DAB1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2672311	Single allele	A3GALT2, ACOT11 +1226 more	Inversion	Bilateral polymicrogyria	GLikely pathogenic
Select item 58079	GRCh38/hg38 1p32.3-31.1(chr1:52595352-76767765)x3	ACADM, ACOT11 +570 more	Copy number gain	See cases	GPathogenic
Select item 153325	GRCh38/hg38 1p32.3-31.3(chr1:52787503-67339873)x3	ACOT11, AK4 +422 more	Copy number gain	See cases	GLikely pathogenic
Select item 150647	GRCh38/hg38 1p32.3-31.3(chr1:53627272-64248854)x1	ACOT11, ALG6 +280 more	Copy number loss	See cases	GPathogenic
Select item 59968	GRCh38/hg38 1p32.3-31.3(chr1:53738212-61439648)x1	ACOT11, BSND +205 more	Copy number loss	See cases	GPathogenic
Select item 149037	GRCh38/hg38 1p32.2(chr1:56429283-57190889)x3	C8A, C8B +16 more	Copy number gain	See cases	GUncertain significance
Select item 2409182	NM_001365792.1(DAB1):c.1660G>A (p.Gly554Ser)	DAB1 (G552S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 786991	NM_001365792.1(DAB1):c.1660G>T (p.Gly554Cys)	DAB1 (G552C +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 780002	NM_001365792.1(DAB1):c.1659C>T (p.Ala553=)	DAB1	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 2546474	NM_001365792.1(DAB1):c.1621A>G (p.Ser541Gly)	DAB1 (S541G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524683	NM_001365792.1(DAB1):c.1610T>C (p.Phe537Ser)	DAB1 (F537S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079877	NM_001365792.1(DAB1):c.1606C>G (p.Pro536Ala)	DAB1 (P536A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3339692	NM_001365792.1(DAB1):c.1547C>T (p.Pro516Leu)	DAB1 (P514L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509313	NM_001365792.1(DAB1):c.1522A>G (p.Ile508Val)	DAB1 (I508V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3337014	NM_001365792.1(DAB1):c.1472C>G (p.Ser491Cys)	DAB1 (S489C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1266639	NM_001365792.1(DAB1):c.1445-89C>G	DAB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1271668	NM_001365792.1(DAB1):c.1445-205C>T	DAB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1235828	NM_001365792.1(DAB1):c.1444+132G>C	DAB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 738808	NM_001365792.1(DAB1):c.1444+8C>A	DAB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3270768	NM_001365792.1(DAB1):c.1405T>A (p.Leu469Met)	DAB1 (L467M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 749620	NM_001365792.1(DAB1):c.1371C>T (p.Asp457=)	DAB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2406767	NM_001365792.1(DAB1):c.1351G>A (p.Gly451Arg)	DAB1 (G449R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1319666	NM_001365792.1(DAB1):c.1310C>T (p.Thr437Ile)	DAB1 (T435I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2221450	NM_001365792.1(DAB1):c.1286G>A (p.Arg429His)	DAB1 (R427H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079876	NM_001365792.1(DAB1):c.1276G>A (p.Val426Met)	DAB1 (V424M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3058113	NM_001365792.1(DAB1):c.1272G>A (p.Pro424=)	DAB1	Single nucleotide variant (synonymous variant)	DAB1-related disorder	GLikely benign
Select item 3358362	NM_001365792.1(DAB1):c.1229T>C (p.Met410Thr)	DAB1 (M408T +1 more)	Single nucleotide variant (missense variant)	DAB1-related disorder	GLikely benign
Select item 3270769	NM_001365792.1(DAB1):c.1186T>C (p.Ser396Pro)	DAB1 (S396P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 749889	NM_001365792.1(DAB1):c.1179G>A (p.Thr393=)	DAB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3337015	NM_001365792.1(DAB1):c.1171C>T (p.Pro391Ser)	DAB1 (P389S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2393123	NM_001365792.1(DAB1):c.1168G>A (p.Val390Ile)	DAB1 (V388I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079875	NM_001365792.1(DAB1):c.1156C>T (p.Pro386Ser)	DAB1 (P386S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079874	NM_001365792.1(DAB1):c.1126C>G (p.Pro376Ala)	DAB1 (P374A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 774580	NM_001365792.1(DAB1):c.1104C>T (p.Pro368=)	DAB1	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 3270770	NM_001365792.1(DAB1):c.1102C>G (p.Pro368Ala)	DAB1 (P368A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2672337	NM_001365792.1(DAB1):c.1091C>G (p.Ala364Gly)	DAB1 (A362G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3257085	NM_001365792.1(DAB1):c.1085C>T (p.Pro362Leu)	DAB1 (P360L +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 221922	NM_001365792.1(DAB1):c.1075G>A (p.Gly359Arg)	DAB1 (G359R +1 more)	Single nucleotide variant (missense variant)	Irido-corneo-trabecular dysgenesis +1 more	GLikely benign
Select item 3053243	NM_001365792.1(DAB1):c.1074C>T (p.Ala358=)	DAB1	Single nucleotide variant (synonymous variant)	DAB1-related disorder	GLikely benign
Select item 3270767	NM_001365792.1(DAB1):c.1037T>C (p.Leu346Pro)	DAB1 (L346P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602852	NM_001365792.1(DAB1):c.1031C>T (p.Pro344Leu)	DAB1 (P342L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3046012	NM_001365792.1(DAB1):c.1017C>T (p.Ile339=)	DAB1	Single nucleotide variant (synonymous variant)	DAB1-related disorder	GLikely benign
Select item 2398536	NM_001365792.1(DAB1):c.1001C>T (p.Pro334Leu)	DAB1 (P332L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212002	NM_001365792.1(DAB1):c.988G>A (p.Ala330Thr)	DAB1 (A330T +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2272952	NM_001365792.1(DAB1):c.982C>T (p.Pro328Ser)	DAB1 (P328S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079881	NM_001365792.1(DAB1):c.964G>T (p.Val322Phe)	DAB1 (V320F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 754364	NM_001365792.1(DAB1):c.924G>A (p.Pro308=)	DAB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3079880	NM_001365792.1(DAB1):c.898T>C (p.Tyr300His)	DAB1 (Y298H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1180157	NM_001365792.1(DAB1):c.896-180A>G	DAB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1269191	NM_001365792.1(DAB1):c.895+67A>G	DAB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2243528	NM_001365792.1(DAB1):c.875G>A (p.Gly292Asp)	DAB1 (G292D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591354	NM_001365792.1(DAB1):c.874G>A (p.Gly292Ser)	DAB1 (G290S +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3041471	NM_001365792.1(DAB1):c.860G>A (p.Ser287Asn)	DAB1 (S285N +1 more)	Single nucleotide variant (missense variant)	DAB1-related disorder	GBenign
Select item 716274	NM_001365792.1(DAB1):c.838C>T (p.Pro280Ser)	DAB1 (P280S +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3079879	NM_001365792.1(DAB1):c.833C>A (p.Thr278Asn)	DAB1 (T276N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 726037	NM_001365792.1(DAB1):c.793G>A (p.Ala265Thr)	DAB1 (A263T +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1242726	NM_001365792.1(DAB1):c.787-194C>T	DAB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1276143	NM_001365792.1(DAB1):c.787-217T>G	DAB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2600705	NM_001365792.1(DAB1):c.772A>G (p.Ile258Val)	DAB1 (I256V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1027503	NM_001365792.1(DAB1):c.763C>T (p.Pro255Ser)	DAB1 (P253S +1 more)	Single nucleotide variant (missense variant)	Spastic ataxia	GLikely pathogenic
Select item 2638843	NM_001365792.1(DAB1):c.724-7520C>T	DAB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1234719	NM_001365792.1(DAB1):c.723+34G>A	DAB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2346807	NM_001365792.1(DAB1):c.718G>C (p.Val240Leu)	DAB1 (V240L)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 2478492	NM_001365792.1(DAB1):c.670A>C (p.Thr224Pro)	DAB1 (T224P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3058144	NM_001365792.1(DAB1):c.669C>T (p.Pro223=)	DAB1	Single nucleotide variant (synonymous variant)	DAB1-related disorder	GLikely benign
Select item 1287025	NM_001365792.1(DAB1):c.664-156T>C	DAB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2362353	NM_001365792.1(DAB1):c.643A>G (p.Thr215Ala)	DAB1 (T215A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399719	NM_001365792.1(DAB1):c.635A>G (p.Asp212Gly)	DAB1 (D212G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 717645	NM_001365792.1(DAB1):c.621C>T (p.His207=)	DAB1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 758777	NM_001365792.1(DAB1):c.615T>C (p.Ala205=)	DAB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1257976	NM_001365792.1(DAB1):c.598-100G>T	DAB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1228789	NM_001365792.1(DAB1):c.597+114A>G	DAB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1248660	NM_001365792.1(DAB1):c.559-207T>C	DAB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1243415	NM_001365792.1(DAB1):c.558+133C>T	DAB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2316324	NM_001365792.1(DAB1):c.514A>G (p.Lys172Glu)	DAB1 (K172E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 760870	NM_001365792.1(DAB1):c.471C>T (p.Leu157=)	DAB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2638844	NM_001365792.1(DAB1):c.439-3C>T	DAB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1224981	NM_001365792.1(DAB1):c.438+224A>G	DAB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1258944	NM_001365792.1(DAB1):c.438+202dup	DAB1	Duplication (intron variant)	not provided	GBenign
Select item 1294634	NM_001365792.1(DAB1):c.438+217_438+218del	DAB1	Deletion (intron variant)	not provided	GBenign
Select item 1264034	NM_001365792.1(DAB1):c.438+218del	DAB1	Deletion (intron variant)	not provided	GBenign
Select item 1281200	NM_001365792.1(DAB1):c.438+201G>C	DAB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1286261	NM_001365792.1(DAB1):c.438+188T>C	DAB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 737519	NM_001365792.1(DAB1):c.438+10C>T	DAB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2635858	NM_001365792.1(DAB1):c.438G>A (p.Ala146=)	DAB1	Single nucleotide variant (synonymous variant)	DAB1-related disorder	GUncertain significance
Select item 3270765	NM_001365792.1(DAB1):c.410G>A (p.Arg137Lys)	DAB1 (R137K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1675367	NM_001365792.1(DAB1):c.359T>C (p.Ile120Thr)	DAB1 (I120T)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3051613	NM_001365792.1(DAB1):c.318T>G (p.His106Gln)	DAB1 (H106Q)	Single nucleotide variant (missense variant)	DAB1-related disorder	GLikely benign
Select item 3044537	NM_001365792.1(DAB1):c.307-10dup	DAB1	Duplication (intron variant)	DAB1-related disorder	GBenign
Select item 775550	NM_001365792.1(DAB1):c.307-9C>T	DAB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 773811	NM_001365792.1(DAB1):c.307-10del	DAB1	Deletion (intron variant)	not provided	GBenign
Select item 1311659	NM_001365792.1(DAB1):c.292G>A (p.Asp98Asn)	DAB1 (D98N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2526101	NM_001365792.1(DAB1):c.223G>A (p.Ala75Thr)	DAB1 (A75T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 771116	NM_001365792.1(DAB1):c.211G>A (p.Val71Ile)	DAB1 (V71I)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1298313	NM_001365792.1(DAB1):c.209G>A (p.Gly70Asp)	DAB1 (G70D)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 37	GUncertain significance
Select item 1285755	NM_001365792.1(DAB1):c.208-20C>T	DAB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1267117	NM_001365792.1(DAB1):c.208-69A>G	DAB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3270766	NM_001365792.1(DAB1):c.160G>A (p.Ala54Thr)	DAB1 (A54T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2440676	NM_001365792.1(DAB1):c.122G>A (p.Arg41Gln)	DAB1 (R41Q)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 37 +1 more	GUncertain significance
Select item 1239544	NM_001365792.1(DAB1):c.68-74C>G	DAB1	Single nucleotide variant (intron variant)	not provided	GBenign

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