"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "WDR26"[gen - ClinVar

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Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1012763	NM_001379403.1(WDR26):c.1963T>G (p.Leu655Val)	WDR26 (L539V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1711239	NM_001379403.1(WDR26):c.1916G>T (p.Arg639Leu)	WDR26 (R523L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 714797	NM_001379403.1(WDR26):c.1635T>C (p.His545=)	WDR26	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 2498445	NM_001379403.1(WDR26):c.1630T>A (p.Ser544Thr)	WDR26 (S428T +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1879111	NM_001379403.1(WDR26):c.1600-3T>C	WDR26	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 806366	NM_001379403.1(WDR26):c.1544A>C (p.Tyr515Ser)	WDR26 (Y399S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2226793	NM_001379403.1(WDR26):c.1457C>T (p.Pro486Leu)	WDR26 (P370L +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3027209	NM_001379403.1(WDR26):c.1354dup (p.Thr452fs)	WDR26 (T336fs +2 more)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 1335015	NM_001379403.1(WDR26):c.1271A>G (p.Asp424Gly)	WDR26 (D308G +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1012764	NM_001379403.1(WDR26):c.736CTC[1] (p.Leu247del)	WDR26 (L147del +1 more)	Microsatellite (inframe_deletion)	not provided	GLikely pathogenic
Select item 1694545	NM_001379403.1(WDR26):c.604T>G (p.Ser202Ala)	WDR26 (S102A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2639930	NM_001379403.1(WDR26):c.603C>T (p.Ala201=)	WDR26	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1711240	NM_001379403.1(WDR26):c.575T>C (p.Val192Ala)	WDR26 (V192A +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 774589	NM_001379403.1(WDR26):c.570C>T (p.Ala190=)	WDR26	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2639931	NM_001379403.1(WDR26):c.513C>T (p.Ser171=)	WDR26	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 992722	NM_001379403.1(WDR26):c.494C>T (p.Ser165Phe)	WDR26 (S165F +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2639932	NM_001379403.1(WDR26):c.339CGG[5] (p.Gly125_Gln126insGly)	WDR26	Microsatellite (inframe_insertion)	not provided	GLikely benign
Select item 2428763	NM_001379403.1(WDR26):c.318AGG[5] (p.Gly125del)	WDR26 (G125del +1 more)	Microsatellite (inframe_deletion)	WDR26-related condition +2 more	GBenign
Select item 2498446	NM_001379403.1(WDR26):c.262C>T (p.His88Tyr)	WDR26 (H88Y)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2639934	NM_001379403.1(WDR26):c.178TCC[11] (p.Ser67_Val68insSerSerSer)	WDR26	Microsatellite (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2639933	NM_001379403.1(WDR26):c.178TCC[10] (p.Ser67_Val68insSerSer)	WDR26	Microsatellite (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2639935	NM_001379403.1(WDR26):c.178TCC[6] (p.Ser66_Ser67del)	WDR26	Microsatellite (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1176223	NM_001379403.1(WDR26):c.180C>G (p.Ser60=)	WDR26	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2639936	NM_001379403.1(WDR26):c.140G>A (p.Gly47Asp)	WDR26 (G47D)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 3026185	NM_001379403.1(WDR26):c.128G>A (p.Gly43Glu)	WDR26 (G43E)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2639937	NM_001379403.1(WDR26):c.54G>A (p.Ser18=)	WDR26	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1701125	NM_001379403.1(WDR26):c.-2C>T	WDR26	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 1879112	NM_001322304.2(CNIH3):c.-129C>G	CNIH3, WDR26 (Q30E)	Single nucleotide variant (missense variant +2 more)	not provided	GBenign
Select item 2639938	NM_001322303.2(CNIH3):c.99+19102T>C	CNIH3, WDR26	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign

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Items: 29