4046[HGNC] - ClinVar

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Items: 64

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 152998	GRCh38/hg38 10p15.1-q11.22(chr10:4604734-48074662)x3	ABI1, ACBD5 +1221 more	Copy number gain	See cases	GBenign
Select item 146088	GRCh38/hg38 10p11.22-11.1(chr10:31999920-38119681)x3	ANKRD30A, CCDC7 +119 more	Copy number gain	See cases	GPathogenic
Select item 560084	Single allele	CCNY, CCNY-AS1 +65 more	Deletion	not provided	GUncertain significance
Select item 59701	GRCh38/hg38 10p11.21(chr10:34686264-35684215)x3	FZD8, CCNY +48 more	Copy number gain	See cases	GPathogenic
Select item 2283426	NM_031866.3(FZD8):c.2039C>G (p.Ala680Gly)	FZD8 (A680G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2230450	NM_031866.3(FZD8):c.2036C>T (p.Thr679Met)	FZD8 (T679M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097704	NM_031866.3(FZD8):c.1964G>T (p.Gly655Val)	FZD8 (G655V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544424	NM_031866.3(FZD8):c.1945G>C (p.Gly649Arg)	FZD8 (G649R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342984	NM_031866.3(FZD8):c.1937G>A (p.Gly646Asp)	FZD8 (G646D)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2313886	NM_031866.3(FZD8):c.1906A>G (p.Thr636Ala)	FZD8 (T636A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482619	NM_031866.3(FZD8):c.1891G>A (p.Gly631Arg)	FZD8 (G631R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591865	NM_031866.3(FZD8):c.1886T>G (p.Val629Gly)	FZD8 (V629G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260186	NM_031866.3(FZD8):c.1883C>T (p.Ala628Val)	FZD8 (A628V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2640408	NM_031866.3(FZD8):c.1725C>T (p.Pro575=)	FZD8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2299372	NM_031866.3(FZD8):c.1722G>T (p.Gln574His)	FZD8 (Q574H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410309	NM_031866.3(FZD8):c.1679G>A (p.Arg560His)	FZD8 (R560H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263310	NM_031866.3(FZD8):c.1505C>T (p.Ala502Val)	FZD8, LOC124403940 (A502V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280309	NM_031866.3(FZD8):c.1494G>A (p.Met498Ile)	FZD8, LOC124403940 (M498I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280307	NM_031866.3(FZD8):c.1439A>G (p.Asn480Ser)	FZD8, LOC124403940 (N480S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314828	NM_031866.3(FZD8):c.1298C>T (p.Ala433Val)	FZD8, LOC124403940 (A433V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097703	NM_031866.3(FZD8):c.1228A>G (p.Ser410Gly)	FZD8, LOC124403940 (S410G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242671	NM_031866.3(FZD8):c.1210T>A (p.Tyr404Asn)	FZD8 (Y404N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097702	NM_031866.3(FZD8):c.1108C>G (p.Pro370Ala)	FZD8 (P370A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556724	NM_031866.3(FZD8):c.1100C>T (p.Ala367Val)	FZD8 (A367V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382693	NM_031866.3(FZD8):c.1093G>C (p.Ala365Pro)	FZD8 (A365P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097701	NM_031866.3(FZD8):c.1088C>G (p.Ala363Gly)	FZD8 (A363G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209319	NM_031866.3(FZD8):c.1088C>T (p.Ala363Val)	FZD8 (A363V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329816	NM_031866.3(FZD8):c.817G>A (p.Glu273Lys)	FZD8, LOC130003691 (E273K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271041	NM_031866.3(FZD8):c.793C>T (p.His265Tyr)	FZD8, LOC130003691 (H265Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214905	NM_031866.3(FZD8):c.768G>C (p.Gln256His)	FZD8 (Q256H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392806	NM_031866.3(FZD8):c.707C>T (p.Ala236Val)	FZD8 (A236V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2612419	NM_031866.3(FZD8):c.692G>A (p.Gly231Glu)	FZD8 (G231E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596317	NM_031866.3(FZD8):c.670G>C (p.Gly224Arg)	FZD8, LOC130003692 (G224R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493709	NM_031866.3(FZD8):c.661C>T (p.Pro221Ser)	FZD8, LOC130003692 (P221S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616606	NM_031866.3(FZD8):c.598G>A (p.Gly200Ser)	FZD8, LOC130003692 (G200S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365228	NM_031866.3(FZD8):c.595G>A (p.Gly199Ser)	FZD8, LOC130003692 (G199S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365836	NM_031866.3(FZD8):c.574C>T (p.His192Tyr)	FZD8 (H192Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314214	NM_031866.3(FZD8):c.572C>G (p.Pro191Arg)	FZD8 (P191R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346238	NM_031866.3(FZD8):c.568C>T (p.Pro190Ser)	FZD8 (P190S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097706	NM_031866.3(FZD8):c.566G>A (p.Arg189Lys)	FZD8 (R189K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2621053	NM_031866.3(FZD8):c.556C>T (p.Pro186Ser)	FZD8 (P186S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280306	NM_031866.3(FZD8):c.530C>T (p.Pro177Leu)	FZD8 (P177L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557860	NM_031866.3(FZD8):c.518G>C (p.Gly173Ala)	FZD8 (G173A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483734	NM_031866.3(FZD8):c.488C>T (p.Pro163Leu)	FZD8 (P163L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097705	NM_031866.3(FZD8):c.347C>G (p.Ala116Gly)	FZD8 (A116G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2621487	NM_031866.3(FZD8):c.322C>G (p.Arg108Gly)	FZD8 (R108G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466331	NM_031866.3(FZD8):c.167A>G (p.Gln56Arg)	FZD8 (Q56R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2640409	NM_031866.3(FZD8):c.78G>A (p.Ala26=)	FZD8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3280308	NM_031866.3(FZD8):c.73G>C (p.Ala25Pro)	FZD8 (A25P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097707	NM_031866.3(FZD8):c.71G>A (p.Gly24Asp)	FZD8 (G24D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2685372	GRCh37/hg19 10p11.22-11.21(chr10:32617120-36913676)x1	CCDC7, CCNY +8 more	Copy number loss	not provided	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 1339781	GRCh37/hg19 10p15.3-q11.22(chr10:135655-47688677)x4	ARL5B, LARP4B +180 more	Copy number gain	Mosaic supernumerary isodicentric chromosome 10	Gnot provided
Select item 980363	GRCh37/hg19 10p11.21(chr10:35734289-37038603)x3	GJD4, CCNY +1 more	Copy number gain	not provided	GUncertain significance
Select item 980362	GRCh37/hg19 10p11.21(chr10:35868495-36090314)x3	FZD8, GJD4	Copy number gain	not provided	GLikely benign
Select item 684909	GRCh37/hg19 10p11.21(chr10:34795319-36729226)x1	CREM, CUL2 +4 more	Copy number loss	not provided	GUncertain significance
Select item 443260	GRCh37/hg19 10p15.3-q11.23(chr10:100026-50961640)x3	ABI1, ACBD5 +205 more	Copy number gain	See cases	GPathogenic
Select item 442070	GRCh37/hg19 10p11.21(chr10:34613818-36003507)x3	CCNY, CREM +4 more	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
Select item 441986	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3	A1CF, ABCC2 +721 more	Copy number gain	See cases	GPathogenic
Select item 394193	GRCh37/hg19 10p11.21(chr10:35895944-35929360)x3	FZD8, GJD4	Copy number gain	See cases	GLikely benign
Select item 393995	GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3	A1CF, ABCC2 +722 more	Copy number gain	See cases	GPathogenic
Select item 221475	GRCh37/hg19 10p11.22-11.21(chr10:32323692-37520394)x3	CREM, CUL2 +10 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance

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Items: 64