26092[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155448	GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3	LOC129931453, LOC129931454 +1585 more	Copy number gain	See cases	GPathogenic
Select item 58111	GRCh38/hg38 1q23.3-25.2(chr1:164922655-180061589)x3	FAM163A, FAM20B +482 more	Copy number gain	See cases	GPathogenic
Select item 155621	GRCh38/hg38 1q24.2-31.1(chr1:170036068-187555148)x1	MYOC, MYOCOS +540 more	Copy number loss	See cases	GPathogenic
Select item 154301	GRCh38/hg38 1q24.3-31.2(chr1:170929720-191065409)x1	LOC129932082, LOC129932083 +561 more	Copy number loss	See cases	GPathogenic
Select item 145519	GRCh38/hg38 1q24.3-31.1(chr1:171039975-186875957)x3	ABL2, ACBD6 +513 more	Copy number gain	See cases	GPathogenic
Select item 57510	GRCh38/hg38 1q25.1-31.1(chr1:175035040-186042595)x1	ABL2, ACBD6 +347 more	Copy number loss	See cases	GPathogenic
Select item 144717	GRCh38/hg38 1q25.2-31.3(chr1:176595962-196301688)x1	MIR488, MR1 +456 more	Copy number loss	See cases	GPathogenic
Select item 60076	GRCh38/hg38 1q25.2-32.1(chr1:179032905-199724897)x1	LOC129932021, LOC129932022 +478 more	Copy number loss	See cases	GPathogenic
Select item 1190682	NC_000001.11:g.179881717T>C	TOR1AIP1	Single nucleotide variant	not provided	GLikely benign
Select item 1252731	NC_000001.11:g.179882017C>T	TOR1AIP1	Single nucleotide variant	not provided	GBenign
Select item 1221276	NC_000001.11:g.179882027del	TOR1AIP1	Deletion	not provided	GBenign
Select item 1297864	NC_000001.11:g.179882051C>G	TOR1AIP1	Single nucleotide variant	not provided	GBenign
Select item 1175598	NC_000001.11:g.179882173C>T	TOR1AIP1	Single nucleotide variant	not provided	GBenign
Select item 583920	NC_000001.11:g.(?_179882503)_(179904022_?)del	LOC112577517, LOC129932003 +1 more	Deletion	Autosomal recessive limb-girdle muscular dystrophy type 2Y	GPathogenic
Select item 1910970	NM_015602.4(TOR1AIP1):c.4G>A (p.Ala2Thr)	LOC112577517, TOR1AIP1 (A2T)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2Y	GUncertain significance
Select item 959057	NM_015602.4(TOR1AIP1):c.11_17del (p.Asp4fs)	LOC112577517, TOR1AIP1 (D4fs)	Deletion (frameshift variant)	Autosomal recessive limb-girdle muscular dystrophy type 2Y	GPathogenic
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 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 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 1942284	NM_015602.4(TOR1AIP1):c.15G>A (p.Gly5=)	LOC112577517, TOR1AIP1	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2Y	GLikely benign
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 863059	NM_015602.4(TOR1AIP1):c.20G>A (p.Arg7Gln)	LOC112577517, TOR1AIP1 (R7Q)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2Y	GUncertain significance
Select item 728012	NM_015602.4(TOR1AIP1):c.24A>G (p.Ala8=)	LOC112577517, TOR1AIP1	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2Y	GLikely benign
Select item 1480290	NM_015602.4(TOR1AIP1):c.25G>A (p.Glu9Lys)	LOC112577517, TOR1AIP1 (E9K)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2Y	GUncertain significance
Select item 743992	NM_015602.4(TOR1AIP1):c.27G>A (p.Glu9=)	LOC112577517, TOR1AIP1	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2Y	GLikely benign
Select item 970339	NM_015602.4(TOR1AIP1):c.29C>A (p.Ala10Glu)	TOR1AIP1, LOC112577517 (A10E)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2Y	GUncertain significance
Select item 737055	NM_015602.4(TOR1AIP1):c.30G>T (p.Ala10=)	LOC112577517, TOR1AIP1	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2Y	GLikely benign
Select item 1014751	NM_015602.4(TOR1AIP1):c.35G>A (p.Arg12Gln)	LOC112577517, TOR1AIP1 (R12Q)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2Y	GUncertain significance
Select item 476284	NM_015602.4(TOR1AIP1):c.37G>A (p.Glu13Lys)	LOC112577517, TOR1AIP1 (E13K)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2Y +2 more	GUncertain significance
Select item 1411837	NM_015602.4(TOR1AIP1):c.38A>T (p.Glu13Val)	LOC112577517, TOR1AIP1 (E13V)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2Y	GUncertain significance
Select item 936354	NM_015602.4(TOR1AIP1):c.43T>C (p.Trp15Arg)	LOC112577517, TOR1AIP1 (W15R)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2Y	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 1388867	NM_015602.4(TOR1AIP1):c.47G>T (p.Gly16Val)	LOC112577517, TOR1AIP1 (G16V)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2Y +1 more	GUncertain significance
Select item 1063183	NM_015602.4(TOR1AIP1):c.55G>A (p.Val19Ile)	LOC112577517, TOR1AIP1 (V19I)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2Y	GUncertain significance
Select item 1413275	NM_015602.4(TOR1AIP1):c.56T>A (p.Val19Asp)	LOC112577517, TOR1AIP1 (V19D)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2Y	GUncertain significance
Select item 3233244	NM_015602.4(TOR1AIP1):c.63dup (p.Arg22fs)	LOC112577517, TOR1AIP1 (R22fs)	Duplication (frameshift variant)	Centronuclear myopathy	GPathogenic
Select item 1505311	NM_015602.4(TOR1AIP1):c.62C>T (p.Pro21Leu)	LOC112577517, TOR1AIP1 (P21L)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2Y	GUncertain significance
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 719230	NM_015602.4(TOR1AIP1):c.63C>G (p.Pro21=)	LOC112577517, TOR1AIP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 841819	NM_015602.4(TOR1AIP1):c.64A>G (p.Arg22Gly)	TOR1AIP1, LOC112577517 (R22G)	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 1143610	NM_015602.4(TOR1AIP1):c.66G>A (p.Arg22=)	LOC112577517, TOR1AIP1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1713803	NM_015602.4(TOR1AIP1):c.68C>A (p.Ala23Asp)	LOC112577517, TOR1AIP1 (A23D)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2Y	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 476288	NM_015602.4(TOR1AIP1):c.70C>G (p.Pro24Ala)	LOC112577517, TOR1AIP1 (P24A)	Single nucleotide variant (missense variant)	TOR1AIP1-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 476289	NM_015602.4(TOR1AIP1):c.71C>G (p.Pro24Arg)	LOC112577517, TOR1AIP1 (P24R)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2Y	GUncertain significance
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 1347435	NM_015602.4(TOR1AIP1):c.79G>A (p.Glu27Lys)	LOC112577517, TOR1AIP1 (E27K)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2Y	GUncertain significance
Select item 971597	NM_015602.4(TOR1AIP1):c.80A>T (p.Glu27Val)	LOC112577517, TOR1AIP1 (E27V)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2Y	GUncertain significance
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 1972351	NM_015602.4(TOR1AIP1):c.81G>C (p.Glu27Asp)	LOC112577517, TOR1AIP1 (E27D)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2Y	GUncertain significance
Select item 1447531	NM_015602.4(TOR1AIP1):c.83G>A (p.Gly28Glu)	LOC112577517, TOR1AIP1 (G28E)	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 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 845146	NM_015602.4(TOR1AIP1):c.88G>C (p.Gly30Arg)	LOC112577517, TOR1AIP1 (G30R)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2Y	GUncertain significance
Select item 702443	NM_015602.4(TOR1AIP1):c.90C>A (p.Gly30=)	LOC112577517, TOR1AIP1	Single nucleotide variant (synonymous 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 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 1574827	NM_015602.4(TOR1AIP1):c.99C>T (p.Ala33=)	LOC112577517, TOR1AIP1	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2Y	GLikely benign
Select item 1466237	NM_015602.4(TOR1AIP1):c.101C>A (p.Pro34His)	LOC112577517, TOR1AIP1 (P34H)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2Y	GUncertain significance
Select item 959321	NM_015602.4(TOR1AIP1):c.112G>A (p.Gly38Ser)	LOC112577517, TOR1AIP1 (G38S)	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 1300450	NM_015602.4(TOR1AIP1):c.119G>C (p.Ser40Thr)	LOC112577517, TOR1AIP1 (S40T)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2Y +2 more	GUncertain significance
Select item 1416830	NM_015602.4(TOR1AIP1):c.121G>A (p.Asp41Asn)	LOC112577517, TOR1AIP1 (D41N)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2Y	GUncertain significance
Select item 1002203	NM_015602.4(TOR1AIP1):c.121G>T (p.Asp41Tyr)	LOC112577517, TOR1AIP1 (D41Y)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2Y	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 970075	NM_015602.4(TOR1AIP1):c.125C>T (p.Ala42Val)	LOC112577517, TOR1AIP1 (A42V)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2Y +1 more	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 2430695	NM_015602.4(TOR1AIP1):c.131C>T (p.Ala44Val)	LOC112577517, TOR1AIP1 (A44V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 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 1491171	NM_015602.4(TOR1AIP1):c.139A>C (p.Thr47Pro)	LOC112577517, TOR1AIP1 (T47P)	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 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 542851	NM_015602.4(TOR1AIP1):c.142C>T (p.Pro48Ser)	LOC112577517, TOR1AIP1 (P48S)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2Y	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 1969911	NM_015602.4(TOR1AIP1):c.147G>A (p.Pro49=)	LOC112577517, TOR1AIP1	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2Y	GLikely benign
Select item 1454229	NM_015602.4(TOR1AIP1):c.149C>A (p.Ser50Ter)	LOC112577517, TOR1AIP1 (S50*)	Single nucleotide variant (nonsense)	Autosomal recessive limb-girdle muscular dystrophy type 2Y	GPathogenic
Select item 542852	NM_015602.4(TOR1AIP1):c.155A>T (p.Gln52Leu)	LOC112577517, TOR1AIP1 (Q52L)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2Y +1 more	GConflicting classifications of pathogenicity
Select item 1472570	NM_015602.4(TOR1AIP1):c.156G>A (p.Gln52=)	LOC112577517, TOR1AIP1	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2Y	GLikely benign
Select item 1122912	NM_015602.4(TOR1AIP1):c.159C>G (p.Gly53=)	TOR1AIP1, LOC112577517	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2Y	GLikely benign
Select item 654486	NM_015602.4(TOR1AIP1):c.163C>G (p.Arg55Gly)	LOC112577517, TOR1AIP1 (R55G)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2Y	GUncertain significance
Select item 1014172	NM_015602.4(TOR1AIP1):c.164G>A (p.Arg55Gln)	LOC112577517, TOR1AIP1 (R55Q)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2Y	GUncertain significance
Select item 1002989	NM_015602.4(TOR1AIP1):c.173G>A (p.Arg58Lys)	LOC112577517, TOR1AIP1 (R58K)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2Y	GUncertain significance
Select item 542850	NM_015602.4(TOR1AIP1):c.177C>A (p.Phe59Leu)	LOC112577517, TOR1AIP1 (F59L)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2Y	GUncertain significance
Select item 1900054	NM_015602.4(TOR1AIP1):c.179C>G (p.Ser60Trp)	LOC112577517, TOR1AIP1 (S60W)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2Y	GUncertain significance
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 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 253059	NM_015602.4(TOR1AIP1):c.186del (p.Glu62fs)	LOC112577517, TOR1AIP1 +1 more (E62fs)	Deletion (frameshift variant)	Autosomal recessive limb-girdle muscular dystrophy type 2Y	GPathogenic
Select item 1356611	NM_015602.4(TOR1AIP1):c.189dup (p.Pro64fs)	TOR1AIP1, LOC112577517 (P64fs)	Duplication (frameshift variant)	Autosomal recessive limb-girdle muscular dystrophy type 2Y	GPathogenic
Select item 649251	NM_015602.4(TOR1AIP1):c.188C>T (p.Pro63Leu)	LOC112577517, TOR1AIP1 (P63L)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2Y	GUncertain significance
Select item 1546237	NM_015602.4(TOR1AIP1):c.192A>G (p.Pro64=)	LOC112577517, TOR1AIP1	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2Y	GLikely benign
Select item 1051654	NM_015602.4(TOR1AIP1):c.197T>A (p.Val66Glu)	LOC112577517, TOR1AIP1 (V66E)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2Y	GUncertain significance
Select item 1062260	NM_015602.4(TOR1AIP1):c.205G>T (p.Asp69Tyr)	LOC112577517, TOR1AIP1 (D69Y)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2Y	GUncertain significance
Select item 1379880	NM_015602.4(TOR1AIP1):c.230A>G (p.Glu77Gly)	LOC112577517, TOR1AIP1 (E77G)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2Y	GUncertain significance
Select item 3328110	NM_015602.4(TOR1AIP1):c.233G>C (p.Arg78Thr)	LOC112577517, TOR1AIP1 (R78T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1302076	NM_015602.4(TOR1AIP1):c.241G>A (p.Val81Met)	LOC112577517, TOR1AIP1 (V81M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 762662	NM_015602.4(TOR1AIP1):c.243G>C (p.Val81=)	LOC112577517, TOR1AIP1	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2Y	GLikely benign
Select item 476280	NM_015602.4(TOR1AIP1):c.246A>T (p.Gly82=)	TOR1AIP1, LOC112577517	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2Y	GLikely benign
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

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