"Mayo Clinic Laboratories, Mayo Clinic"[submitter] AND "LOC112694756"[ - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2683353	NM_001243177.4(ALDOA):c.202A>G (p.Lys68Glu)	ALDOA, LOC112694756 (K14E +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 318826	NM_001243177.4(ALDOA):c.226C>T (p.Arg76Cys)	ALDOA, LOC112694756 (R22C +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	HNSHA due to aldolase A deficiency +1 more	GUncertain significance
Select item 1679477	NM_001243177.4(ALDOA):c.322G>A (p.Glu108Lys)	ALDOA, LOC112694756 (E108K +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	HNSHA due to aldolase A deficiency +1 more	GUncertain significance
Select item 3380381	NM_001243177.4(ALDOA):c.367C>T (p.Arg123Cys)	ALDOA, LOC112694756 (R123C +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 382578	NM_001243177.4(ALDOA):c.411A>G (p.Thr137=)	ALDOA, LOC112694756	Single nucleotide variant (3 prime UTR variant +1 more)	HNSHA due to aldolase A deficiency +1 more	GBenign/Likely benign
Select item 3380382	NM_001243177.4(ALDOA):c.512C>G (p.Ala171Gly)	ALDOA, LOC112694756 (A117G +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1163978	NM_001243177.4(ALDOA):c.679C>T (p.Arg227Cys)	ALDOA, LOC112694756 (R173C +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	HNSHA due to aldolase A deficiency +1 more	GUncertain significance
Select item 1693660	NM_001243177.4(ALDOA):c.703-24_703-21dup	ALDOA, LOC112694756	Duplication (intron variant)	not provided	GUncertain significance
Select item 617972	NM_001243177.4(ALDOA):c.898C>T (p.His300Tyr)	ALDOA, LOC112694756 (H246Y +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	HNSHA due to aldolase A deficiency +1 more	GUncertain significance
Select item 318834	NM_001243177.4(ALDOA):c.910G>A (p.Ala304Thr)	ALDOA, LOC112694756 (A250T +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 1524982	NM_001243177.4(ALDOA):c.926C>T (p.Thr309Ile)	ALDOA, LOC112694756 (T255I +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	HNSHA due to aldolase A deficiency +1 more	GUncertain significance
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)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2683355	NM_001243177.4(ALDOA):c.1111AAG[1] (p.Lys372del)	ALDOA, LOC112694756 (K318del +1 more)	Microsatellite (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1163979	NM_001243177.4(ALDOA):c.1129G>T (p.Ala377Ser)	ALDOA, LOC112694756 (A323S +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	HNSHA due to aldolase A deficiency +1 more	GUncertain significance
Select item 379944	NM_001243177.4(ALDOA):c.1161+17G>T	ALDOA, LOC112694756	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1163980	NM_001243177.4(ALDOA):c.1162-4T>C	ALDOA, LOC112694756	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3380383	NM_001243177.4(ALDOA):c.1169G>A (p.Ser390Asn)	ALDOA, LOC112694756 (S336N +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 318839	NM_001243177.4(ALDOA):c.1200C>T (p.Ser400=)	ALDOA, LOC112694756	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +2 more	GBenign/Likely benign
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 +1 more	GConflicting classifications of pathogenicity