"Ambry Genetics"[submitter] AND "LOC126805599"[gene] - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2204925	NM_014851.4(KLHL21):c.1384G>A (p.Ala462Thr)	KLHL21, LOC126805599 (A462T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3288925	NM_014851.4(KLHL21):c.1364A>G (p.Gln455Arg)	KLHL21, LOC126805599 (Q455R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512198	NM_014851.4(KLHL21):c.1298A>G (p.Lys433Arg)	KLHL21, LOC126805599 (K433R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544209	NM_014851.4(KLHL21):c.1232C>T (p.Pro411Leu)	KLHL21, LOC126805599 (P411L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296645	NM_014851.4(KLHL21):c.1190A>G (p.His397Arg)	KLHL21, LOC126805599 (H397R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115538	NM_014851.4(KLHL21):c.1183T>A (p.Tyr395Asn)	KLHL21, LOC126805599 (Y395N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115537	NM_014851.4(KLHL21):c.1168G>A (p.Asp390Asn)	KLHL21, LOC126805599 (D390N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115536	NM_014851.4(KLHL21):c.1156G>A (p.Val386Met)	KLHL21, LOC126805599 (V386M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322496	NM_014851.4(KLHL21):c.1074C>G (p.Ser358Arg)	KLHL21, LOC126805599 (S358R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225393	NM_014851.4(KLHL21):c.1054G>A (p.Val352Met)	KLHL21, LOC126805599 (V352M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115535	NM_014851.4(KLHL21):c.1046A>T (p.Tyr349Phe)	KLHL21, LOC126805599 (Y349F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526766	NM_014851.4(KLHL21):c.1036T>A (p.Ser346Thr)	KLHL21, LOC126805599 (S346T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance