"PreventionGenetics, part of Exact Sciences"[submitter] AND "LOC112694 - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3040743	NM_001243177.4(ALDOA):c.30C>T (p.Ser10=)	ALDOA, LOC112694756	Single nucleotide variant (synonymous variant +1 more)	ALDOA-related disorder	GLikely benign
Select item 2628565	NM_001243177.4(ALDOA):c.64T>C (p.Phe22Leu)	ALDOA, LOC112694756 (F22L)	Single nucleotide variant (missense variant +1 more)	ALDOA-related disorder	GUncertain significance
Select item 503727	NM_001365304.2(LOC112694756):c.*621+4C>T	ALDOA, LOC112694756	Single nucleotide variant (intron variant)	ALDOA-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 382578	NM_001243177.4(ALDOA):c.411A>G (p.Thr137=)	ALDOA, LOC112694756	Single nucleotide variant (3 prime UTR variant +1 more)	ALDOA-related disorder +2 more	GBenign/Likely benign
Select item 1577398	NM_001243177.4(ALDOA):c.668A>G (p.Asn223Ser)	ALDOA, LOC112694756 (N169S +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	HNSHA due to aldolase A deficiency +1 more	GConflicting classifications of pathogenicity
Select item 1399594	NM_001243177.4(ALDOA):c.720C>T (p.Ile240=)	ALDOA, LOC112694756	Single nucleotide variant (3 prime UTR variant +1 more)	ALDOA-related disorder +1 more	GLikely benign
Select item 381165	NM_001243177.4(ALDOA):c.973C>T (p.Leu325=)	ALDOA, LOC112694756	Single nucleotide variant (3 prime UTR variant +1 more)	ALDOA-related disorder +2 more	GBenign/Likely benign
Select item 559007	NM_001243177.4(ALDOA):c.996G>C (p.Glu332Asp)	ALDOA, LOC112694756 (E332D +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	ALDOA-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 390408	NM_001243177.4(ALDOA):c.1032C>T (p.Cys344=)	ALDOA, LOC112694756	Single nucleotide variant (3 prime UTR variant +1 more)	not specified +1 more	GLikely benign
Select item 318836	NM_001243177.4(ALDOA):c.1107C>T (p.Gly369=)	ALDOA, LOC112694756	Single nucleotide variant (3 prime UTR variant +1 more)	ALDOA-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 318840	NM_001243177.4(ALDOA):c.1201G>A (p.Gly401Ser)	ALDOA, LOC112694756 (G347S +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	HNSHA due to aldolase A deficiency +2 more	GConflicting classifications of pathogenicity
Select item 2914036	NM_001243177.4(ALDOA):c.1248C>T (p.His416=)	ALDOA, LOC112694756	Single nucleotide variant (3 prime UTR variant +1 more)	ALDOA-related disorder +1 more	GLikely benign