ClinVar for Gene (Select 10580) - ClinVar - NCBI

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

Links from Gene

Items: 1 to 100 of 142

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3321440	NM_001034954.3(SORBS1):c.568C>A (p.Pro190Thr)	SORBS1 (P158T +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3321439	NM_001034954.3(SORBS1):c.1560T>A (p.Asp520Glu)	SORBS1 (D387E +24 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321438	NM_001034954.3(SORBS1):c.611T>A (p.Phe204Tyr)	SORBS1 (F163Y +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3321437	NM_001034954.3(SORBS1):c.211G>A (p.Val71Met)	SORBS1 (V71M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321436	NM_001034954.3(SORBS1):c.541A>G (p.Thr181Ala)	SORBS1 (T140A +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3321434	NM_001034954.3(SORBS1):c.1655G>C (p.Ser552Thr)	SORBS1 (S342T +21 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3321433	NM_001034954.3(SORBS1):c.2858G>A (p.Ser953Asn)	SORBS1 (S721N +37 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321432	NM_001034954.3(SORBS1):c.710C>T (p.Thr237Met)	SORBS1 (T168M +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3321431	NM_001034954.3(SORBS1):c.1069A>G (p.Lys357Glu)	SORBS1 (K357E +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167494	NM_001034954.3(SORBS1):c.97G>T (p.Ala33Ser)	SORBS1 (A33S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3167493	NM_001034954.3(SORBS1):c.95G>A (p.Arg32His)	SORBS1 (R32H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3167492	NM_001034954.3(SORBS1):c.958C>G (p.Gln320Glu)	SORBS1 (Q251E +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167491	NM_001034954.3(SORBS1):c.94C>T (p.Arg32Cys)	SORBS1 (R32C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3167490	NM_001034954.3(SORBS1):c.614C>T (p.Pro205Leu)	SORBS1 (P205L +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3167489	NM_001034954.3(SORBS1):c.586G>C (p.Ala196Pro)	SORBS1 (A155P +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3167488	NM_001034954.3(SORBS1):c.499G>C (p.Val167Leu)	SORBS1 (V167L +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3167487	NM_001034954.3(SORBS1):c.3620C>T (p.Ala1207Val)	SORBS1 (A1490V +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3167486	NM_001034954.3(SORBS1):c.3584G>A (p.Arg1195Gln)	SORBS1 (R1174Q +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3167485	NM_001034954.3(SORBS1):c.3550G>A (p.Ala1184Thr)	SORBS1 (A1454T +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3167484	NM_001034954.3(SORBS1):c.3356C>T (p.Pro1119Leu)	SORBS1 (P978L +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3167483	NM_001034954.3(SORBS1):c.3231C>G (p.Asp1077Glu)	SORBS1 (D1056E +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3167482	NM_001034954.3(SORBS1):c.3127C>T (p.Arg1043Cys)	SORBS1 (R997C +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3167481	NM_001034954.3(SORBS1):c.2995C>T (p.Arg999Cys)	SORBS1 (R1269C +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3167480	NM_001034954.3(SORBS1):c.2914C>G (p.His972Asp)	SORBS1 (H1264D +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3167479	NM_001034954.3(SORBS1):c.2834C>G (p.Ser945Cys)	SORBS1 (S660C +37 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167478	NM_001034954.3(SORBS1):c.2767G>A (p.Val923Met)	SORBS1 (V1215M +37 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167476	NM_001034954.3(SORBS1):c.2682C>G (p.Ile894Met)	SORBS1 (I1186M +37 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167475	NM_001034954.3(SORBS1):c.2530C>T (p.Arg844Cys)	SORBS1 (R550C +37 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167474	NM_001034954.3(SORBS1):c.2296C>G (p.Pro766Ala)	SORBS1 (P1049A +32 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3167473	NM_001034954.3(SORBS1):c.2290G>A (p.Val764Ile)	SORBS1 (V470I +32 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3167472	NM_001034954.3(SORBS1):c.1871C>T (p.Thr624Met)	SORBS1 (T423M +9 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3167471	NM_001034954.3(SORBS1):c.1715C>T (p.Ser572Leu)	SORBS1 (S396L +21 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3167470	NM_001034954.3(SORBS1):c.1598A>G (p.Lys533Arg)	SORBS1 (K375R +24 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167469	NM_001034954.3(SORBS1):c.1529G>C (p.Ser510Thr)	SORBS1 (S368T +24 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167468	NM_001034954.3(SORBS1):c.1505C>T (p.Ala502Val)	SORBS1 (A344V +24 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167467	NM_001034954.3(SORBS1):c.1484C>T (p.Ser495Leu)	SORBS1 (S337L +24 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167466	NM_001034954.3(SORBS1):c.1438A>G (p.Lys480Glu)	SORBS1 (K327E +24 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167465	NM_001034954.3(SORBS1):c.127C>T (p.Pro43Ser)	SORBS1 (P43S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3167464	NM_001034954.3(SORBS1):c.1156C>T (p.Arg386Trp)	SORBS1 (R231W +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3063183	GRCh37/hg19 10q23.33-24.2(chr10:94283369-101820913)x1	ABCC2, ACSM6 +74 more	Copy number loss	not specified	GPathogenic
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 3063150	GRCh37/hg19 10q23.33-24.1(chr10:96180463-97226361)x3	ACSM6, CYP2C18 +7 more	Copy number gain	not specified	GUncertain significance
Select item 3063132	GRCh37/hg19 10q23.31-24.2(chr10:90796994-100067505)x1	ACSM6, ALDH18A1 +83 more	Copy number loss	not specified	GPathogenic
Select item 2684614	GRCh37/hg19 10q23.33-24.1(chr10:96298410-97426086)x3	ACSM6, ALDH18A1 +8 more	Copy number gain	not provided	GUncertain significance
Select item 2684602	GRCh37/hg19 10q11.21-24.2(chr10:42709645-100834951)x3	RRP12, RTKN2 +332 more	Copy number gain	not provided	GPathogenic
Select item 2672408	NM_001034954.3(SORBS1):c.745C>A (p.Pro249Thr)	SORBS1 (P180T +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2614499	NM_001034954.3(SORBS1):c.1321T>C (p.Tyr441His)	SORBS1 (Y309H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2614498	NM_001034954.3(SORBS1):c.1268A>T (p.Glu423Val)	SORBS1 (E268V +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2609959	NM_001034954.3(SORBS1):c.1661A>T (p.Asp554Val)	SORBS1 (D385V +21 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2606897	NM_001034954.3(SORBS1):c.3419C>A (p.Pro1140His)	SORBS1 (P1094H +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2604259	NM_001034954.3(SORBS1):c.70G>A (p.Asp24Asn)	SORBS1 (D24N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593789	NM_001034954.3(SORBS1):c.3583C>T (p.Arg1195Trp)	SORBS1 (R1195W +6 more)	Single nucleotide variant (missense variant +1 more)	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 2558280	NM_001034954.3(SORBS1):c.1988G>A (p.Arg663Lys)	SORBS1 (R410K +33 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556896	NM_001034954.3(SORBS1):c.977G>A (p.Ser326Asn)	SORBS1 (S162N +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549178	NM_001034954.3(SORBS1):c.2225C>T (p.Ala742Val)	SORBS1 (A519V +32 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2548935	NM_001034954.3(SORBS1):c.976A>G (p.Ser326Gly)	SORBS1 (S194G +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538570	NM_001034954.3(SORBS1):c.3007C>G (p.Leu1003Val)	SORBS1 (L1295V +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2524537	NM_001034954.3(SORBS1):c.1294G>A (p.Glu432Lys)	SORBS1 (E309K +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2521257	NM_001034954.3(SORBS1):c.791C>T (p.Thr264Met)	SORBS1 (T232M +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2521255	NM_001034954.3(SORBS1):c.2716G>A (p.Glu906Lys)	SORBS1 (E797K +37 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514355	NM_001034954.3(SORBS1):c.3307G>A (p.Val1103Ile)	SORBS1 (V1103I +5 more)	Single nucleotide variant (intron variant +1 more)	not specified	GUncertain significance
Select item 2512131	NM_001034954.3(SORBS1):c.3409G>A (p.Glu1137Lys)	SORBS1 (E1137K +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2509078	NM_001034954.3(SORBS1):c.1780A>G (p.Ile594Val)	SORBS1 (I564V +9 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2469185	NM_001034954.3(SORBS1):c.776C>T (p.Ser259Leu)	SORBS1 (S250L +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2461950	NM_001034954.3(SORBS1):c.2921G>A (p.Arg974His)	SORBS1 (R974H +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2456600	NM_001034954.3(SORBS1):c.419A>G (p.Asn140Ser)	SORBS1 (N108S +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2446762	GRCh37/hg19 10q23.32-24.1(chr10:93281410-97596360)x1	ACSM6, ALDH18A1 +33 more	Copy number loss	See cases	GPathogenic
Select item 2411730	NM_001034954.3(SORBS1):c.3763G>A (p.Gly1255Arg)	SORBS1 (G1255R +38 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400846	NM_001034954.3(SORBS1):c.1736C>T (p.Pro579Leu)	SORBS1 (P421L +19 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2398584	NM_001034954.3(SORBS1):c.1643A>G (p.Asn548Ser)	SORBS1 (N406S +22 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385090	NM_001034954.3(SORBS1):c.3760G>A (p.Asp1254Asn)	SORBS1 (D1254N +38 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382968	NM_001034954.3(SORBS1):c.1753T>C (p.Trp585Arg)	SORBS1 (W375R +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2382062	NM_001034954.3(SORBS1):c.802T>A (p.Ser268Thr)	SORBS1 (S199T +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2372919	NM_001034954.3(SORBS1):c.2729C>T (p.Pro910Leu)	SORBS1 (P625L +34 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367447	NM_001034954.3(SORBS1):c.3361C>T (p.Arg1121Cys)	SORBS1 (R1404C +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2367237	NM_001034954.3(SORBS1):c.2891C>T (p.Thr964Met)	SORBS1 (T1234M +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2360019	NM_001034954.3(SORBS1):c.965A>C (p.Lys322Thr)	SORBS1 (K158T +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360018	NM_001034954.3(SORBS1):c.960G>C (p.Gln320His)	SORBS1 (Q188H +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359184	NM_001034954.3(SORBS1):c.49G>A (p.Ala17Thr)	SORBS1 (A17T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353702	NM_001034954.3(SORBS1):c.803C>G (p.Ser268Trp)	SORBS1 (S236W +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2347890	NM_001034954.3(SORBS1):c.520G>A (p.Glu174Lys)	SORBS1 (E142K +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2338413	NM_001034954.3(SORBS1):c.1807A>G (p.Asn603Asp)	SORBS1 (N402D +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2331633	NM_001034954.3(SORBS1):c.2341C>G (p.Leu781Val)	SORBS1 (L524V +29 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2330987	NM_001034954.3(SORBS1):c.2842C>T (p.Arg948Cys)	SORBS1 (R1231C +34 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330402	NM_001034954.3(SORBS1):c.1967C>A (p.Ser656Tyr)	SORBS1 (S362Y +30 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308277	NM_001034954.3(SORBS1):c.2177C>T (p.Thr726Met)	SORBS1 (T1018M +33 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305229	NM_001034954.3(SORBS1):c.1457T>C (p.Ile486Thr)	SORBS1 (I285T +22 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303880	NM_001034954.3(SORBS1):c.3659G>A (p.Arg1220Gln)	SORBS1 (R1490Q +38 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298983	NM_001034954.3(SORBS1):c.1595C>A (p.Pro532His)	SORBS1 (P322H +22 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298197	NM_001034954.3(SORBS1):c.1576A>G (p.Arg526Gly)	SORBS1 (R357G +22 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295496	NM_001034954.3(SORBS1):c.2331T>G (p.Phe777Leu)	SORBS1 (F520L +29 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2293315	NM_001034954.3(SORBS1):c.2149T>G (p.Phe717Val)	SORBS1 (F423V +36 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286508	NM_001034954.3(SORBS1):c.852T>G (p.Ile284Met)	SORBS1 (I161M +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286507	NM_001034954.3(SORBS1):c.851T>A (p.Ile284Asn)	SORBS1 (I161N +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282427	NM_001034954.3(SORBS1):c.3761A>G (p.Asp1254Gly)	SORBS1 (D1228G +38 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278696	NM_001034954.3(SORBS1):c.1433G>A (p.Arg478His)	SORBS1 (R325H +22 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271158	NM_001034954.3(SORBS1):c.2138C>T (p.Ser713Leu)	SORBS1 (S1005L +36 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253777	NM_001034954.3(SORBS1):c.3254C>T (p.Ser1085Leu)	SORBS1 (S1085L +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

<< First< Prev

Page of 2