SORBS1[gene] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 142

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58776	GRCh38/hg38 10q23.33-24.2(chr10:92626680-97755102)x1	LOC105378448, LOC107195252 +245 more	Copy number loss	See cases	GPathogenic
Select item 148854	GRCh38/hg38 10q23.33-24.1(chr10:92643919-95471137)x1	ACSM6, CEP55 +105 more	Copy number loss	See cases	GPathogenic
Select item 58777	GRCh38/hg38 10q23.33-24.32(chr10:93181201-101356779)x1	LOC130004555, LOC130004556 +375 more	Copy number loss	See cases	GPathogenic
Select item 153831	GRCh38/hg38 10q23.33-24.1(chr10:94376979-95466604)x3	ACSM6, CYP2C18 +45 more	Copy number gain	See cases	GUncertain significance
Select item 148908	GRCh38/hg38 10q23.33-24.1(chr10:94401557-95444828)x3	ACSM6, CYP2C18 +43 more	Copy number gain	See cases	GUncertain significance
Select item 57474	GRCh38/hg38 10q23.33-24.1(chr10:94872737-95346558)x3	ACSM6, CYP2C8 +28 more	Copy number gain	See cases	GUncertain significance
Select item 57116	GRCh38/hg38 10q23.33-25.3(chr10:95112607-116776637)x3	LOC130004500, LOC130004501 +821 more	Copy number gain	See cases	GPathogenic
Select item 780886	NM_001034954.3(SORBS1):c.3834G>A (p.Gln1278=)	SORBS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 709983	NM_001034954.3(SORBS1):c.3830A>G (p.Lys1277Arg)	SORBS1 (K1136R +38 more)	Single nucleotide variant (missense variant)	not provided	GBenign
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 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 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 2236390	NM_001034954.3(SORBS1):c.3760G>T (p.Asp1254Tyr)	SORBS1 (D1113Y +38 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 742952	NM_001034954.3(SORBS1):c.3747G>A (p.Glu1249=)	SORBS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 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 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 2204764	NM_001034954.3(SORBS1):c.3532G>A (p.Gly1178Ser)	SORBS1 (G1132S +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
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 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 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 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 2514355	NM_001034954.3(SORBS1):c.3307G>A (p.Val1103Ile)	SORBS1 (V1103I +5 more)	Single nucleotide variant (missense variant +1 more)	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
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 161502	NM_001034954.3(SORBS1):c.3140G>C (p.Arg1047Pro)	SORBS1 (R1047P +4 more)	Single nucleotide variant (missense variant +1 more)	Malignant tumor of prostate	GUncertain significance
Select item 2224567	NM_001034954.3(SORBS1):c.3128G>A (p.Arg1043His)	SORBS1 (R1313H +4 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 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 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 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 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 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 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 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 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 2206335	NM_001034954.3(SORBS1):c.2785C>T (p.Pro929Ser)	SORBS1 (P635S +34 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 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 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 2228259	NM_001034954.3(SORBS1):c.2696A>T (p.Gln899Leu)	SORBS1 (Q1169L +34 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 709702	NM_001034954.3(SORBS1):c.2670+6C>G	SORBS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 709984	NM_001034954.3(SORBS1):c.2570A>G (p.Gln857Arg)	SORBS1 (Q507R +34 more)	Single nucleotide variant (missense variant)	not provided	GBenign
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 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 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 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 2220878	NM_001034954.3(SORBS1):c.2245C>T (p.Arg749Cys)	SORBS1 (R464C +29 more)	Single nucleotide variant (missense variant +1 more)	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 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 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 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 733737	NM_001034954.3(SORBS1):c.2019T>C (p.Thr673=)	SORBS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 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 2238236	NM_001034954.3(SORBS1):c.1959A>G (p.Ile653Met)	SORBS1 (I428M +30 more)	Single nucleotide variant (missense variant)	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 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 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 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 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 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 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 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 748897	NM_001034954.3(SORBS1):c.1654-9C>T	SORBS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 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 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 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 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 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 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 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 709703	NM_001034954.3(SORBS1):c.1371A>G (p.Ser457=)	SORBS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 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 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 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 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 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 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 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 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 2221123	NM_001034954.3(SORBS1):c.898G>A (p.Ala300Thr)	SORBS1 (A145T +8 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 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 2382062	NM_001034954.3(SORBS1):c.802T>A (p.Ser268Thr)	SORBS1 (S199T +4 more)	Single nucleotide variant (intron 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 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 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 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

<< First< Prev

Page of 2