"Ambry Genetics"[submitter] AND "LOC129929254"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2547249	NM_014851.4(KLHL21):c.673C>T (p.Arg225Cys)	KLHL21, LOC129929254 (R225C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115546	NM_014851.4(KLHL21):c.655C>A (p.Gln219Lys)	KLHL21, LOC129929254 (Q219K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527712	NM_014851.4(KLHL21):c.653C>T (p.Pro218Leu)	KLHL21, LOC129929254 (P218L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115545	NM_014851.4(KLHL21):c.646C>G (p.His216Asp)	KLHL21, LOC129929254 (H216D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115544	NM_014851.4(KLHL21):c.620G>T (p.Arg207Leu)	KLHL21, LOC129929254 (R207L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491287	NM_014851.4(KLHL21):c.562G>A (p.Asp188Asn)	KLHL21, LOC129929254 (D188N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225911	NM_014851.4(KLHL21):c.557G>A (p.Arg186Gln)	KLHL21, LOC129929254 (R186Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115543	NM_014851.4(KLHL21):c.553C>A (p.Leu185Met)	KLHL21, LOC129929254 (L185M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

ClinVar