"Ambry Genetics"[submitter] AND "WDR48"[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2466109	NM_020839.4(WDR48):c.112C>G (p.Leu38Val)	WDR48 (L38V)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2456762	NM_020839.4(WDR48):c.128A>G (p.Asn43Ser)	WDR48 (N43S)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2303801	NM_020839.4(WDR48):c.461C>T (p.Ala154Val)	WDR48 (A72V +4 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2334121	NM_020839.4(WDR48):c.668C>T (p.Thr223Met)	WDR48 (T141M +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2462118	NM_020839.4(WDR48):c.923C>T (p.Pro308Leu)	WDR48 (P346L +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2333671	NM_020839.4(WDR48):c.1028C>G (p.Thr343Arg)	WDR48 (T286R +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2299713	NM_020839.4(WDR48):c.1049G>C (p.Cys350Ser)	WDR48 (C280S +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2232653	NM_020839.4(WDR48):c.2006C>T (p.Thr669Ile)	WDR48 (T587I +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance