DAB2[gene] - ClinVar

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Items: 68

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 149824	GRCh38/hg38 5p15.33-q13.3(chr5:22149-74412725)x3	LOC123497907, LOC123497908 +1445 more	Copy number gain	See cases	GPathogenic
Select item 146130	GRCh38/hg38 5p15.33-11(chr5:49978-46114984)x3	CLPTM1L, CMBL +953 more	Copy number gain	See cases	GPathogenic
Select item 58067	GRCh38/hg38 5p15.33-12(chr5:54839-45649861)x3	LOC129993840, LOC129993841 +952 more	Copy number gain	See cases	GPathogenic
Select item 2683745	GRCh38/hg38 5p13.3-12(chr5:29299893-45899898)x3	AGXT2, LOC121725200 +385 more	Copy number gain	See cases	GLikely pathogenic
Select item 148227	GRCh38/hg38 5p13.2-q12.1(chr5:35201559-61903141)x3	ACTBL2, ANKRD55 +518 more	Copy number gain	See cases	GPathogenic
Select item 58092	GRCh38/hg38 5p13.2-12(chr5:35700480-45260029)x3	LOC126807367, LOC126807368 +254 more	Copy number gain	See cases	GPathogenic
Select item 58093	GRCh38/hg38 5p13.2-q11.1(chr5:36374107-51103841)x3	ANXA2R, ANXA2R-AS1 +245 more	Copy number gain	See cases	GPathogenic
Select item 58094	GRCh38/hg38 5p13.2-13.1(chr5:37016043-39383281)x3	C9, CPLANE1 +66 more	Copy number gain	See cases	GPathogenic
Select item 560053	Single allele	C9, DAB2 +24 more	Deletion	not provided	GUncertain significance
Select item 2602946	NM_001343.4(DAB2):c.2291C>T (p.Pro764Leu)	DAB2 (P743L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 737773	NM_001343.4(DAB2):c.2286G>A (p.Arg762=)	DAB2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2340478	NM_001343.4(DAB2):c.2278A>T (p.Met760Leu)	DAB2 (M739L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2615445	NM_001343.4(DAB2):c.2030G>C (p.Gly677Ala)	DAB2 (G677A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2533529	NM_001343.4(DAB2):c.2005C>G (p.Arg669Gly)	DAB2 (R669G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2370531	NM_001343.4(DAB2):c.2002G>A (p.Ala668Thr)	DAB2 (A668T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2362603	NM_001343.4(DAB2):c.1997T>G (p.Val666Gly)	DAB2 (V645G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2517720	NM_001343.4(DAB2):c.1814C>A (p.Ser605Tyr)	DAB2 (S584Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 712448	NM_001343.4(DAB2):c.1759A>G (p.Thr587Ala)	DAB2 (T566A +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2240429	NM_001343.4(DAB2):c.1729G>A (p.Ala577Thr)	DAB2 (A556T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 719334	NM_001343.4(DAB2):c.1630G>A (p.Val544Ile)	DAB2 (V544I +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2334239	NM_001343.4(DAB2):c.1615G>A (p.Gly539Ser)	DAB2 (G539S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 737879	NM_001343.4(DAB2):c.1587G>A (p.Pro529=)	DAB2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2407271	NM_001343.4(DAB2):c.1583C>T (p.Ala528Val)	DAB2 (A528V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 737217	NM_001343.4(DAB2):c.1569G>C (p.Gln523His)	DAB2 (Q502H +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 782450	NM_001343.4(DAB2):c.1514C>T (p.Thr505Ile)	DAB2 (T484I +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2262760	NM_001343.4(DAB2):c.1483G>A (p.Val495Met)	DAB2, LOC126807370 (V474M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 718436	NM_001343.4(DAB2):c.1288A>G (p.Ile430Val)	DAB2, LOC126807371 (I409V +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2219140	NM_001343.4(DAB2):c.1274A>G (p.His425Arg)	DAB2, LOC126807371 (H425R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2655445	NM_001343.4(DAB2):c.1194del (p.Phe398fs)	DAB2, LOC126807371 (F377fs +1 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2531468	NM_001343.4(DAB2):c.1034A>G (p.Gln345Arg)	DAB2, LOC126807371 (Q324R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2303819	NM_001343.4(DAB2):c.1024T>C (p.Tyr342His)	DAB2, LOC126807371 (Y321H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2490289	NM_001343.4(DAB2):c.1000G>T (p.Gly334Trp)	DAB2, LOC126807371 (G313W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2598537	NM_001343.4(DAB2):c.922C>A (p.Pro308Thr)	DAB2, LOC126807371 (P308T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2223550	NM_001343.4(DAB2):c.901A>C (p.Thr301Pro)	DAB2, LOC126807371 (T301P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 740245	NM_001343.4(DAB2):c.888T>C (p.Arg296=)	DAB2, LOC126807371	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 789138	NM_001343.4(DAB2):c.886C>T (p.Arg296Cys)	DAB2, LOC126807371 (R296C +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2314205	NM_001343.4(DAB2):c.871A>G (p.Asn291Asp)	DAB2, LOC126807371 (N291D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2383543	NM_001343.4(DAB2):c.800G>A (p.Arg267Gln)	DAB2, LOC126807371 (R267Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 789737	NM_001343.4(DAB2):c.681T>C (p.Ser227=)	DAB2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 737218	NM_001343.4(DAB2):c.678T>C (p.Asn226=)	DAB2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2522306	NM_001343.4(DAB2):c.677A>G (p.Asn226Ser)	DAB2 (N226S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2306450	NM_001343.4(DAB2):c.661A>G (p.Thr221Ala)	DAB2 (T221A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2518866	NM_001343.4(DAB2):c.629T>A (p.Val210Asp)	DAB2 (V210D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2596361	NM_001343.4(DAB2):c.617T>C (p.Leu206Pro)	DAB2 (L206P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 750989	NM_001343.4(DAB2):c.576G>A (p.Gly192=)	DAB2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 708755	NM_001343.4(DAB2):c.571-9T>A	DAB2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 737673	NM_001343.4(DAB2):c.570+7T>C	DAB2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2532967	NM_001343.4(DAB2):c.553G>A (p.Ala185Thr)	DAB2 (A185T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2322695	NM_001343.4(DAB2):c.475G>T (p.Val159Phe)	DAB2 (V159F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2492788	NM_001343.4(DAB2):c.451A>T (p.Thr151Ser)	DAB2 (T151S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2277686	NM_001343.4(DAB2):c.397G>T (p.Ala133Ser)	DAB2 (A133S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 750470	NM_001343.4(DAB2):c.267C>T (p.His89=)	DAB2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2522424	NM_001343.4(DAB2):c.232G>C (p.Gly78Arg)	DAB2 (G78R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2552513	NM_001343.4(DAB2):c.65C>A (p.Ala22Glu)	DAB2 (A22E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1808669	GRCh37/hg19 5p13.3-11(chr5:29348753-46389339)x3	ADAMTS12, AGXT2 +71 more	Copy number gain	not provided	GPathogenic
Select item 1705919	GRCh37/hg19 5p13.2-11(chr5:36053583-46389339)x3	ANXA2R, C5orf34 +45 more	Copy number gain	musculoskeletal system issues	GPathogenic
Select item 1527153	GRCh37/hg19 5p14.1-11(chr5:26382110-46389339)	ADAMTS12, AGXT2 +72 more	Copy number gain	not specified	GPathogenic
Select item 1180548	GRCh37/hg19 5p13.2-11(chr5:34984696-46405042)x3	AGXT2, ANXA2R +51 more	Copy number gain	not provided	GPathogenic
Select item 1012370	GRCh37/hg19 5p13.3-12(chr5:29081195-45294031)x3	ADAMTS12, AGXT2 +71 more	Copy number gain	See cases	GPathogenic
Select item 814684	GRCh37/hg19 5p13.1-q11.1(chr5:38432180-49441945)x3	GHR, CARD6 +31 more	Copy number gain	not provided	GPathogenic
Select item 687304	GRCh37/hg19 5p13.2-11(chr5:34453883-46389339)x3	AGXT2, ANXA2R +56 more	Copy number gain	not provided	GPathogenic
Select item 635930	Single allele	C5orf24, C5orf34 +600 more	Deletion	Neurodevelopmental disorder	GUncertain significance
Select item 563053	GRCh37/hg19 5p14.1-12(chr5:27227243-45685844)x3	C1QTNF3, C5orf22 +71 more	Copy number gain	not provided	GPathogenic
Select item 442809	GRCh37/hg19 5p14.2-11(chr5:24281195-46389339)x3	ADAMTS12, AGXT2 +73 more	Copy number gain	See cases	GLikely pathogenic
Select item 442431	GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1	ABLIM3, ACOT12 +738 more	Copy number loss	See cases	GPathogenic
Select item 441920	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)	FAT2, FAXDC2 +870 more	Copy number gain	See cases	GPathogenic
Select item 441919	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 253597	GRCh37/hg19 5p15.2-12(chr5:13461664-46098927)x3	RXFP3, GDNF +89 more	Copy number gain	See cases	GPathogenic

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Items: 68