ClinVar for MedGen (Select 1385152) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3023484	NM_015602.4(TOR1AIP1):c.583C>T (p.Arg195Ter)	TOR1AIP1 (R196* +1 more)	Single nucleotide variant (nonsense)	Autosomal recessive limb-girdle muscular dystrophy type 2Y	GPathogenic
Select item 3019977	NM_015602.4(TOR1AIP1):c.908-5A>G	TOR1AIP1	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2Y	GLikely benign
Select item 3017399	NM_015602.4(TOR1AIP1):c.1323C>T (p.Ala441=)	TOR1AIP1	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2Y	GLikely benign
Select item 3015643	NM_015602.4(TOR1AIP1):c.141T>A (p.Thr47=)	LOC112577517, TOR1AIP1	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2Y	GLikely benign
Select item 2993709	NM_015602.4(TOR1AIP1):c.476-9_476-8del	TOR1AIP1	Deletion (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2Y	GLikely benign
Select item 2985332	NM_015602.4(TOR1AIP1):c.610+7G>T	TOR1AIP1	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2Y	GLikely benign
Select item 2981594	NM_015602.4(TOR1AIP1):c.739+9G>C	TOR1AIP1	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2Y	GLikely benign
Select item 2981146	NM_015602.4(TOR1AIP1):c.907+1G>A	TOR1AIP1	Single nucleotide variant (splice donor variant)	Autosomal recessive limb-girdle muscular dystrophy type 2Y	GLikely pathogenic
Select item 2979707	NM_015602.4(TOR1AIP1):c.611-16T>C	TOR1AIP1	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2Y	GLikely benign
Select item 2975695	NM_015602.4(TOR1AIP1):c.553+10G>C	TOR1AIP1	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2Y	GLikely benign
Select item 2966330	NM_015602.4(TOR1AIP1):c.531C>T (p.Val177=)	TOR1AIP1	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2Y	GLikely benign
Select item 2963031	NM_015602.4(TOR1AIP1):c.900G>A (p.Arg300=)	TOR1AIP1	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2Y	GLikely benign
Select item 2959601	NM_015602.4(TOR1AIP1):c.360G>A (p.Glu120=)	LOC112577517, TOR1AIP1	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2Y	GLikely benign
Select item 2957956	NM_015602.4(TOR1AIP1):c.653-4_653-3del	TOR1AIP1	Deletion (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2Y	GLikely benign
Select item 2902384	NM_015602.4(TOR1AIP1):c.611-20T>C	TOR1AIP1	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2Y	GLikely benign
Select item 2893692	NM_015602.4(TOR1AIP1):c.797-20A>C	TOR1AIP1	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2Y	GLikely benign
Select item 2882990	NM_015602.4(TOR1AIP1):c.399G>A (p.Gln133=)	LOC112577517, TOR1AIP1	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2Y	GLikely benign
Select item 2873036	NM_015602.4(TOR1AIP1):c.1677C>T (p.Gly559=)	TOR1AIP1	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2Y	GLikely benign
Select item 2859664	NM_015602.4(TOR1AIP1):c.426G>T (p.Pro142=)	LOC112577517, TOR1AIP1	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2Y	GLikely benign
Select item 2854353	NM_015602.4(TOR1AIP1):c.554-11T>G	TOR1AIP1	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2Y	GLikely benign
Select item 2848999	NM_015602.4(TOR1AIP1):c.63C>T (p.Pro21=)	LOC112577517, TOR1AIP1	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2Y	GLikely benign
Select item 2837993	NM_015602.4(TOR1AIP1):c.653-13T>A	TOR1AIP1	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2Y	GLikely benign
Select item 2837439	NM_015602.4(TOR1AIP1):c.273G>C (p.Arg91=)	LOC112577517, TOR1AIP1	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2Y	GLikely benign
Select item 2785351	NM_015602.4(TOR1AIP1):c.1173A>G (p.Gln391=)	TOR1AIP1	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2Y	GLikely benign
Select item 2779588	NM_015602.4(TOR1AIP1):c.750C>T (p.Thr250=)	TOR1AIP1	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2Y	GLikely benign
Select item 2759123	NM_015602.4(TOR1AIP1):c.570A>G (p.Val190=)	TOR1AIP1	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2Y	GLikely benign
Select item 2749607	NM_015602.4(TOR1AIP1):c.846A>T (p.Gly282=)	TOR1AIP1	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2Y	GLikely benign
Select item 2731720	NM_015602.4(TOR1AIP1):c.894G>A (p.Arg298=)	TOR1AIP1	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2Y	GLikely benign
Select item 2728405	NM_015602.4(TOR1AIP1):c.87G>A (p.Arg29=)	TOR1AIP1, LOC112577517	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2Y	GLikely benign
Select item 2728392	NM_015602.4(TOR1AIP1):c.183C>T (p.Asp61=)	LOC112577517, TOR1AIP1	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2Y	GLikely benign
Select item 2717913	NM_015602.4(TOR1AIP1):c.780T>C (p.Phe260=)	TOR1AIP1	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2Y	GLikely benign
Select item 2694593	NM_015602.4(TOR1AIP1):c.1743C>A (p.Ile581=)	TOR1AIP1	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2Y	GLikely benign
Select item 2693888	NM_015602.4(TOR1AIP1):c.554-10A>G	TOR1AIP1	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2Y	GLikely benign
Select item 2690252	NM_015602.4(TOR1AIP1):c.351G>C (p.Gln117His)	LOC112577517, TOR1AIP1 (Q117H)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2Y	GUncertain significance
Select item 2437185	NM_015602.4(TOR1AIP1):c.1199G>A (p.Ser400Asn)	TOR1AIP1 (S400N +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2Y	GUncertain significance
Select item 2437184	NM_015602.4(TOR1AIP1):c.1419G>T (p.Gln473His)	TOR1AIP1 (Q473H +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2Y	GUncertain significance
Select item 2437183	NM_015602.4(TOR1AIP1):c.507C>A (p.Ser169Arg)	TOR1AIP1 (S169R)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2Y	GUncertain significance
Select item 2437182	NM_015602.4(TOR1AIP1):c.666A>T (p.Glu222Asp)	TOR1AIP1 (E222D +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2Y	GUncertain significance
Select item 2437181	NM_015602.4(TOR1AIP1):c.1133dup (p.Tyr379fs)	TOR1AIP1 (Y379fs +1 more)	Duplication (frameshift variant)	Autosomal recessive limb-girdle muscular dystrophy type 2Y	GUncertain significance
Select item 2437180	NM_015602.4(TOR1AIP1):c.11A>G (p.Asp4Gly)	LOC112577517, TOR1AIP1 (D4G)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2Y	GUncertain significance
Select item 2437179	NM_015602.4(TOR1AIP1):c.326G>A (p.Arg109Lys)	TOR1AIP1, LOC112577517 (R109K)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2Y	GUncertain significance
Select item 2437178	NM_015602.4(TOR1AIP1):c.65G>A (p.Arg22Lys)	LOC112577517, TOR1AIP1 (R22K)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2Y	GUncertain significance
Select item 2421330	NM_015602.4(TOR1AIP1):c.249A>C (p.Lys83Asn)	LOC112577517, TOR1AIP1 (K83N)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2Y	GUncertain significance
Select item 2418097	NM_015602.4(TOR1AIP1):c.838+11G>A	TOR1AIP1	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2Y	GLikely benign
Select item 2416582	NM_015602.4(TOR1AIP1):c.485C>T (p.Ala162Val)	TOR1AIP1 (A162V)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2Y	GUncertain significance
Select item 2415627	NM_015602.4(TOR1AIP1):c.1052G>C (p.Ser351Thr)	TOR1AIP1 (S351T +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2Y	GUncertain significance
Select item 2192978	NM_015602.4(TOR1AIP1):c.476-20_476-19del	TOR1AIP1	Deletion (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2Y	GLikely benign
Select item 2192151	NM_015602.4(TOR1AIP1):c.93G>A (p.Arg31=)	LOC112577517, TOR1AIP1	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2Y	GLikely benign
Select item 2183021	NM_015602.4(TOR1AIP1):c.476-20T>G	TOR1AIP1	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2Y	GLikely benign
Select item 2183009	NM_015602.4(TOR1AIP1):c.360G>T (p.Glu120Asp)	LOC112577517, TOR1AIP1 (E120D)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2Y	GUncertain significance
Select item 2174524	NM_015602.4(TOR1AIP1):c.140C>T (p.Thr47Ile)	LOC112577517, TOR1AIP1 (T47I)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2Y	GUncertain significance
Select item 2170387	NM_015602.4(TOR1AIP1):c.751A>G (p.Arg251Gly)	TOR1AIP1 (R251G +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2Y	GUncertain significance
Select item 2166040	NM_015602.4(TOR1AIP1):c.1062C>T (p.Phe354=)	TOR1AIP1	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2Y	GLikely benign
Select item 2165940	NM_015602.4(TOR1AIP1):c.134A>C (p.Tyr45Ser)	LOC112577517, TOR1AIP1 (Y45S)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2Y	GUncertain significance
Select item 2165736	NM_015602.4(TOR1AIP1):c.540A>C (p.Ile180=)	TOR1AIP1	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2Y	GLikely benign
Select item 2165028	NM_015602.4(TOR1AIP1):c.137G>A (p.Arg46Lys)	LOC112577517, TOR1AIP1 (R46K)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2Y	GUncertain significance
Select item 2162597	NM_015602.4(TOR1AIP1):c.408G>A (p.Glu136=)	LOC112577517, TOR1AIP1	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2Y	GLikely benign
Select item 2161998	NM_015602.4(TOR1AIP1):c.93G>C (p.Arg31=)	LOC112577517, TOR1AIP1	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2Y	GLikely benign
Select item 2161458	NM_015602.4(TOR1AIP1):c.553+14A>G	TOR1AIP1	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2Y	GLikely benign
Select item 2159811	NM_015602.4(TOR1AIP1):c.81G>A (p.Glu27=)	LOC112577517, TOR1AIP1	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2Y	GLikely benign
Select item 2157712	NM_015602.4(TOR1AIP1):c.1037C>A (p.Ala346Asp)	TOR1AIP1 (A346D +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2Y +1 more	GUncertain significance
Select item 2155447	NM_015602.4(TOR1AIP1):c.1244C>T (p.Ala415Val)	TOR1AIP1 (A416V +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2Y	GUncertain significance
Select item 2154114	NM_015602.4(TOR1AIP1):c.1248A>C (p.Arg416=)	TOR1AIP1	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2Y	GLikely benign
Select item 2151546	NM_015602.4(TOR1AIP1):c.839-16T>C	TOR1AIP1	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2Y	GLikely benign
Select item 2150478	NM_015602.4(TOR1AIP1):c.652+18A>G	TOR1AIP1	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2Y	GUncertain significance
Select item 2150167	NM_015602.4(TOR1AIP1):c.290A>G (p.Glu97Gly)	LOC112577517, TOR1AIP1 (E97G)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2Y	GUncertain significance
Select item 2149321	NM_015602.4(TOR1AIP1):c.271C>T (p.Arg91Trp)	LOC112577517, TOR1AIP1 (R91W)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2Y	GUncertain significance
Select item 2148041	NM_015602.4(TOR1AIP1):c.184G>A (p.Glu62Lys)	LOC112577517, TOR1AIP1 (E62K)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2Y	GUncertain significance
Select item 2146305	NM_015602.4(TOR1AIP1):c.1211G>A (p.Arg404Gln)	TOR1AIP1 (R404Q +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2Y	GUncertain significance
Select item 2132625	NM_015602.4(TOR1AIP1):c.1721_1722insT (p.Glu574fs)	TOR1AIP1 (E574fs +1 more)	Insertion (frameshift variant)	Autosomal recessive limb-girdle muscular dystrophy type 2Y	GUncertain significance
Select item 2122885	NM_015602.4(TOR1AIP1):c.1197T>C (p.Asn399=)	TOR1AIP1	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2Y	GLikely benign
Select item 2109201	NM_015602.4(TOR1AIP1):c.1078G>A (p.Val360Ile)	TOR1AIP1 (V360I +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2Y	GUncertain significance
Select item 2107618	NM_015602.4(TOR1AIP1):c.304A>G (p.Ser102Gly)	LOC112577517, TOR1AIP1 (S102G)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2Y	GUncertain significance
Select item 2102042	NM_015602.4(TOR1AIP1):c.1344T>G (p.Asp448Glu)	TOR1AIP1 (D449E +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2Y	GUncertain significance
Select item 2083769	NM_015602.4(TOR1AIP1):c.838+2T>A	TOR1AIP1	Single nucleotide variant (splice donor variant)	Autosomal recessive limb-girdle muscular dystrophy type 2Y	GLikely pathogenic
Select item 2081791	NM_015602.4(TOR1AIP1):c.1088C>G (p.Thr363Ser)	TOR1AIP1 (T364S +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2Y	GUncertain significance
Select item 2079582	NM_015602.4(TOR1AIP1):c.964C>T (p.Gln322Ter)	TOR1AIP1 (Q322* +1 more)	Single nucleotide variant (nonsense)	Autosomal recessive limb-girdle muscular dystrophy type 2Y	GUncertain significance
Select item 2078896	NM_015602.4(TOR1AIP1):c.126G>A (p.Ala42=)	LOC112577517, TOR1AIP1	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2Y	GLikely benign
Select item 2059927	NM_015602.4(TOR1AIP1):c.1334A>T (p.Asp445Val)	TOR1AIP1 (D445V +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2Y	GUncertain significance
Select item 2057303	NM_015602.4(TOR1AIP1):c.7G>A (p.Gly3Ser)	LOC112577517, TOR1AIP1 (G3S)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2Y	GUncertain significance
Select item 2048370	NM_015602.4(TOR1AIP1):c.653G>C (p.Gly218Ala)	TOR1AIP1 (G218A +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2Y	GUncertain significance
Select item 2043225	NM_015602.4(TOR1AIP1):c.584G>A (p.Arg195Gln)	TOR1AIP1 (R195Q +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2Y	GUncertain significance
Select item 2040659	NM_015602.4(TOR1AIP1):c.964+1G>C	TOR1AIP1	Single nucleotide variant (splice donor variant)	Autosomal recessive limb-girdle muscular dystrophy type 2Y	GUncertain significance
Select item 2031590	NM_015602.4(TOR1AIP1):c.476-3dup	TOR1AIP1	Duplication (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2Y	GBenign
Select item 2027492	NM_015602.4(TOR1AIP1):c.259C>T (p.Leu87=)	LOC112577517, TOR1AIP1	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2Y	GLikely benign
Select item 2021176	NM_015602.4(TOR1AIP1):c.1279del (p.Glu427fs)	TOR1AIP1 (E428fs +1 more)	Deletion (frameshift variant)	Autosomal recessive limb-girdle muscular dystrophy type 2Y	GUncertain significance
Select item 2020812	NM_015602.4(TOR1AIP1):c.261A>G (p.Leu87=)	LOC112577517, TOR1AIP1	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2Y	GLikely benign
Select item 2010695	NM_015602.4(TOR1AIP1):c.527C>G (p.Thr176Ser)	TOR1AIP1 (T176S)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2Y	GUncertain significance
Select item 2006752	NM_015602.4(TOR1AIP1):c.267G>C (p.Glu89Asp)	LOC112577517, TOR1AIP1 (E89D)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2Y	GUncertain significance
Select item 1996022	NM_015602.4(TOR1AIP1):c.114C>T (p.Gly38=)	LOC112577517, TOR1AIP1	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2Y	GLikely benign
Select item 1994127	NM_015602.4(TOR1AIP1):c.895A>G (p.Thr299Ala)	TOR1AIP1 (T299A +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2Y	GUncertain significance
Select item 1989858	NM_015602.4(TOR1AIP1):c.633G>A (p.Lys211=)	TOR1AIP1	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2Y	GLikely benign
Select item 1988544	NM_015602.4(TOR1AIP1):c.1065T>C (p.Phe355=)	TOR1AIP1	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2Y	GLikely benign
Select item 1985858	NM_015602.4(TOR1AIP1):c.554-12del	TOR1AIP1	Deletion (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2Y	GLikely benign
Select item 1985605	NM_015602.4(TOR1AIP1):c.653-6C>A	TOR1AIP1	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2Y	GLikely benign
Select item 1983241	NM_015602.4(TOR1AIP1):c.339G>T (p.Gln113His)	LOC112577517, TOR1AIP1 (Q113H)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2Y	GUncertain significance
Select item 1981901	NM_015602.4(TOR1AIP1):c.416C>G (p.Pro139Arg)	LOC112577517, TOR1AIP1 (P139R)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2Y	GUncertain significance
Select item 1976018	NM_015602.4(TOR1AIP1):c.411G>A (p.Gln137=)	LOC112577517, TOR1AIP1	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2Y	GLikely benign
Select item 1975496	NM_015602.4(TOR1AIP1):c.770T>C (p.Ile257Thr)	TOR1AIP1 (I258T +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2Y	GUncertain significance
Select item 1975298	NM_015602.4(TOR1AIP1):c.701C>T (p.Thr234Ile)	TOR1AIP1 (T235I +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2Y	GUncertain significance

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