RWDD3-DT[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146350	GRCh38/hg38 1p31.1-21.1(chr1:83457325-104273917)x3	LINC01708, LINC01709 +549 more	Copy number gain	See cases	GPathogenic
Select item 3177765	NM_152487.3(TLCD4):c.559G>A (p.Val187Met)	RWDD3-DT, TLCD4 +1 more (V187M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3177766	NM_152487.3(TLCD4):c.574A>G (p.Met192Val)	RWDD3-DT, TLCD4 +1 more (M192V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3177767	NM_152487.3(TLCD4):c.604G>A (p.Val202Met)	RWDD3-DT, TLCD4 +1 more (V202M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3177768	NM_152487.3(TLCD4):c.608A>T (p.Tyr203Phe)	RWDD3-DT, TLCD4 +1 more (Y203F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 152762	GRCh38/hg38 1p21.3(chr1:95230768-95286879)x1	LOC129930992, LOC129930993 +3 more	Copy number loss	See cases	GUncertain significance
Select item 3177769	NM_001199691.1(TLCD4-RWDD3):c.507G>T (p.Leu169Phe)	RWDD3-DT, TLCD4-RWDD3 (L169F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177770	NM_001199691.1(TLCD4-RWDD3):c.554C>T (p.Pro185Leu)	RWDD3-DT, TLCD4-RWDD3 (P185L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

ClinVar