DCBLD2[gene] - ClinVar

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Items: 45

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154258	GRCh38/hg38 3q11.1-24(chr3:93800620-145695381)x3	AMOTL2, DNAJC13 +1343 more	Copy number gain	See cases	GPathogenic
Select item 155192	GRCh38/hg38 3q11.1-13.11(chr3:93819623-103888749)x3	ABI3BP, ADGRG7 +171 more	Copy number gain	See cases	GLikely pathogenic
Select item 145994	GRCh38/hg38 3q11.1-13.31(chr3:93819623-116887056)x1	ADGRG7, ABHD10 +430 more	Copy number loss	See cases	GPathogenic
Select item 57803	GRCh38/hg38 3q11.1-21.1(chr3:93886671-123216683)x1	ALCAM, BTLA +637 more	Copy number loss	See cases	GPathogenic
Select item 2579175	GRCh38/hg38 3q11.1-21.2(chr3:93979547-124774010)x1	ABHD10, ABI3BP +681 more	Copy number loss	Chromosome 3q13.31 deletion syndrome	GPathogenic
Select item 149128	GRCh38/hg38 3q11.2-13.31(chr3:97795369-115663349)x1	ABHD10, ABI3BP +397 more	Copy number loss	See cases	GPathogenic
Select item 2207216	NM_080927.4(DCBLD2):c.2198A>G (p.Asp733Gly)	DCBLD2 (D733G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2350189	NM_080927.4(DCBLD2):c.2185C>A (p.Gln729Lys)	DCBLD2 (Q729K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2464837	NM_080927.4(DCBLD2):c.2147A>G (p.Asn716Ser)	DCBLD2 (N716S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2336156	NM_080927.4(DCBLD2):c.2134G>A (p.Val712Met)	DCBLD2 (V712M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2204413	NM_080927.4(DCBLD2):c.2018C>T (p.Thr673Met)	DCBLD2 (T673M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3060115	NM_080927.4(DCBLD2):c.2014A>G (p.Ile672Val)	DCBLD2 (I672V)	Single nucleotide variant (missense variant)	DCBLD2-related condition	GLikely benign
Select item 2251828	NM_080927.4(DCBLD2):c.1886T>C (p.Ile629Thr)	DCBLD2 (I629T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2218263	NM_080927.4(DCBLD2):c.1801G>A (p.Glu601Lys)	DCBLD2 (E601K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2374367	NM_080927.4(DCBLD2):c.1786C>T (p.Arg596Cys)	DCBLD2 (R596C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2560701	NM_080927.4(DCBLD2):c.1681A>C (p.Thr561Pro)	DCBLD2 (T561P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2212203	NM_080927.4(DCBLD2):c.1445C>A (p.Ala482Asp)	DCBLD2 (A482D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2212202	NM_080927.4(DCBLD2):c.1433C>T (p.Pro478Leu)	DCBLD2 (P478L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2396843	NM_080927.4(DCBLD2):c.1412A>G (p.Asp471Gly)	DCBLD2 (D471G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2593460	NM_080927.4(DCBLD2):c.1367G>A (p.Arg456His)	DCBLD2 (R456H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 787020	NM_080927.4(DCBLD2):c.1173A>G (p.Lys391=)	DCBLD2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3038512	NM_080927.4(DCBLD2):c.1162G>A (p.Asp388Asn)	DCBLD2 (D388N)	Single nucleotide variant (missense variant)	DCBLD2-related condition	GLikely benign
Select item 2353606	NM_080927.4(DCBLD2):c.1111A>G (p.Met371Val)	DCBLD2 (M371V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2265407	NM_080927.4(DCBLD2):c.1034C>T (p.Thr345Ile)	DCBLD2 (T345I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2350349	NM_080927.4(DCBLD2):c.1021G>A (p.Ala341Thr)	DCBLD2 (A341T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2239420	NM_080927.4(DCBLD2):c.1013C>T (p.Pro338Leu)	DCBLD2 (P338L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2387908	NM_080927.4(DCBLD2):c.917C>T (p.Pro306Leu)	DCBLD2 (P306L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2569118	NM_080927.4(DCBLD2):c.911C>T (p.Ala304Val)	DCBLD2 (A304V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2382883	NM_080927.4(DCBLD2):c.829G>A (p.Val277Met)	DCBLD2 (V277M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2392153	NM_080927.4(DCBLD2):c.817G>A (p.Val273Ile)	DCBLD2 (V273I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2346947	NM_080927.4(DCBLD2):c.544G>A (p.Ala182Thr)	DCBLD2 (A182T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2609436	NM_080927.4(DCBLD2):c.485G>A (p.Gly162Asp)	DCBLD2 (G162D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2598623	NM_080927.4(DCBLD2):c.467A>G (p.His156Arg)	DCBLD2 (H156R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2205902	NM_080927.4(DCBLD2):c.310C>T (p.Arg104Cys)	DCBLD2 (R104C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2623526	NM_080927.4(DCBLD2):c.271C>A (p.Gln91Lys)	DCBLD2 (Q91K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 711882	NM_080927.4(DCBLD2):c.175C>T (p.Leu59=)	DCBLD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2212529	NM_080927.4(DCBLD2):c.139A>G (p.Met47Val)	DCBLD2 (M47V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2467131	NM_080927.4(DCBLD2):c.134T>C (p.Phe45Ser)	DCBLD2 (F45S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2687845	NM_080927.4(DCBLD2):c.80G>A (p.Trp27Ter)	DCBLD2 (W27*)	Single nucleotide variant (nonsense)	not specified	GUncertain significance
Select item 3062743	GRCh37/hg19 3q11.1-12.3(chr3:93519465-101464485)x3	ABI3BP, ADGRG7 +41 more	Copy number gain	not specified	GUncertain significance
Select item 1676304	GRCh37/hg19 3p13-q12.1(chr3:72488757-99614758)x3	ARL13B, ARL6 +47 more	Copy number gain	not provided	GLikely pathogenic
Select item 980049	GRCh37/hg19 3q12.1(chr3:98416960-98618961)x4	DCBLD2, ST3GAL6	Copy number gain	not provided	GUncertain significance
Select item 980048	GRCh37/hg19 3q11.2-12.3(chr3:95563096-102371126)x1	OR5AC2, GPR15 +39 more	Copy number loss	not provided	GLikely pathogenic
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	FBXL2, FBXO40 +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic

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Items: 45