Related gene-specific medical variations for Gene (Select 7474) - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3361420	NM_003392.7(WNT5A):c.491G>C (p.Cys164Ser)	WNT5A (C149S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2584652	NM_003392.7(WNT5A):c.157A>T (p.Asn53Tyr)	WNT5A (N38Y +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant Robinow syndrome 1	GUncertain significance
Select item 2438613	NM_003392.7(WNT5A):c.890A>G (p.Gln297Arg)	WNT5A (Q282R +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant Robinow syndrome 1	GUncertain significance
Select item 1279233	NC_000003.12:g.55487689C>A	WNT5A, WNT5A-AS1	Single nucleotide variant (genic upstream transcript variant)	not provided	GBenign
Select item 1262259	NC_000003.12:g.55487931dup	WNT5A, WNT5A-AS1	Duplication (genic upstream transcript variant)	not provided	GBenign
Select item 1224446	NM_003392.7(WNT5A):c.685A>G (p.Thr229Ala)	WNT5A (T229A +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1187730	NC_000003.12:g.55487694C>A	WNT5A, WNT5A-AS1	Single nucleotide variant (genic upstream transcript variant)	not provided	GLikely benign
Select item 1183525	NC_000003.12:g.55487693G>A	WNT5A, WNT5A-AS1	Single nucleotide variant (genic upstream transcript variant)	not provided	GLikely benign
Select item 1065560	NM_003392.7(WNT5A):c.206G>T (p.Cys69Phe)	WNT5A (C54F +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant Robinow syndrome 1	GPathogenic