ClinVar for Gene (Select 26092) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3247901	NC_000001.10:g.(?_179520308)_(183559464_?)del	ACBD6, AXDND1 +29 more	Deletion	not provided	GPathogenic
Select item 3181299	NM_015602.4(TOR1AIP1):c.79G>C (p.Glu27Gln)	LOC112577517, TOR1AIP1 (E27Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3181298	NM_015602.4(TOR1AIP1):c.683C>T (p.Ser228Phe)	TOR1AIP1 (S228F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3181297	NM_015602.4(TOR1AIP1):c.44G>C (p.Trp15Ser)	LOC112577517, TOR1AIP1 (W15S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3181295	NM_015602.4(TOR1AIP1):c.316C>T (p.Leu106Phe)	LOC112577517, TOR1AIP1 (L106F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3181294	NM_015602.4(TOR1AIP1):c.307G>A (p.Ala103Thr)	LOC112577517, TOR1AIP1 (A103T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3181293	NM_015602.4(TOR1AIP1):c.146C>T (p.Pro49Leu)	LOC112577517, TOR1AIP1 (P49L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3181292	NM_015602.4(TOR1AIP1):c.1093G>A (p.Val365Ile)	TOR1AIP1 (V365I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3063521	GRCh37/hg19 1q24.2-31.1(chr1:167994071-187711459)x1	ABL2, ACBD6 +123 more	Copy number loss	not specified	GPathogenic
Select item 3062777	GRCh37/hg19 1q25.1-25.3(chr1:173162501-182702252)x3	ABL2, ACBD6 +52 more	Copy number gain	not specified	GPathogenic
Select item 3056066	NM_015602.4(TOR1AIP1):c.740-9A>C	TOR1AIP1	Single nucleotide variant (intron variant)	TOR1AIP1-related disorder	GLikely benign
Select item 3048049	NM_015602.4(TOR1AIP1):c.1284A>C (p.Gln428His)	TOR1AIP1 (Q428H +1 more)	Single nucleotide variant (missense variant)	TOR1AIP1-related disorder	GUncertain significance
Select item 3044003	NM_015602.4(TOR1AIP1):c.69C>G (p.Ala23=)	LOC112577517, TOR1AIP1	Single nucleotide variant (synonymous variant)	TOR1AIP1-related disorder	GLikely benign
Select item 3027418	NM_015602.4(TOR1AIP1):c.1670T>A (p.Leu557Gln)	TOR1AIP1 (L557Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2639593	NM_015602.4(TOR1AIP1):c.84A>G (p.Gly28=)	LOC112577517, TOR1AIP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2636209	NM_015602.4(TOR1AIP1):c.610G>T (p.Glu204Ter)	TOR1AIP1 (E204* +1 more)	Single nucleotide variant (nonsense)	TOR1AIP1-related disorder	GLikely pathogenic
Select item 2619014	NM_015602.4(TOR1AIP1):c.955T>C (p.Ser319Pro)	TOR1AIP1 (S320P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2616867	NM_015602.4(TOR1AIP1):c.1225A>C (p.Ile409Leu)	TOR1AIP1 (I409L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2612167	NM_015602.4(TOR1AIP1):c.13G>T (p.Gly5Trp)	LOC112577517, TOR1AIP1 (G5W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2546957	NM_015602.4(TOR1AIP1):c.826C>T (p.Pro276Ser)	TOR1AIP1 (P276S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2536093	NM_015602.4(TOR1AIP1):c.1454C>A (p.Pro485His)	TOR1AIP1 (P485H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2529063	NM_015602.4(TOR1AIP1):c.16C>G (p.Arg6Gly)	LOC112577517, TOR1AIP1 (R6G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 2430695	NM_015602.4(TOR1AIP1):c.131C>T (p.Ala44Val)	LOC112577517, TOR1AIP1 (A44V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2428855	NM_015602.4(TOR1AIP1):c.1349C>T (p.Ala450Val)	TOR1AIP1 (A450V +1 more)	Single nucleotide variant (missense variant)	not provided	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 2345462	NM_015602.4(TOR1AIP1):c.1255G>A (p.Glu419Lys)	TOR1AIP1 (E419K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2307288	NM_015602.4(TOR1AIP1):c.469T>C (p.Ser157Pro)	LOC112577517, TOR1AIP1 (S157P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2284243	NM_015602.4(TOR1AIP1):c.358G>A (p.Glu120Lys)	LOC112577517, TOR1AIP1 (E120K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2280100	NM_015602.4(TOR1AIP1):c.1548A>C (p.Glu516Asp)	TOR1AIP1 (E516D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2263287	NM_015602.4(TOR1AIP1):c.123T>A (p.Asp41Glu)	LOC112577517, TOR1AIP1 (D41E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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

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