"PreventionGenetics, part of Exact Sciences"[submitter] AND "HACL1"[ge - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3038227	NM_012260.4(HACL1):c.*8C>T	HACL1	Single nucleotide variant (3 prime UTR variant +1 more)	HACL1-related disorder	GLikely benign
Select item 2653598	NM_012260.4(HACL1):c.1614C>T (p.Leu538=)	HACL1	Single nucleotide variant (synonymous variant +1 more)	HACL1-related disorder +1 more	GLikely benign
Select item 3051661	NM_012260.4(HACL1):c.1341A>G (p.Gln447=)	HACL1	Single nucleotide variant (synonymous variant +1 more)	HACL1-related disorder	GLikely benign
Select item 3055290	NM_012260.4(HACL1):c.1312G>T (p.Val438Leu)	HACL1 (V356L +3 more)	Single nucleotide variant (missense variant +1 more)	HACL1-related disorder	GLikely benign
Select item 3033119	NM_012260.4(HACL1):c.1308T>G (p.Ala436=)	HACL1	Single nucleotide variant (synonymous variant +1 more)	HACL1-related disorder	GLikely benign
Select item 3057081	NM_012260.4(HACL1):c.1119G>A (p.Leu373=)	HACL1	Single nucleotide variant (synonymous variant +1 more)	HACL1-related disorder	GBenign
Select item 3055705	NM_012260.4(HACL1):c.994-4dup	HACL1	Duplication (intron variant)	HACL1-related disorder	GBenign
Select item 3052625	NM_012260.4(HACL1):c.668-3T>C	HACL1	Single nucleotide variant (intron variant)	HACL1-related disorder	GLikely benign
Select item 3056898	NM_012260.4(HACL1):c.451A>T (p.Ile151Phe)	HACL1 (I124F +1 more)	Single nucleotide variant (missense variant +2 more)	HACL1-related disorder	GBenign
Select item 3058276	NM_012260.4(HACL1):c.382-6A>G	HACL1	Single nucleotide variant (intron variant)	HACL1-related disorder	GLikely benign
Select item 3048891	NM_012260.4(HACL1):c.215A>T (p.Tyr72Phe)	HACL1 (Y72F)	Single nucleotide variant (missense variant +1 more)	HACL1-related disorder	GLikely benign