DACH1[gene] and "single gene"[properties] - ClinVar

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Items: 39

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2271950	NM_080759.6(DACH1):c.2117A>G (p.Tyr706Cys)	DACH1 (Y558C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548969	NM_080759.6(DACH1):c.1873A>G (p.Ile625Val)	DACH1 (I477V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329947	NM_080759.6(DACH1):c.1805T>G (p.Phe602Cys)	DACH1 (F654C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 218830	NM_080759.6(DACH1):c.1722+6C>T	DACH1	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2331957	NM_080759.6(DACH1):c.1698C>G (p.Ile566Met)	DACH1 (I364M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079918	NM_080759.6(DACH1):c.1696A>G (p.Ile566Val)	DACH1 (I418V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598553	NM_080759.6(DACH1):c.1597G>A (p.Ala533Thr)	DACH1 (A331T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079917	NM_080759.6(DACH1):c.1562T>C (p.Ile521Thr)	DACH1 (I573T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3079916	NM_080759.6(DACH1):c.1492G>A (p.Val498Ile)	DACH1 (V498I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3079915	NM_080759.6(DACH1):c.1390G>A (p.Val464Met)	DACH1 (V516M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2287055	NM_080759.6(DACH1):c.1306G>T (p.Val436Phe)	DACH1 (V436F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2395320	NM_080759.6(DACH1):c.1304G>A (p.Arg435His)	DACH1 (R435H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 774219	NM_080759.6(DACH1):c.1125C>G (p.Val375=)	DACH1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2324070	NM_080759.6(DACH1):c.1012A>G (p.Ile338Val)	DACH1 (I338V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2220918	NM_080759.6(DACH1):c.958C>T (p.Pro320Ser)	DACH1 (P320S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266086	NM_080759.6(DACH1):c.886G>A (p.Val296Ile)	DACH1 (V296I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528044	NM_080759.6(DACH1):c.569T>C (p.Met190Thr)	DACH1 (M190T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1710306	NM_080759.6(DACH1):c.563G>A (p.Cys188Tyr)	DACH1 (C188Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3079923	NM_080759.6(DACH1):c.527C>A (p.Pro176Gln)	DACH1 (P176Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246114	NM_080759.6(DACH1):c.524C>T (p.Thr175Ile)	DACH1 (T175I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516550	NM_080759.6(DACH1):c.420C>G (p.Ser140Arg)	DACH1 (S140R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410234	NM_080759.6(DACH1):c.347G>C (p.Gly116Ala)	DACH1 (G116A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531291	NM_080759.6(DACH1):c.338A>C (p.Asn113Thr)	DACH1 (N113T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079921	NM_080759.6(DACH1):c.326C>T (p.Ala109Val)	DACH1 (A109V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079919	NM_080759.6(DACH1):c.322C>G (p.Leu108Val)	DACH1 (L108V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455450	NM_080759.6(DACH1):c.256G>A (p.Gly86Ser)	DACH1 (G86S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1291517	NM_080759.6(DACH1):c.220GGC[5] (p.Gly79_Gly81del)	DACH1	Microsatellite (inframe_deletion)	not provided	GBenign
Select item 218831	NM_080759.5(DACH1):c.219CGG[8](p.=)	DACH1	Deletion (no sequence alteration)	not specified	GUncertain significance
Select item 2285701	NM_080759.6(DACH1):c.191C>T (p.Ala64Val)	DACH1 (A64V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2231884	NM_080759.6(DACH1):c.170C>G (p.Pro57Arg)	DACH1 (P57R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3270793	NM_080759.6(DACH1):c.140C>T (p.Pro47Leu)	DACH1 (P47L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079914	NM_080759.6(DACH1):c.130A>G (p.Ile44Val)	DACH1 (I44V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248641	NM_080759.6(DACH1):c.107C>T (p.Ala36Val)	DACH1 (A36V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281825	NM_080759.6(DACH1):c.47C>G (p.Pro16Arg)	DACH1 (P16R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079920	NM_080759.6(DACH1):c.32C>G (p.Thr11Ser)	DACH1 (T11S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1809491	GRCh37/hg19 13q21.33(chr13:71931899-72330708)x3	DACH1	Copy number gain	not provided	GUncertain significance
Select item 1807606	GRCh37/hg19 13q21.33(chr13:72143410-72359353)x1	DACH1	Copy number loss	not provided	GUncertain significance
Select item 979377	GRCh37/hg19 13q21.33(chr13:71486446-72076934)x3	DACH1	Copy number gain	not provided	GLikely benign
Select item 685203	GRCh37/hg19 13q21.33(chr13:72104831-72679646)x1	DACH1	Copy number loss	not provided	GUncertain significance

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Items: 39