"Ambry Genetics"[submitter] AND "KLHL13"[gene] - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3115483	NM_001168302.2(KLHL13):c.1867C>G (p.Pro623Ala)	KLHL13 (P630A +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401315	NM_001168302.2(KLHL13):c.1508C>T (p.Ala503Val)	KLHL13 (A522V +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389636	NM_001168302.2(KLHL13):c.1030C>T (p.Arg344Cys)	KLHL13 (R344C +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354697	NM_001168302.2(KLHL13):c.845C>T (p.Thr282Met)	KLHL13 (T301M +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219876	NM_001168302.2(KLHL13):c.734C>G (p.Thr245Ser)	KLHL13 (T245S +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546023	NM_001168302.2(KLHL13):c.520G>T (p.Gly174Trp)	KLHL13 (G139W +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115484	NM_001168302.2(KLHL13):c.359A>G (p.Lys120Arg)	KLHL13 (K139R +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278795	NM_001168302.2(KLHL13):c.200A>C (p.Asp67Ala)	KLHL13 (D67A +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477057	NM_001168302.2(KLHL13):c.128A>G (p.Gln43Arg)	KLHL13 (Q53R +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance