Related gene-specific medical variations for Gene (Select 54663) - ClinVar - NCBI

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Links from Gene

Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3332935	NM_001369450.1(WDR74):c.4G>A (p.Ala2Thr)	LOC130005871, WDR74 (A2T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3190235	NM_001369450.1(WDR74):c.967G>C (p.Asp323His)	STX5-DT, WDR74 (D188H +2 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 3190233	NM_001369450.1(WDR74):c.7G>A (p.Ala3Thr)	LOC130005871, WDR74 (A3T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2618047	NM_001369450.1(WDR74):c.904C>T (p.Arg302Trp)	STX5-DT, WDR74 (R167W +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2600588	NM_001369450.1(WDR74):c.779G>A (p.Arg260His)	STX5-DT, WDR74 (R274H +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2549473	NM_001369450.1(WDR74):c.1084G>C (p.Gly362Arg)	STX5-DT, WDR74 (G227R +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2546104	NM_001369450.1(WDR74):c.817C>T (p.Arg273Cys)	STX5-DT, WDR74 (R138C +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2528948	NM_001369450.1(WDR74):c.13G>A (p.Ala5Thr)	LOC130005871, WDR74 (A5T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2386990	NM_001369450.1(WDR74):c.140C>T (p.Ala47Val)	LOC130005870, WDR74 (A47V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2316474	NM_001369450.1(WDR74):c.778C>T (p.Arg260Cys)	STX5-DT, WDR74 (R274C +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2312204	NM_001369450.1(WDR74):c.285G>C (p.Gln95His)	LOC130005869, WDR74 (Q95H)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2282650	NM_001369450.1(WDR74):c.845C>G (p.Pro282Arg)	STX5-DT, WDR74 (P147R +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2207546	NM_001369450.1(WDR74):c.907G>A (p.Gly303Ser)	STX5-DT, WDR74 (G303S +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 780999	NM_001369450.1(WDR74):c.21C>G (p.Arg7=)	LOC130005871, WDR74	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 780998	NM_001369450.1(WDR74):c.65-7C>T	LOC130005871, WDR74	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 780997	NM_001369450.1(WDR74):c.1097C>T (p.Pro366Leu)	STX5-DT, WDR74 (P366L +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign