KLHDC3[gene] and "single gene"[properties] - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2547687	NM_057161.4(KLHDC3):c.8G>A (p.Arg3Gln)	KLHDC3 (R3Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3288849	NM_057161.4(KLHDC3):c.64G>A (p.Val22Ile)	KLHDC3 (V22I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2614212	NM_057161.4(KLHDC3):c.124C>T (p.Arg42Cys)	KLHDC3 (R42C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2549389	NM_057161.4(KLHDC3):c.130A>G (p.Ile44Val)	KLHDC3 (I44V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3115370	NM_057161.4(KLHDC3):c.184G>A (p.Val62Met)	KLHDC3 (V62M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2321577	NM_057161.4(KLHDC3):c.187A>C (p.Lys63Gln)	KLHDC3 (K63Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3115371	NM_057161.4(KLHDC3):c.193G>A (p.Ala65Thr)	KLHDC3 (A65T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2656571	NM_057161.4(KLHDC3):c.258C>T (p.Asp86=)	KLHDC3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3115372	NM_057161.4(KLHDC3):c.298G>T (p.Gly100Trp)	KLHDC3 (G100W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3115373	NM_057161.4(KLHDC3):c.335C>T (p.Thr112Met)	KLHDC3 (T112M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3288852	NM_057161.4(KLHDC3):c.509T>C (p.Ile170Thr)	KLHDC3 (I170T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3288850	NM_057161.4(KLHDC3):c.953G>A (p.Gly318Glu)	KLHDC3 (G318E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2301341	NM_057161.4(KLHDC3):c.1040T>C (p.Ile347Thr)	KLHDC3 (I347T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2457781	NM_057161.4(KLHDC3):c.1115A>G (p.Asn372Ser)	KLHDC3 (N372S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance