"Ambry Genetics"[submitter] AND "KLHL6"[gene] - ClinVar

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Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3289048	NM_130446.4(KLHL6):c.1856T>C (p.Val619Ala)	KLHL6 (V619A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3289047	NM_130446.4(KLHL6):c.1832T>G (p.Ile611Ser)	KLHL6 (I611S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115778	NM_130446.4(KLHL6):c.1775T>G (p.Leu592Arg)	KLHL6 (L592R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3289044	NM_130446.4(KLHL6):c.1742C>T (p.Pro581Leu)	KLHL6 (P581L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2565338	NM_130446.4(KLHL6):c.1570G>T (p.Ala524Ser)	KLHL6 (A524S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400821	NM_130446.4(KLHL6):c.1433A>G (p.Asn478Ser)	KLHL6 (N478S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2617005	NM_130446.4(KLHL6):c.1315G>C (p.Glu439Gln)	KLHL6 (E439Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3289045	NM_130446.4(KLHL6):c.1312G>A (p.Val438Met)	KLHL6 (V438M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115777	NM_130446.4(KLHL6):c.1232G>T (p.Arg411Leu)	KLHL6 (R411L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3289050	NM_130446.4(KLHL6):c.1166A>G (p.His389Arg)	KLHL6 (H389R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478058	NM_130446.4(KLHL6):c.1087G>A (p.Glu363Lys)	KLHL6 (E363K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331096	NM_130446.4(KLHL6):c.1061C>T (p.Pro354Leu)	KLHL6 (P354L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300161	NM_130446.4(KLHL6):c.922C>A (p.Arg308Ser)	KLHL6 (R308S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608199	NM_130446.4(KLHL6):c.887T>G (p.Met296Arg)	KLHL6, LOC126806888 (M296R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3289051	NM_130446.4(KLHL6):c.886A>G (p.Met296Val)	KLHL6, LOC126806888 (M296V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115780	NM_130446.4(KLHL6):c.791C>T (p.Pro264Leu)	KLHL6, LOC126806888 (P264L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595762	NM_130446.4(KLHL6):c.775G>A (p.Glu259Lys)	KLHL6, LOC126806888 (E259K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488851	NM_130446.4(KLHL6):c.730C>T (p.Arg244Trp)	KLHL6, LOC126806888 (R244W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115779	NM_130446.4(KLHL6):c.709G>C (p.Glu237Gln)	KLHL6, LOC126806888 (E237Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473058	NM_130446.4(KLHL6):c.671G>A (p.Ser224Asn)	KLHL6, LOC126806888 (S224N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3289046	NM_130446.4(KLHL6):c.569A>C (p.Lys190Thr)	KLHL6, LOC126806888 (K190T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383393	NM_130446.4(KLHL6):c.475G>C (p.Asp159His)	KLHL6, LOC126806888 (D159H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486504	NM_130446.4(KLHL6):c.73G>C (p.Ala25Pro)	KLHL6 (A25P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553686	NM_130446.4(KLHL6):c.25G>A (p.Ala9Thr)	KLHL6 (A9T)	Single nucleotide variant (missense variant)	not specified	GLikely benign

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Items: 24