Related gene-specific medical variations for Gene (Select 26061) - ClinVar - NCBI

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Items: 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2507522	NM_012260.4(HACL1):c.8A>G (p.Asp3Gly)	BTD, HACL1 (D3G)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2467017	NM_012260.4(HACL1):c.52A>G (p.Lys18Glu)	BTD, HACL1 (K18E)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2395183	NM_012260.4(HACL1):c.12T>G (p.Ser4Arg)	BTD, HACL1 (S4R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2240435	NM_012260.4(HACL1):c.15C>G (p.Asn5Lys)	BTD, HACL1 (N5K)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 1266847	NM_012260.4(HACL1):c.-73T>C	HACL1, BTD	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign

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