1AIP1):c.1344T>G (p.Asp448Glu) GRCh37: Chr1:179886966 GRCh38: Chr1:179917831	TOR1AIP1	D449E, D448E	Autosomal recessive limb-girdle muscular dystrophy type 2Y	Uncertain significance (Mar 4, 2022)	criteria provided, single submitter
Select item 208376941.	NM_015602.4(TOR1AIP1):c.838+2T>A GRCh37: Chr1:179877001 GRCh38: Chr1:179907866	TOR1AIP1		Autosomal recessive limb-girdle muscular dystrophy type 2Y	Likely pathogenic (Aug 9, 2022)	criteria provided, single submitter
Select item 208179142.	NM_015602.4(TOR1AIP1):c.1088C>G (p.Thr363Ser) GRCh37: Chr1:179886710 GRCh38: Chr1:179917575	TOR1AIP1	T364S, T363S	Autosomal recessive limb-girdle muscular dystrophy type 2Y	Uncertain significance (Jun 14, 2022)	criteria provided, single submitter
Select item 207958243.	NM_015602.4(TOR1AIP1):c.964C>T (p.Gln322Ter) GRCh37: Chr1:179883189 GRCh38: Chr1:179914054	TOR1AIP1	Q322, Q323	Autosomal recessive limb-girdle muscular dystrophy type 2Y	Uncertain significance (Aug 16, 2022)	criteria provided, single submitter
Select item 207889644.	NM_015602.4(TOR1AIP1):c.126G>A (p.Ala42=) GRCh37: Chr1:179851763 GRCh38: Chr1:179882628	LOC112577517, TOR1AIP1		Autosomal recessive limb-girdle muscular dystrophy type 2Y	Likely benign (Dec 10, 2021)	criteria provided, single submitter
Select item 205992745.	NM_015602.4(TOR1AIP1):c.1334A>T (p.Asp445Val) GRCh37: Chr1:179886956 GRCh38: Chr1:179917821	TOR1AIP1	D445V, D446V	Autosomal recessive limb-girdle muscular dystrophy type 2Y	Uncertain significance (Dec 25, 2021)	criteria provided, single submitter
Select item 205730346.	NM_015602.4(TOR1AIP1):c.7G>A (p.Gly3Ser) GRCh37: Chr1:179851644 GRCh38: Chr1:179882509	LOC112577517, TOR1AIP1	G3S	Autosomal recessive limb-girdle muscular dystrophy type 2Y	Uncertain significance (Jul 16, 2022)	criteria provided, multiple submitters, no conflicts
Select item 204837047.	NM_015602.4(TOR1AIP1):c.653G>C (p.Gly218Ala) GRCh37: Chr1:179870437 GRCh38: Chr1:179901302	TOR1AIP1	G218A, G219A	Autosomal recessive limb-girdle muscular dystrophy type 2Y	Uncertain significance (Dec 19, 2021)	criteria provided, single submitter
Select item 204322548.	NM_015602.4(TOR1AIP1):c.584G>A (p.Arg195Gln) GRCh37: Chr1:179858478 GRCh38: Chr1:179889343	TOR1AIP1	R195Q, R196Q	Autosomal recessive limb-girdle muscular dystrophy type 2Y	Uncertain significance (Jul 23, 2022)	criteria provided, single submitter
Select item 204065949.	NM_015602.4(TOR1AIP1):c.964+1G>C GRCh37: Chr1:179883190 GRCh38: Chr1:179914055	TOR1AIP1		Autosomal recessive limb-girdle muscular dystrophy type 2Y	Uncertain significance (May 3, 2022)	criteria provided, single submitter
Select item 203159050.	NM_015602.4(TOR1AIP1):c.476-3dup GRCh37: Chr1:179853818-179853819 GRCh38: Chr1:179884683-179884684	TOR1AIP1		Autosomal recessive limb-girdle muscular dystrophy type 2Y	Benign (Sep 28, 2022)	criteria provided, single submitter
Select item 202749251.	NM_015602.4(TOR1AIP1):c.259C>T (p.Leu87=) GRCh37: Chr1:179851896 GRCh38: Chr1:179882761	LOC112577517, TOR1AIP1		Autosomal recessive limb-girdle muscular dystrophy type 2Y	Likely benign (Aug 27, 2022)	criteria provided, single submitter
Select item 202117652.	NM_015602.4(TOR1AIP1):c.1279del (p.Glu427fs) GRCh37: Chr1:179886901 GRCh38: Chr1:179917766	TOR1AIP1	E428fs, E427fs	Autosomal recessive limb-girdle muscular dystrophy type 2Y	Uncertain significance (Aug 2, 2022)	criteria provided, single submitter
Select item 202081253.	NM_015602.4(TOR1AIP1):c.261A>G (p.Leu87=) GRCh37: Chr1:179851898 GRCh38: Chr1:179882763	LOC112577517, TOR1AIP1		Autosomal recessive limb-girdle muscular dystrophy type 2Y	Likely benign (Aug 2, 2022)	criteria provided, single submitter
Select item 201069554.	NM_015602.4(TOR1AIP1):c.527C>G (p.Thr176Ser) GRCh37: Chr1:179853878 GRCh38: Chr1:179884743	TOR1AIP1	T176S	Autosomal recessive limb-girdle muscular dystrophy type 2Y	Uncertain significance (Jun 25, 2022)	criteria provided, single submitter
Select item 200675255.	NM_015602.4(TOR1AIP1):c.267G>C (p.Glu89Asp) GRCh37: Chr1:179851904 GRCh38: Chr1:179882769	LOC112577517, TOR1AIP1	E89D	Autosomal recessive limb-girdle muscular dystrophy type 2Y	Uncertain significance (Jun 17, 2022)	criteria provided, single submitter
Select item 199602256.	NM_015602.4(TOR1AIP1):c.114C>T (p.Gly38=) GRCh37: Chr1:179851751 GRCh38: Chr1:179882616	LOC112577517, TOR1AIP1		Autosomal recessive limb-girdle muscular dystrophy type 2Y	Likely benign (May 25, 2022)	criteria provided, single submitter
Select item 199412757.	NM_015602.4(TOR1AIP1):c.895A>G (p.Thr299Ala) GRCh37: Chr1:179877796 GRCh38: Chr1:179908661	TOR1AIP1	T299A, T300A	Autosomal recessive limb-girdle muscular dystrophy type 2Y	Uncertain significance (May 13, 2022)	criteria provided, single submitter
Select item 198985858.	NM_015602.4(TOR1AIP1):c.633G>A (p.Lys211=) GRCh37: Chr1:179869283 GRCh38: Chr1:179900148	TOR1AIP1		Autosomal recessive limb-girdle muscular dystrophy type 2Y	Likely benign (Jan 2, 2022)	criteria provided, single submitter
Select item 198854459.	NM_015602.4(TOR1AIP1):c.1065T>C (p.Phe355=) GRCh37: Chr1:179886687 GRCh38: Chr1:179917552	TOR1AIP1		Autosomal recessive limb-girdle muscular dystrophy type 2Y	Likely benign (Jan 31, 2022)	criteria provided, single submitter
Select item 198585860.	NM_015602.4(TOR1AIP1):c.554-12del GRCh37: Chr1:179858435 GRCh38: Chr1:179889300	TOR1AIP1		Autosomal recessive limb-girdle muscular dystrophy type 2Y	Likely benign (Mar 16, 2022)	criteria provided, single submitter
Select item 198560561.	NM_015602.4(TOR1AIP1):c.653-6C>A GRCh37: Chr1:179870431 GRCh38: Chr1:179901296	TOR1AIP1		Autosomal recessive limb-girdle muscular dystrophy type 2Y	Likely benign (Jan 3, 2022)	criteria provided, single submitter
Select item 198324162.	NM_015602.4(TOR1AIP1):c.339G>T (p.Gln113His) GRCh37: Chr1:179851976 GRCh38: Chr1:179882841	LOC112577517, TOR1AIP1	Q113H	Autosomal recessive limb-girdle muscular dystrophy type 2Y	Uncertain significance (Mar 3, 2022)	criteria provided, single submitter
Select item 198190163.	NM_015602.4(TOR1AIP1):c.416C>G (p.Pro139Arg) GRCh37: Chr1:179852053 GRCh38: Chr1:179882918	LOC112577517, TOR1AIP1	P139R	Autosomal recessive limb-girdle muscular dystrophy type 2Y	Uncertain significance (Apr 4, 2022)	criteria provided, single submitter
Select item 197601864.	NM_015602.4(TOR1AIP1):c.411G>A (p.Gln137=) GRCh37: Chr1:179852048 GRCh38: Chr1:179882913	LOC112577517, TOR1AIP1		Autosomal recessive limb-girdle muscular dystrophy type 2Y	Likely benign (Aug 9, 2022)	criteria provided, single submitter
Select item 197549665.	NM_015602.4(TOR1AIP1):c.770T>C (p.Ile257Thr) GRCh37: Chr1:179873131 GRCh38: Chr1:179903996	TOR1AIP1	I258T, I257T	Autosomal recessive limb-girdle muscular dystrophy type 2Y	Uncertain significance (Jun 10, 2022)	criteria provided, single submitter
Select item 197529866.	NM_015602.4(TOR1AIP1):c.701C>T (p.Thr234Ile) GRCh37: Chr1:179870485 GRCh38: Chr1:179901350	TOR1AIP1	T235I, T234I	Autosomal recessive limb-girdle muscular dystrophy type 2Y	Uncertain significance (May 9, 2022)	criteria provided, single submitter
Select item 197455967.	NM_015602.4(TOR1AIP1):c.276C>T (p.Ser92=) GRCh37: Chr1:179851913 GRCh38: Chr1:179882778	LOC112577517, TOR1AIP1		Autosomal recessive limb-girdle muscular dystrophy type 2Y	Likely benign (Jul 19, 2022)	criteria provided, single submitter
Select item 197235468.	NM_015602.4(TOR1AIP1):c.1688G>T (p.Arg563Leu) GRCh37: Chr1:179887310 GRCh38: Chr1:179918175	TOR1AIP1	R563L, R564L	Autosomal recessive limb-girdle muscular dystrophy type 2Y	Uncertain significance (Dec 16, 2021)	criteria provided, single submitter
Select item 197235169.	NM_015602.4(TOR1AIP1):c.81G>C (p.Glu27Asp) GRCh37: Chr1:179851718 GRCh38: Chr1:179882583	LOC112577517, TOR1AIP1	E27D	Autosomal recessive limb-girdle muscular dystrophy type 2Y	Uncertain significance (Jul 6, 2022)	criteria provided, single submitter
Select item 196991170.	NM_015602.4(TOR1AIP1):c.147G>A (p.Pro49=) GRCh37: Chr1:179851784 GRCh38: Chr1:179882649	LOC112577517, TOR1AIP1		Autosomal recessive limb-girdle muscular dystrophy type 2Y	Likely benign (Sep 27, 2022)	criteria provided, single submitter
Select item 196833871.	NM_015602.4(TOR1AIP1):c.251G>T (p.Arg84Leu) GRCh37: Chr1:179851888 GRCh38: Chr1:179882753	LOC112577517, TOR1AIP1	R84L	Autosomal recessive limb-girdle muscular dystrophy type 2Y	Uncertain significance (Mar 29, 2022)	criteria provided, single submitter
Select item 195999372.	NM_015602.4(TOR1AIP1):c.1044C>G (p.Ala348=) GRCh37: Chr1:179886666 GRCh38: Chr1:179917531	TOR1AIP1		Autosomal recessive limb-girdle muscular dystrophy type 2Y	Likely benign (Mar 18, 2022)	criteria provided, single submitter
Select item 194783873.	NM_015602.4(TOR1AIP1):c.653-8C>T GRCh37: Chr1:179870429 GRCh38: Chr1:179901294	TOR1AIP1		Autosomal recessive limb-girdle muscular dystrophy type 2Y	Likely benign (May 29, 2022)	criteria provided, single submitter
Select item 194683574.	NM_015602.4(TOR1AIP1):c.1020A>G (p.Leu340=) GRCh37: Chr1:179886642 GRCh38: Chr1:179917507	TOR1AIP1		Autosomal recessive limb-girdle muscular dystrophy type 2Y	Likely benign (Mar 11, 2022)	criteria provided, single submitter
Select item 194228475.	NM_015602.4(TOR1AIP1):c.15G>A (p.Gly5=) GRCh37: Chr1:179851652 GRCh38: Chr1:179882517	LOC112577517, TOR1AIP1		Autosomal recessive limb-girdle muscular dystrophy type 2Y	Likely benign (Jun 27, 2022)	criteria provided, single submitter
Select item 193682576.	NM_015602.4(TOR1AIP1):c.653-17T>C GRCh37: Chr1:179870420 GRCh38: Chr1:179901285	TOR1AIP1		Autosomal recessive limb-girdle muscular dystrophy type 2Y	Likely benign (Aug 2, 2022)	criteria provided, single submitter
Select item 193680777.	NM_015602.4(TOR1AIP1):c.1036G>A (p.Ala346Thr) GRCh37: Chr1:179886658 GRCh38: Chr1:179917523	TOR1AIP1	A346T, A347T	Autosomal recessive limb-girdle muscular dystrophy type 2Y	Uncertain significance (Apr 7, 2022)	criteria provided, single submitter
Select item 193538478.	NM_015602.4(TOR1AIP1):c.444G>A (p.Arg148=) GRCh37: Chr1:179852081 GRCh38: Chr1:179882946	LOC112577517, TOR1AIP1		Autosomal recessive limb-girdle muscular dystrophy type 2Y	Likely benign (Apr 10, 2022)	criteria provided, single submitter
Select item 192891779.	NM_015602.4(TOR1AIP1):c.1250A>T (p.Asp417Val) GRCh37: Chr1:179886872 GRCh38: Chr1:179917737	TOR1AIP1	D417V, D418V	Autosomal recessive limb-girdle muscular dystrophy type 2Y	Uncertain significance (Aug 23, 2022)	criteria provided, single submitter
Select item 191097080.	NM_015602.4(TOR1AIP1):c.4G>A (p.Ala2Thr) GRCh37: Chr1:179851641 GRCh38: Chr1:179882506	LOC112577517, TOR1AIP1	A2T	Autosomal recessive limb-girdle muscular dystrophy type 2Y	Uncertain significance (Jul 29, 2022)	criteria provided, single submitter
Select item 190841281.	NM_015602.4(TOR1AIP1):c.1389A>G (p.Gln463=) GRCh37: Chr1:179887011 GRCh38: Chr1:179917876	TOR1AIP1		Autosomal recessive limb-girdle muscular dystrophy type 2Y	Likely benign (May 21, 2022)	criteria provided, single submitter
Select item 190307582.	NM_015602.4(TOR1AIP1):c.444G>T (p.Arg148Ser) GRCh37: Chr1:179852081 GRCh38: Chr1:179882946	LOC112577517, TOR1AIP1	R148S	Autosomal recessive limb-girdle muscular dystrophy type 2Y	Uncertain significance (May 27, 2022)	criteria provided, single submitter
Select item 190299883.	NM_015602.4(TOR1AIP1):c.739+17T>C GRCh37: Chr1:179870540 GRCh38: Chr1:179901405	TOR1AIP1		Autosomal recessive limb-girdle muscular dystrophy type 2Y	Likely benign (Jun 27, 2022)	criteria provided, single submitter
Select item 190140584.	NM_015602.4(TOR1AIP1):c.1471A>T (p.Ile491Phe) GRCh37: Chr1:179887093 GRCh38: Chr1:179917958	TOR1AIP1	I491F, I492F	Autosomal recessive limb-girdle muscular dystrophy type 2Y	Uncertain significance (Apr 28, 2022)	criteria provided, single submitter
Select item 190005485.	NM_015602.4(TOR1AIP1):c.179C>G (p.Ser60Trp) GRCh37: Chr1:179851816 GRCh38: Chr1:179882681	LOC112577517, TOR1AIP1	S60W	Autosomal recessive limb-girdle muscular dystrophy type 2Y	Uncertain significance (Apr 12, 2022)	criteria provided, single submitter
Select item 171380386.	NM_015602.4(TOR1AIP1):c.68C>A (p.Ala23Asp) GRCh37: Chr1:179851705 GRCh38: Chr1:179882570	LOC112577517, TOR1AIP1	A23D	Autosomal recessive limb-girdle muscular dystrophy type 2Y	Uncertain significance (Aug 4, 2022)	criteria provided, single submitter
Select item 165416087.	NM_015602.4(TOR1AIP1):c.285G>A (p.Ala95=) GRCh37: Chr1:179851922 GRCh38: Chr1:179882787	LOC112577517, TOR1AIP1		Autosomal recessive limb-girdle muscular dystrophy type 2Y	Likely benign (Jun 13, 2021)	criteria provided, single submitter
Select item 164005888.	NM_015602.4(TOR1AIP1):c.696C>G (p.Val232=) GRCh37: Chr1:179870480 GRCh38: Chr1:179901345	TOR1AIP1		Autosomal recessive limb-girdle muscular dystrophy type 2Y	Likely benign (Nov 3, 2022)	criteria provided, single submitter
Select item 163151089.	NM_015602.4(TOR1AIP1):c.1416C>A (p.Gly472=) GRCh37: Chr1:179887038 GRCh38: Chr1:179917903	TOR1AIP1		Autosomal recessive limb-girdle muscular dystrophy type 2Y	Likely benign (Nov 15, 2020)	criteria provided, single submitter
Select item 163041990.	NM_015602.4(TOR1AIP1):c.839-13G>A GRCh37: Chr1:179877727 GRCh38: Chr1:179908592	TOR1AIP1		Autosomal recessive limb-girdle muscular dystrophy type 2Y	Likely benign (Sep 29, 2021)	criteria provided, single submitter
Select item 161066391.	NM_015602.4(TOR1AIP1):c.357C>G (p.Thr119=) GRCh37: Chr1:179851994 GRCh38: Chr1:179882859	LOC112577517, TOR1AIP1		Autosomal recessive limb-girdle muscular dystrophy type 2Y	Likely benign (Jul 21, 2021)	criteria provided, single submitter
Select item 160428092.	NM_015602.4(TOR1AIP1):c.540A>T (p.Ile180=) GRCh37: Chr1:179853891 GRCh38: Chr1:179884756	TOR1AIP1		Autosomal recessive limb-girdle muscular dystrophy type 2Y	Likely benign (Jun 20, 2022)	criteria provided, single submitter
Select item 160254393.	NM_015602.4(TOR1AIP1):c.554-23G>A GRCh37: Chr1:179858425 GRCh38: Chr1:179889290	TOR1AIP1		Autosomal recessive limb-girdle muscular dystrophy type 2Y	Likely benign (Oct 22, 2022)	criteria provided, single submitter
Select item 160195294.	NM_015602.4(TOR1AIP1):c.537C>T (p.Ser179=) GRCh37: Chr1:179853888 GRCh38: Chr1:179884753	TOR1AIP1		Autosomal recessive limb-girdle muscular dystrophy type 2Y	Likely benign (Jun 8, 2022)	criteria provided, single submitter
Select item 159821195.	NM_015602.4(TOR1AIP1):c.611-8dup GRCh37: Chr1:179869247-179869248 GRCh38: Chr1:179900112-179900113	TOR1AIP1		Autosomal recessive limb-girdle muscular dystrophy type 2Y	Benign (Mar 22, 2022)	criteria provided, single submitter
Select item 159755796.	NM_015602.4(TOR1AIP1):c.611-17A>G GRCh37: Chr1:179869244 GRCh38: Chr1:179900109	TOR1AIP1		Autosomal recessive limb-girdle muscular dystrophy type 2Y	Likely benign (Sep 3, 2021)	criteria provided, single submitter
Select item 158757197.	NM_015602.4(TOR1AIP1):c.678C>T (p.Asp226=) GRCh37: Chr1:179870462 GRCh38: Chr1:179901327	TOR1AIP1		Autosomal recessive limb-girdle muscular dystrophy type 2Y	Likely benign (Aug 16, 2022)	criteria provided, single submitter
Select item 158083798.	NM_015602.4(TOR1AIP1):c.965-15T>C GRCh37: Chr1:179886572 GRCh38: Chr1:179917437	TOR1AIP1		Autosomal recessive limb-girdle muscular dystrophy type 2Y	Likely benign (Dec 1, 2021)	criteria provided, single submitter
Select item 157738899.	NM_015602.4(TOR1AIP1):c.267G>A (p.Glu89=) GRCh37: Chr1:179851904 GRCh38: Chr1:179882769	LOC112577517, TOR1AIP1		Autosomal recessive limb-girdle muscular dystrophy type 2Y	Likely benign (Jun 27, 2022)	criteria provided, single submitter
Select item 1574827100.	NM_015602.4(TOR1AIP1):c.99C>T (p.Ala33=) GRCh37: Chr1:179851736 GRCh38: Chr1:179882601	LOC112577517, TOR1AIP1		Autosomal recessive limb-girdle muscular dystrophy type 2Y	Likely benign (Nov 3, 2022)	criteria provided, single submitter

<< First< Prev

Page of 4