Related gene-specific medical variations for Gene (Select 57539) - ClinVar

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Links from Gene

Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3065383	NM_020779.4(WDR35):c.3281A>G (p.Tyr1094Cys)	WDR35 (Y1094C +1 more)	Single nucleotide variant (missense variant)	Cranioectodermal dysplasia 2	GUncertain significance
Select item 2925510	NM_020779.4(WDR35):c.2568C>T (p.Val856=)	LOC129933186, WDR35	Single nucleotide variant (synonymous variant)	Cranioectodermal dysplasia 2 +1 more	GLikely benign
Select item 2438573	NM_020779.4(WDR35):c.1543A>G (p.Ile515Val)	WDR35 (I515V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2438572	NM_020779.4(WDR35):c.3070C>G (p.Leu1024Val)	WDR35 (L1024V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2438571	NM_020779.4(WDR35):c.437G>C (p.Gly146Ala)	WDR35 (G146A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2113061	NM_020779.4(WDR35):c.2559A>T (p.Gln853His)	LOC129933186, WDR35 (Q853H +1 more)	Single nucleotide variant (missense variant)	Short-rib thoracic dysplasia 7 with or without polydactyly +1 more	GUncertain significance
Select item 2074139	NM_020779.4(WDR35):c.2551A>G (p.Ile851Val)	LOC129933186, WDR35 (I862V +1 more)	Single nucleotide variant (missense variant)	Cranioectodermal dysplasia 2 +1 more	GUncertain significance
Select item 1696886	NM_020779.4(WDR35):c.2555C>T (p.Ala852Val)	LOC129933186, WDR35 (A852V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1385280	NM_020779.4(WDR35):c.2575G>C (p.Gly859Arg)	LOC129933186, WDR35 (G859R +1 more)	Single nucleotide variant (missense variant)	Cranioectodermal dysplasia 2 +1 more	GUncertain significance
Select item 1330833	NM_020779.4(WDR35):c.1854T>G (p.Ile618Met)	WDR35 (I618M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1330787	NM_020779.4(WDR35):c.836A>G (p.Gln279Arg)	WDR35 (Q279R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1325357	NM_020779.4(WDR35):c.1362del (p.Asn455fs)	WDR35 (N466fs +1 more)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 1323764	NM_020779.4(WDR35):c.570+1G>C	WDR35	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 994285	NM_020779.4(WDR35):c.529A>G (p.Asn177Asp)	WDR35 (N177D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 872722	NM_020779.4(WDR35):c.707G>A (p.Cys236Tyr)	WDR35 (C236Y)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 808672	NM_020779.4(WDR35):c.1542del (p.Ile515fs)	WDR35 (I515fs +1 more)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 774100	NM_020779.4(WDR35):c.2573T>C (p.Val858Ala)	LOC129933186, WDR35 (V869A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 591487	NM_020779.4(WDR35):c.2024C>T (p.Ala675Val)	WDR35 (A686V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 591108	NM_020779.4(WDR35):c.2910C>A (p.Tyr970Ter)	WDR35 (Y981* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 538842	NM_020779.4(WDR35):c.2580G>A (p.Met860Ile)	LOC129933186, WDR35 (M871I +1 more)	Single nucleotide variant (missense variant)	Cranioectodermal dysplasia 2 +1 more	GUncertain significance
Select item 440415	NM_020779.4(WDR35):c.1470+131T>A	WDR35	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 93463	NM_020779.4(WDR35):c.2566G>T (p.Val856Phe)	LOC129933186, WDR35 (V867F +1 more)	Single nucleotide variant (missense variant)	Cranioectodermal dysplasia 2 +3 more	GBenign

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Links from Gene

Items: 22