C0016751[trait identifier] AND "Counsyl"[submitter] - ClinVar

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Items: 38

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 550776	NM_000035.4(ALDOB):c.1095G>C (p.Ter365Tyr)	ALDOB	Single nucleotide variant (stop lost)	ALDOB-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 550867	NM_000035.4(ALDOB):c.1063C>T (p.Gln355Ter)	ALDOB (Q355*)	Single nucleotide variant (nonsense)	Hereditary fructosuria	GUncertain significance
Select item 30980	NM_000035.4(ALDOB):c.1027T>C (p.Tyr343His)	ALDOB (Y343H)	Single nucleotide variant (missense variant)	Hereditary fructosuria +1 more	GUncertain significance
Select item 188739	NM_000035.4(ALDOB):c.1013C>T (p.Ala338Val)	ALDOB (A338V)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 552618	NM_000035.4(ALDOB):c.964G>T (p.Glu322Ter)	ALDOB (E322*)	Single nucleotide variant (nonsense)	Hereditary fructosuria	GPathogenic/Likely pathogenic
Select item 555807	NM_000035.4(ALDOB):c.940dup (p.Trp314fs)	ALDOB (W314fs)	Duplication (frameshift variant)	Hereditary fructosuria	GLikely pathogenic
Select item 551627	NM_000035.4(ALDOB):c.941G>A (p.Trp314Ter)	ALDOB (W314*)	Single nucleotide variant (nonsense)	Hereditary fructosuria	GLikely pathogenic
Select item 371260	NM_000035.4(ALDOB):c.888G>A (p.Trp296Ter)	ALDOB (W296*)	Single nucleotide variant (nonsense)	Hereditary fructosuria	GPathogenic/Likely pathogenic
Select item 553862	NM_000035.4(ALDOB):c.812del (p.Leu271fs)	ALDOB (L271fs)	Deletion (frameshift variant)	Hereditary fructosuria	GLikely pathogenic
Select item 558366	NM_000035.4(ALDOB):c.806_808del (p.Cys269del)	ALDOB (C269del)	Deletion (inframe_deletion)	Hereditary fructosuria	GUncertain significance
Select item 432193	NM_000035.4(ALDOB):c.800-2A>C	ALDOB	Single nucleotide variant (splice acceptor variant)	Hereditary fructosuria +1 more	GLikely pathogenic
Select item 384999	NM_000035.4(ALDOB):c.799+11C>T	ALDOB	Single nucleotide variant (intron variant)	Hereditary fructosuria +1 more	GBenign/Likely benign
Select item 549988	NM_000035.4(ALDOB):c.712dup (p.His238fs)	ALDOB (H238fs)	Duplication (frameshift variant)	Hereditary fructosuria	GLikely pathogenic
Select item 364309	NM_000035.4(ALDOB):c.698T>A (p.Met233Lys)	ALDOB (M233K)	Single nucleotide variant (missense variant)	Hereditary fructosuria	GUncertain significance
Select item 550941	NM_000035.4(ALDOB):c.686T>C (p.Leu229Pro)	ALDOB (L229P)	Single nucleotide variant (missense variant)	Hereditary fructosuria	GConflicting classifications of pathogenicity
Select item 553075	NM_000035.4(ALDOB):c.664G>T (p.Val222Phe)	ALDOB (V222F)	Single nucleotide variant (missense variant)	Hereditary fructosuria +1 more	GConflicting classifications of pathogenicity
Select item 188837	NM_000035.4(ALDOB):c.625-2A>G	ALDOB	Single nucleotide variant (splice acceptor variant)	Hereditary fructosuria	GPathogenic/Likely pathogenic
Select item 188782	NM_000035.4(ALDOB):c.612T>A (p.Tyr204Ter)	ALDOB (Y204*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 371208	NM_000035.4(ALDOB):c.546del (p.Leu183fs)	ALDOB (L183fs)	Deletion (frameshift variant)	Hereditary fructosuria	GLikely pathogenic
Select item 555545	NM_000035.4(ALDOB):c.522C>G (p.Tyr174Ter)	ALDOB (Y174*)	Single nucleotide variant (nonsense)	Hereditary fructosuria	GPathogenic
Select item 370966	NM_000035.4(ALDOB):c.444G>A (p.Trp148Ter)	ALDOB (W148*)	Single nucleotide variant (nonsense)	Hereditary fructosuria	GPathogenic/Likely pathogenic
Select item 371627	NM_000035.4(ALDOB):c.420del (p.Asp141fs)	ALDOB (D141fs)	Deletion (frameshift variant)	Hereditary fructosuria	GLikely pathogenic
Select item 553732	NM_000035.4(ALDOB):c.380-1G>A	ALDOB	Single nucleotide variant (splice acceptor variant)	Hereditary fructosuria	GLikely pathogenic
Select item 556271	NM_000035.4(ALDOB):c.380-2A>G	ALDOB	Single nucleotide variant (splice acceptor variant)	Hereditary fructosuria	GLikely pathogenic
Select item 371023	NM_000035.4(ALDOB):c.379+1G>A	ALDOB	Single nucleotide variant (splice donor variant)	Hereditary fructosuria	GPathogenic/Likely pathogenic
Select item 364314	NM_000035.4(ALDOB):c.375T>C (p.Ile125=)	ALDOB	Single nucleotide variant (synonymous variant)	Hereditary fructosuria	GConflicting classifications of pathogenicity
Select item 188861	NM_000035.4(ALDOB):c.360_363del (p.Asn120fs)	ALDOB (N120fs)	Microsatellite (frameshift variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 558033	NM_000035.4(ALDOB):c.325-1G>A	ALDOB	Single nucleotide variant (splice acceptor variant)	Hereditary fructosuria	GLikely pathogenic
Select item 370293	NM_000035.4(ALDOB):c.324+2T>A	ALDOB	Single nucleotide variant (splice donor variant)	Hereditary fructosuria	GPathogenic/Likely pathogenic
Select item 218380	NM_000035.4(ALDOB):c.324+1G>A	ALDOB	Single nucleotide variant (splice donor variant)	Hereditary fructosuria	GPathogenic
Select item 188779	NM_000035.4(ALDOB):c.324G>A (p.Lys108=)	ALDOB	Single nucleotide variant (synonymous variant)	Hereditary fructosuria	GPathogenic/Likely pathogenic
Select item 550187	NM_000035.4(ALDOB):c.287del (p.Asn96fs)	ALDOB (N96fs)	Deletion (frameshift variant)	Hereditary fructosuria	GLikely pathogenic
Select item 551199	NM_000035.4(ALDOB):c.221T>C (p.Ile74Thr)	ALDOB (I74T)	Single nucleotide variant (missense variant)	Hereditary fructosuria	GUncertain significance
Select item 472	NM_000035.4(ALDOB):c.178C>T (p.Arg60Ter)	ALDOB (R60*)	Single nucleotide variant (nonsense)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 30979	NM_000035.4(ALDOB):c.136A>T (p.Arg46Trp)	ALDOB (R46W)	Single nucleotide variant (missense variant)	ALDOB-related disorder +3 more	GUncertain significance
Select item 188974	NM_000035.4(ALDOB):c.113-1_115del	ALDOB	Deletion (splice acceptor variant)	Hereditary fructosuria	GPathogenic/Likely pathogenic
Select item 370497	NM_000035.4(ALDOB):c.112+1del	ALDOB	Deletion (splice donor variant)	Hereditary fructosuria	GLikely pathogenic
Select item 471	NM_000035.4(ALDOB):c.10C>T (p.Arg4Ter)	ALDOB (R4*)	Single nucleotide variant (nonsense)	Hereditary fructosuria	GPathogenic/Likely pathogenic

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Items: 38