KLHL8[gene] and "single gene"[properties] - ClinVar

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Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3358891	NM_020803.5(KLHL8):c.2476_2477del	KLHL8	Deletion (3 prime UTR variant +1 more)	Catecholaminergic polymorphic ventricular tachycardia	GUncertain significance
Select item 3115787	NM_020803.5(KLHL8):c.1664A>G (p.Lys555Arg)	KLHL8 (K479R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2464716	NM_020803.5(KLHL8):c.1592G>A (p.Ser531Asn)	KLHL8 (S455N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2454952	NM_020803.5(KLHL8):c.1589G>A (p.Arg530Gln)	KLHL8 (R347Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2344652	NM_020803.5(KLHL8):c.1577G>A (p.Arg526Gln)	KLHL8 (R526Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3289053	NM_020803.5(KLHL8):c.1570G>A (p.Val524Ile)	KLHL8 (V524I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3115786	NM_020803.5(KLHL8):c.1397G>T (p.Gly466Val)	KLHL8 (G390V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2312946	NM_020803.5(KLHL8):c.1396G>A (p.Gly466Ser)	KLHL8 (G283S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2621425	NM_020803.5(KLHL8):c.1379A>G (p.Asn460Ser)	KLHL8 (N460S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3115785	NM_020803.5(KLHL8):c.1363T>C (p.Ser455Pro)	KLHL8 (S379P +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3115784	NM_020803.5(KLHL8):c.1274C>G (p.Thr425Ser)	KLHL8 (T242S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2605452	NM_020803.5(KLHL8):c.1273A>T (p.Thr425Ser)	KLHL8 (T242S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2301028	NM_020803.5(KLHL8):c.1120C>T (p.His374Tyr)	KLHL8 (H191Y +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2520298	NM_020803.5(KLHL8):c.1081G>T (p.Val361Leu)	KLHL8 (V285L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2302535	NM_020803.5(KLHL8):c.1041C>G (p.Phe347Leu)	KLHL8 (F347L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2538177	NM_020803.5(KLHL8):c.964T>C (p.Cys322Arg)	KLHL8 (C139R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2379603	NM_020803.5(KLHL8):c.836A>G (p.Asn279Ser)	KLHL8 (N279S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396070	NM_020803.5(KLHL8):c.821A>G (p.Gln274Arg)	KLHL8 (Q198R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515247	NM_020803.5(KLHL8):c.800T>C (p.Met267Thr)	KLHL8 (M267T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115789	NM_020803.5(KLHL8):c.700G>A (p.Ala234Thr)	KLHL8 (A234T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2227137	NM_020803.5(KLHL8):c.559A>G (p.Met187Val)	KLHL8 (M187V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2287391	NM_020803.5(KLHL8):c.346G>A (p.Asp116Asn)	KLHL8 (D116N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2203971	NM_020803.5(KLHL8):c.317C>T (p.Thr106Met)	KLHL8 (T106M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3115782	NM_020803.5(KLHL8):c.101G>T (p.Ser34Ile)	KLHL8 (S34I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2256917	NM_020803.5(KLHL8):c.8C>T (p.Ser3Leu)	KLHL8 (S3L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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Items: 25