ClinVar for Gene (Select 10174) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3321465	NM_005775.5(SORBS3):c.2002G>T (p.Val668Phe)	SORBS3 (V668F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321464	NM_005775.5(SORBS3):c.272G>A (p.Ser91Asn)	SORBS3 (S91N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321463	NM_005775.5(SORBS3):c.844C>A (p.Leu282Met)	SORBS3 (L282M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321462	NM_005775.5(SORBS3):c.1274G>A (p.Arg425His)	SORBS3 (R425H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321461	NM_005775.5(SORBS3):c.1874C>T (p.Pro625Leu)	SORBS3 (P283L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167534	NM_005775.5(SORBS3):c.92G>C (p.Arg31Pro)	SORBS3 (R31P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167533	NM_005775.5(SORBS3):c.88T>C (p.Ser30Pro)	SORBS3 (S30P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167532	NM_005775.5(SORBS3):c.824T>G (p.Leu275Arg)	SORBS3 (L275R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167531	NM_005775.5(SORBS3):c.823C>G (p.Leu275Val)	SORBS3 (L275V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167530	NM_005775.5(SORBS3):c.77T>A (p.Ile26Lys)	SORBS3 (I26K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167529	NM_005775.5(SORBS3):c.716A>G (p.Glu239Gly)	SORBS3 (E239G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167528	NM_005775.5(SORBS3):c.689G>C (p.Arg230Pro)	SORBS3 (R230P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167526	NM_005775.5(SORBS3):c.418G>A (p.Val140Ile)	SORBS3 (V140I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167525	NM_005775.5(SORBS3):c.341G>A (p.Arg114Gln)	SORBS3 (R114Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167524	NM_005775.5(SORBS3):c.279G>T (p.Lys93Asn)	SORBS3 (K93N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167523	NM_005775.5(SORBS3):c.25C>T (p.Arg9Cys)	SORBS3 (R9C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167522	NM_005775.5(SORBS3):c.1901G>C (p.Arg634Pro)	SORBS3 (R292P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167521	NM_005775.5(SORBS3):c.1675G>C (p.Gly559Arg)	SORBS3 (G217R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167520	NM_005775.5(SORBS3):c.1648C>T (p.Arg550Cys)	SORBS3 (R208C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167518	NM_005775.5(SORBS3):c.1567G>A (p.Asp523Asn)	SORBS3 (D181N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167517	NM_005775.5(SORBS3):c.1270G>A (p.Gly424Ser)	SORBS3 (G424S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167516	NM_005775.5(SORBS3):c.1264C>T (p.His422Tyr)	SORBS3 (H422Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167515	NM_005775.5(SORBS3):c.1039G>A (p.Gly347Arg)	SORBS3 (G5R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063038	GRCh37/hg19 8p21.3-11.1(chr8:20136266-43786723)x3	ADAM18, ADAM2 +150 more	Copy number gain	not specified	GPathogenic
Select item 3063027	GRCh37/hg19 8p23.3-11.21(chr8:158048-41600696)x3	ADAM18, ADAM2 +234 more	Copy number gain	not specified	GPathogenic
Select item 3063013	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	AARD, ABRA +665 more	Copy number gain	not specified	GPathogenic
Select item 2685301	GRCh37/hg19 8p23.1-21.1(chr8:12490999-28150620)x1	HR, MIR320A +95 more	Copy number loss	not provided	GPathogenic
Select item 2684529	GRCh37/hg19 8p22-11.1(chr8:14240573-43824035)x3	ADAM18, ADAM2 +176 more	Copy number gain	not provided	GPathogenic
Select item 2684528	GRCh37/hg19 8p23.1-11.22(chr8:12560782-38748763)x3	ADAM28, ADAM7 +145 more	Copy number gain	not provided	GPathogenic
Select item 2684526	GRCh37/hg19 8p23.1-11.23(chr8:11945856-37902453)x3	ADAM28, ADAM7 +140 more	Copy number gain	not provided	GPathogenic
Select item 2684517	GRCh37/hg19 8p23.2-11.21(chr8:2201405-41723095)x3	SMIM18, SORBS3 +225 more	Copy number gain	not provided	GPathogenic
Select item 2671608	Single allele	ADAM18, ADAM2 +180 more	Duplication	not provided	GPathogenic
Select item 2671605	Single allele	BIN3, BMP1 +24 more	Duplication	not provided	GUncertain significance
Select item 2658468	NM_005775.5(SORBS3):c.698T>C (p.Val233Ala)	SORBS3 (V233A)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2602204	NM_005775.5(SORBS3):c.689G>A (p.Arg230Gln)	SORBS3 (R230Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2598881	NM_005775.5(SORBS3):c.493T>C (p.Trp165Arg)	SORBS3 (W165R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591686	NM_005775.5(SORBS3):c.83C>T (p.Ser28Phe)	SORBS3 (S28F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591145	NM_005775.5(SORBS3):c.17G>A (p.Arg6His)	SORBS3 (R6H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2579290	GRCh38/hg38 8p23.3-21.2(chr8:449893-23854904)x1	LOC126860300, LOC126860301 +720 more	Copy number loss	Neurodevelopmental disorder	GPathogenic
Select item 2579268	GRCh38/hg38 8p23.1-12(chr8:12721809-30183737)x1	ADAM28, ADAM7 +567 more	Copy number loss	Microcephaly	GPathogenic
Select item 2559204	NM_005775.5(SORBS3):c.74A>G (p.His25Arg)	SORBS3 (H25R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552843	NM_005775.5(SORBS3):c.1727C>T (p.Pro576Leu)	SORBS3 (P576L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547812	NM_005775.5(SORBS3):c.896C>T (p.Ser299Phe)	SORBS3 (S299F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540839	NM_005775.5(SORBS3):c.457C>G (p.Gln153Glu)	SORBS3 (Q153E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526571	NM_005775.5(SORBS3):c.332G>A (p.Ser111Asn)	SORBS3 (S111N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524302	NM_005775.5(SORBS3):c.808C>T (p.Pro270Ser)	SORBS3 (P270S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517694	NM_005775.5(SORBS3):c.818T>G (p.Val273Gly)	SORBS3 (V273G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515291	NM_005775.5(SORBS3):c.1622G>A (p.Arg541His)	SORBS3 (R199H +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2499083	GRCh37/hg19 8p21.3-21.2(chr8:21925038-26372195)x1	ADAM28, ADAM7 +46 more	Copy number loss	not provided	GLikely pathogenic
Select item 2496013	NM_005775.5(SORBS3):c.200G>A (p.Arg67Gln)	SORBS3 (R67Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2465360	NM_005775.5(SORBS3):c.1540C>T (p.Arg514Cys)	SORBS3 (R514C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460789	NM_005775.5(SORBS3):c.571A>G (p.Thr191Ala)	LOC129999984, SORBS3 (T191A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2403762	NM_005775.5(SORBS3):c.842A>T (p.Glu281Val)	SORBS3 (E281V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399041	NM_005775.5(SORBS3):c.787C>T (p.Pro263Ser)	SORBS3 (P263S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2397932	NM_005775.5(SORBS3):c.1852C>T (p.Arg618Trp)	SORBS3 (R276W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396468	NM_005775.5(SORBS3):c.1853G>A (p.Arg618Gln)	SORBS3 (R618Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386794	NM_005775.5(SORBS3):c.688C>G (p.Arg230Gly)	SORBS3 (R230G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385922	NM_005775.5(SORBS3):c.1549C>T (p.Arg517Trp)	SORBS3 (R175W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379751	NM_005775.5(SORBS3):c.760A>G (p.Arg254Gly)	SORBS3 (R254G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376021	NM_005775.5(SORBS3):c.467G>A (p.Arg156Gln)	SORBS3 (R156Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371045	NM_005775.5(SORBS3):c.1097G>A (p.Ser366Asn)	SORBS3 (S366N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366385	NM_005775.5(SORBS3):c.350G>A (p.Arg117His)	SORBS3 (R117H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363441	NM_005775.5(SORBS3):c.791G>C (p.Gly264Ala)	SORBS3 (G264A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360944	NM_005775.5(SORBS3):c.153C>G (p.His51Gln)	SORBS3 (H51Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358104	NM_005775.5(SORBS3):c.1453C>T (p.Arg485Cys)	SORBS3 (R143C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355965	NM_005775.5(SORBS3):c.867C>A (p.Asp289Glu)	SORBS3 (D289E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344622	NM_005775.5(SORBS3):c.908C>T (p.Ser303Leu)	LOC129999985, SORBS3 (S303L)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 2332281	NM_005775.5(SORBS3):c.1058G>T (p.Arg353Leu)	SORBS3 (R11L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318414	NM_005775.5(SORBS3):c.1566C>G (p.Asp522Glu)	SORBS3 (D180E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304353	NM_005775.5(SORBS3):c.1856C>T (p.Ala619Val)	SORBS3 (A619V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296193	NM_005775.5(SORBS3):c.566C>G (p.Pro189Arg)	LOC129999984, SORBS3 (P189R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293824	NM_005775.5(SORBS3):c.154G>C (p.Asp52His)	SORBS3 (D52H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288189	NM_005775.5(SORBS3):c.415A>G (p.Ser139Gly)	SORBS3 (S139G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280686	NM_005775.5(SORBS3):c.1747C>G (p.Leu583Val)	SORBS3 (L583V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278372	NM_005775.5(SORBS3):c.940C>T (p.Pro314Ser)	LOC129999985, SORBS3 (P314S)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2264810	NM_005775.5(SORBS3):c.1477G>A (p.Glu493Lys)	SORBS3 (E493K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258868	NM_005775.5(SORBS3):c.43G>A (p.Asp15Asn)	SORBS3 (D15N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244257	NM_005775.5(SORBS3):c.1915G>A (p.Val639Met)	SORBS3 (V639M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242171	NM_005775.5(SORBS3):c.46G>A (p.Asp16Asn)	SORBS3 (D16N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240658	NM_005775.5(SORBS3):c.466C>T (p.Arg156Trp)	SORBS3 (R156W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235227	NM_005775.5(SORBS3):c.1691C>T (p.Pro564Leu)	SORBS3 (P222L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225017	NM_005775.5(SORBS3):c.1594C>T (p.Arg532Cys)	SORBS3 (R190C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224536	NM_005775.5(SORBS3):c.686G>A (p.Arg229His)	SORBS3 (R229H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1711134	Single allele	CDCA2, CLDN23 +250 more	Complex	See cases	GPathogenic
Select item 1707427	GRCh37/hg19 8p23.3-12(chr8:158048-30187456)x1	ADAM28, ADAM7 +180 more	Copy number loss	See cases	GPathogenic
Select item 1703665	Single allele	ADAMDEC1, ADGRA2 +251 more	Complex	8p inverted duplication/deletion syndrome	GPathogenic
Select item 1703544	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)	AARD, ABRA +665 more	Copy number gain	Polydactyly	GPathogenic
Select item 1410288	NC_000008.10:g.(?_21900440)_(23564111_?)dup	BIN3, BMP1 +32 more	Duplication	Conotruncal heart malformations	GUncertain significance
Select item 1341975	GRCh37/hg19 8p21.3-21.2(chr8:19779604-26531980)x4	PIWIL2, STC1 +55 more	Copy number gain	not provided	GPathogenic
Select item 997076	GRCh37/hg19 8p23.3-11.1(chr8:176814-43396776)	SPAG11A, STMN4 +252 more	Copy number gain	Abnormal fetal cardiovascular morphology	GPathogenic
Select item 980854	GRCh37/hg19 8p23.1-12(chr8:12528482-29886483)x3	ADAM28, ADAM7 +104 more	Copy number gain	not provided	GLikely pathogenic
Select item 792102	NM_005775.5(SORBS3):c.1751G>A (p.Gly584Asp)	SORBS3 (G242D +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 790603	NM_005775.5(SORBS3):c.841G>A (p.Glu281Lys)	SORBS3 (E281K)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 790049	NM_005775.5(SORBS3):c.486G>T (p.Gln162His)	SORBS3 (Q162H)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 782508	NM_005775.5(SORBS3):c.707T>C (p.Val236Ala)	SORBS3 (V236A)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 776290	NM_005775.5(SORBS3):c.1212T>A (p.Gly404=)	SORBS3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 757525	NM_005775.5(SORBS3):c.45C>T (p.Asp15=)	SORBS3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 755072	NM_005775.5(SORBS3):c.378C>T (p.Pro126=)	SORBS3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 736287	NM_005775.5(SORBS3):c.1497G>A (p.Thr499=)	SORBS3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 730958	NM_005775.5(SORBS3):c.1649G>A (p.Arg550His)	SORBS3 (R550H +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign

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