ClinVar for Gene (Select 114815) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3321474	NM_052918.5(SORCS1):c.122C>T (p.Pro41Leu)	SORCS1 (P41L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321473	NM_052918.5(SORCS1):c.2546G>C (p.Ser849Thr)	SORCS1 (S849T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321472	NM_052918.5(SORCS1):c.115C>T (p.Pro39Ser)	SORCS1 (P39S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321471	NM_052918.5(SORCS1):c.2911G>A (p.Ala971Thr)	SORCS1 (A971T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321470	NM_052918.5(SORCS1):c.2815G>A (p.Gly939Arg)	SORCS1 (G939R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321468	NM_052918.5(SORCS1):c.2636G>A (p.Ser879Asn)	SORCS1 (S879N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321467	NM_052918.5(SORCS1):c.3139A>C (p.Lys1047Gln)	SORCS1 (K1047Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321466	NM_052918.5(SORCS1):c.1006G>T (p.Ala336Ser)	SORCS1 (A336S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167547	NM_052918.5(SORCS1):c.487A>G (p.Thr163Ala)	SORCS1 (T163A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167546	NM_052918.5(SORCS1):c.465G>A (p.Met155Ile)	SORCS1 (M155I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167545	NM_052918.5(SORCS1):c.3364T>C (p.Phe1122Leu)	SORCS1 (F1122L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167544	NM_052918.5(SORCS1):c.3188C>T (p.Thr1063Met)	SORCS1 (T1063M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167543	NM_052918.5(SORCS1):c.3185A>G (p.His1062Arg)	SORCS1 (H1062R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167542	NM_052918.5(SORCS1):c.3161A>C (p.Glu1054Ala)	SORCS1 (E1054A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167541	NM_052918.5(SORCS1):c.2823A>G (p.Ile941Met)	SORCS1 (I941M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167540	NM_052918.5(SORCS1):c.2526G>A (p.Ala842=)	SORCS1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3167539	NM_052918.5(SORCS1):c.2392C>T (p.Arg798Trp)	SORCS1 (R798W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167538	NM_052918.5(SORCS1):c.1823G>A (p.Arg608Gln)	SORCS1 (R608Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167537	NM_052918.5(SORCS1):c.161G>T (p.Arg54Met)	SORCS1 (R54M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167536	NM_052918.5(SORCS1):c.1550A>G (p.His517Arg)	SORCS1 (H517R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167535	NM_052918.5(SORCS1):c.1144C>T (p.Leu382=)	SORCS1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3063164	GRCh37/hg19 10q23.33-26.3(chr10:95078198-135427143)x3	ABCC2, ABLIM1 +293 more	Copy number gain	not specified	GPathogenic
Select item 3063162	GRCh37/hg19 10q25.1-26.13(chr10:107129993-123817654)x3	ABLIM1, ACSL5 +70 more	Copy number gain	not specified	GLikely pathogenic
Select item 2640821	NM_052918.5(SORCS1):c.3352G>A (p.Val1118Ile)	SORCS1 (V1118I)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2623825	NM_052918.5(SORCS1):c.2444A>G (p.His815Arg)	SORCS1 (H815R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2623667	NM_052918.5(SORCS1):c.712A>G (p.Thr238Ala)	SORCS1 (T238A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616084	NM_052918.5(SORCS1):c.1301A>G (p.Asp434Gly)	SORCS1 (D434G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614739	NM_052918.5(SORCS1):c.422G>T (p.Gly141Val)	SORCS1 (G141V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2612510	NM_052918.5(SORCS1):c.2734G>A (p.Val912Met)	SORCS1 (V912M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611782	NM_052918.5(SORCS1):c.557G>C (p.Ser186Thr)	SORCS1 (S186T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596926	NM_052918.5(SORCS1):c.1505G>A (p.Arg502His)	SORCS1 (R502H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596298	NM_052918.5(SORCS1):c.2489G>A (p.Arg830Gln)	SORCS1 (R830Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2574696	GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143)	AGAP5, CRTAC1 +682 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574686	GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143)	ABRAXAS2, CHCHD1 +673 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 2553113	NM_052918.5(SORCS1):c.29C>A (p.Ser10Tyr)	SORCS1 (S10Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551884	NM_052918.5(SORCS1):c.2341G>A (p.Val781Ile)	SORCS1 (V781I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548936	NM_052918.5(SORCS1):c.1798A>G (p.Met600Val)	SORCS1 (M600V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545497	NM_052918.5(SORCS1):c.1807A>G (p.Thr603Ala)	SORCS1 (T603A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518488	NM_052918.5(SORCS1):c.2122A>G (p.Met708Val)	SORCS1 (M708V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492712	NM_052918.5(SORCS1):c.683C>A (p.Thr228Asn)	SORCS1 (T228N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472458	NM_052918.5(SORCS1):c.35C>T (p.Ala12Val)	SORCS1 (A12V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465674	NM_052918.5(SORCS1):c.2014C>T (p.Arg672Trp)	SORCS1 (R672W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409076	NM_052918.5(SORCS1):c.1351G>A (p.Ala451Thr)	SORCS1 (A451T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406947	NM_052918.5(SORCS1):c.1102C>G (p.Pro368Ala)	SORCS1 (P368A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406017	NM_052918.5(SORCS1):c.2572G>A (p.Val858Ile)	SORCS1 (V858I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395475	NM_052918.5(SORCS1):c.301G>T (p.Val101Phe)	SORCS1 (V101F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363502	NM_052918.5(SORCS1):c.1121A>G (p.Gln374Arg)	SORCS1 (Q374R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352738	NM_052918.5(SORCS1):c.548A>G (p.His183Arg)	SORCS1 (H183R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350923	NM_052918.5(SORCS1):c.3067G>A (p.Ala1023Thr)	SORCS1 (A1023T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341489	NM_052918.5(SORCS1):c.2597G>A (p.Arg866His)	SORCS1 (R866H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336481	NM_052918.5(SORCS1):c.203C>T (p.Thr68Met)	SORCS1 (T68M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333855	NM_052918.5(SORCS1):c.1056C>G (p.Asn352Lys)	SORCS1 (N352K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333379	NM_052918.5(SORCS1):c.1126C>T (p.His376Tyr)	SORCS1 (H376Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331769	NM_052918.5(SORCS1):c.990C>A (p.Asp330Glu)	SORCS1 (D330E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329834	NM_052918.5(SORCS1):c.1526C>A (p.Thr509Lys)	SORCS1 (T509K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325406	NM_052918.5(SORCS1):c.1379G>T (p.Gly460Val)	SORCS1 (G460V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309379	NM_052918.5(SORCS1):c.1319T>C (p.Ile440Thr)	SORCS1 (I440T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305528	NM_052918.5(SORCS1):c.2455C>G (p.Leu819Val)	SORCS1 (L819V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293618	NM_052918.5(SORCS1):c.1862G>A (p.Ser621Asn)	SORCS1 (S621N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290247	NM_052918.5(SORCS1):c.1159C>G (p.Arg387Gly)	SORCS1 (R387G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284558	NM_052918.5(SORCS1):c.3110T>C (p.Leu1037Pro)	SORCS1 (L1037P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272444	NM_052918.5(SORCS1):c.1193C>A (p.Ala398Glu)	SORCS1 (A398E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257343	NM_052918.5(SORCS1):c.2836A>G (p.Thr946Ala)	SORCS1 (T946A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251085	NM_052918.5(SORCS1):c.3119A>G (p.Gln1040Arg)	SORCS1 (Q1040R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240607	NM_052918.5(SORCS1):c.506G>C (p.Gly169Ala)	SORCS1 (G169A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236635	NM_052918.5(SORCS1):c.2305T>C (p.Tyr769His)	SORCS1 (Y769H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226999	NM_052918.5(SORCS1):c.749A>C (p.Glu250Ala)	SORCS1 (E250A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223433	NM_052918.5(SORCS1):c.82G>T (p.Ala28Ser)	SORCS1 (A28S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217507	NM_052918.5(SORCS1):c.178G>A (p.Gly60Arg)	SORCS1 (G60R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1807968	GRCh37/hg19 10q25.1(chr10:108528839-108639896)x1	SORCS1	Copy number loss	not provided	GUncertain significance
Select item 1691317	NM_052918.5(SORCS1):c.3371+167C>T	SORCS1 (Q1141*)	Single nucleotide variant (nonsense +2 more)	Alzheimer disease 6	GLikely pathogenic
Select item 1527605	GRCh37/hg19 10q25.1-26.3(chr10:108455687-135427143)	ABLIM1, ABRAXAS2 +146 more	Copy number gain	not specified	GPathogenic
Select item 1527604	GRCh37/hg19 10q25.1(chr10:108322984-108382229)	SORCS1	Copy number loss	not specified	GUncertain significance
Select item 1527602	GRCh37/hg19 10q25.1(chr10:108039346-109787835)	SORCS1	Copy number gain	not specified	GUncertain significance
Select item 1527599	GRCh37/hg19 10q24.32-25.3(chr10:104030479-115410590)	C10orf95, CALHM1 +57 more	Copy number loss	not specified	GPathogenic
Select item 1340153	GRCh37/hg19 10q25.1-25.3(chr10:107092654-117852548)x1	ABLIM1, ACSL5 +32 more	Copy number loss	not provided	GUncertain significance
Select item 815378	GRCh37/hg19 10q25.1(chr10:108254463-110095168)x1	SORCS1	Copy number loss	not provided	GUncertain significance
Select item 815377	GRCh37/hg19 10q25.1(chr10:107728409-109787853)x3	SORCS1	Copy number gain	not provided	GUncertain significance
Select item 788362	NM_052918.5(SORCS1):c.2643C>T (p.Val881=)	SORCS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 784167	NM_052918.5(SORCS1):c.1526C>T (p.Thr509Met)	SORCS1 (T509M)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 773008	NM_052918.5(SORCS1):c.1554C>T (p.Cys518=)	SORCS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 770209	NM_052918.5(SORCS1):c.984A>G (p.Glu328=)	SORCS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 743104	NM_052918.5(SORCS1):c.1383T>C (p.Pro461=)	SORCS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 733816	NM_052918.5(SORCS1):c.805C>A (p.Arg269=)	SORCS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 717167	NM_052918.5(SORCS1):c.960-4T>C	SORCS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 717166	NM_052918.5(SORCS1):c.1230C>T (p.Pro410=)	SORCS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 716310	NM_052918.5(SORCS1):c.2366C>A (p.Pro789Gln)	SORCS1 (P789Q)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 709832	NM_052918.5(SORCS1):c.2397G>A (p.Gly799=)	SORCS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 687138	GRCh37/hg19 10q25.1(chr10:107954392-110701910)x3	SORCS1	Copy number gain	not provided	GUncertain significance
Select item 685240	GRCh37/hg19 10q25.1(chr10:107954392-110701910)x3	SORCS1	Copy number gain	not provided	GUncertain significance
Select item 563802	GRCh37/hg19 10q23.33-26.3(chr10:94346520-135427143)x3	ABCC2, ABLIM1 +298 more	Copy number gain	not provided	GPathogenic
Select item 563801	GRCh37/hg19 10q24.33-26.3(chr10:105613040-135427143)x3	ABLIM1, ABRAXAS2 +157 more	Copy number gain	not provided	GPathogenic
Select item 563784	GRCh37/hg19 10q25.1(chr10:108777825-111742179)x1	SORCS1, XPNPEP1	Copy number loss	not provided	GUncertain significance
Select item 563783	GRCh37/hg19 10q25.1(chr10:108496654-111204450)x3	SORCS1	Copy number gain	not provided	GUncertain significance
Select item 523165	GRCh37/hg19 10q11.21-26.3(chr10:42347406-135534747)x1	COX15, CPEB3 +569 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 443838	GRCh37/hg19 10q25.1-26.3(chr10:106003533-135427143)x3	ABLIM1, ABRAXAS2 +151 more	Copy number gain	See cases	GPathogenic
Select item 443323	GRCh37/hg19 10q23.32-26.3(chr10:93283493-135427143)x3	ABCC2, ABLIM1 +305 more	Copy number gain	See cases	GPathogenic
Select item 443159	GRCh37/hg19 10q25.1(chr10:108504697-108710802)x1	SORCS1	Copy number loss	See cases	GLikely benign
Select item 442105	GRCh37/hg19 10q25.1(chr10:107734902-109787853)x3	SORCS1	Copy number gain	See cases	GUncertain significance
Select item 441987	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)	INA, INPP5A +721 more	Copy number gain	See cases	GPathogenic

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