C0016751[trait identifier] AND "Baylor Genetics"[submitter] - ClinVar

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Items: 43

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 1065872	NM_000035.4(ALDOB):c.1000-1_1006delinsTG	ALDOB	Indel (splice acceptor variant)	Hereditary fructosuria	GPathogenic
Select item 469	NM_000035.4(ALDOB):c.1005C>G (p.Asn335Lys)	ALDOB (N335K)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
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 218381	NM_000035.4(ALDOB):c.865del (p.Leu289fs)	ALDOB (L289fs)	Deletion (frameshift variant)	Hereditary fructosuria +1 more	GPathogenic
Select item 2675494	NM_000035.4(ALDOB):c.800-2A>G	ALDOB	Single nucleotide variant (splice acceptor variant)	Hereditary fructosuria	GLikely pathogenic
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 2675545	NM_000035.4(ALDOB):c.799+2T>C	ALDOB	Single nucleotide variant (splice donor variant)	Hereditary fructosuria	GLikely pathogenic
Select item 1065871	NM_000035.4(ALDOB):c.761dup (p.Thr255fs)	ALDOB (T255fs)	Duplication (frameshift variant)	Hereditary fructosuria	GPathogenic
Select item 2675487	NM_000035.4(ALDOB):c.742C>T (p.Gln248Ter)	ALDOB (Q248*)	Single nucleotide variant (nonsense)	Hereditary fructosuria	GPathogenic/Likely pathogenic
Select item 3241390	NM_000035.4(ALDOB):c.732T>A (p.Tyr244Ter)	ALDOB (Y244*)	Single nucleotide variant (nonsense)	Hereditary fructosuria	GLikely pathogenic
Select item 939513	NM_000035.4(ALDOB):c.673del (p.Glu225fs)	ALDOB (E225fs)	Deletion (frameshift variant)	Hereditary fructosuria	GPathogenic/Likely pathogenic
Select item 2675446	NM_000035.4(ALDOB):c.541-277_651delinsATGGGTT	ALDOB	Indel (splice acceptor variant +1 more)	Hereditary fructosuria	GLikely pathogenic
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 2675507	NM_000035.4(ALDOB):c.624+1G>A	ALDOB	Single nucleotide variant (splice donor variant)	Hereditary fructosuria	GLikely pathogenic
Select item 632627	NM_000035.4(ALDOB):c.612T>G (p.Tyr204Ter)	ALDOB (Y204*)	Single nucleotide variant (nonsense)	Hereditary fructosuria	GPathogenic
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 1069392	NM_000035.4(ALDOB):c.607C>T (p.Gln203Ter)	ALDOB (Q203*)	Single nucleotide variant (nonsense)	Hereditary fructosuria	GPathogenic
Select item 2675500	NM_000035.4(ALDOB):c.606C>A (p.Cys202Ter)	ALDOB (C202*)	Single nucleotide variant (nonsense)	Hereditary fructosuria	GLikely pathogenic
Select item 2675516	NM_000035.4(ALDOB):c.541-2A>G	ALDOB	Single nucleotide variant (splice acceptor variant)	Hereditary fructosuria	GLikely pathogenic
Select item 2675466	NM_000035.4(ALDOB):c.538C>T (p.Gln180Ter)	ALDOB (Q180*)	Single nucleotide variant (nonsense)	Hereditary fructosuria	GPathogenic
Select item 465	NM_000035.4(ALDOB):c.524C>A (p.Ala175Asp)	ALDOB (A175D)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic
Select item 1065851	NM_000035.4(ALDOB):c.469C>T (p.Gln157Ter)	ALDOB (Q157*)	Single nucleotide variant (nonsense)	Hereditary fructosuria	GPathogenic
Select item 464	NM_000035.4(ALDOB):c.448G>C (p.Ala150Pro)	ALDOB (A150P)	Single nucleotide variant (missense variant)	See cases +3 more	GPathogenic/Likely pathogenic
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 3241409	NM_000035.4(ALDOB):c.405T>A (p.Cys135Ter)	ALDOB (C135*)	Single nucleotide variant (nonsense)	Hereditary fructosuria	GLikely pathogenic
Select item 1066749	NM_000035.4(ALDOB):c.379+1G>T	ALDOB	Single nucleotide variant (splice donor variant)	Hereditary fructosuria	GPathogenic/Likely 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 3241418	NM_000035.4(ALDOB):c.364_367del (p.Glu122fs)	ALDOB (E122fs)	Deletion (frameshift variant)	Hereditary fructosuria	GLikely pathogenic
Select item 3241414	NM_000035.4(ALDOB):c.364_365del (p.Glu122fs)	ALDOB (E122fs)	Deletion (frameshift variant)	Hereditary fructosuria	GLikely pathogenic
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 1065849	NM_000035.4(ALDOB):c.331C>T (p.Gln111Ter)	ALDOB (Q111*)	Single nucleotide variant (nonsense)	Hereditary fructosuria	GPathogenic
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 595944	NM_000035.4(ALDOB):c.302del (p.Lys101fs)	ALDOB (K101fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
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 188974	NM_000035.4(ALDOB):c.113-1_115del	ALDOB	Deletion (splice acceptor variant)	Hereditary fructosuria	GPathogenic/Likely pathogenic
Select item 1513041	NM_000035.4(ALDOB):c.113-1G>C	ALDOB	Single nucleotide variant (splice acceptor variant)	ALDOB-related disorder +1 more	GPathogenic/Likely pathogenic
Select item 1410748	NM_000035.4(ALDOB):c.61C>T (p.Gln21Ter)	ALDOB (Q21*)	Single nucleotide variant (nonsense)	Hereditary fructosuria	GPathogenic/Likely pathogenic
Select item 945121	NM_000035.4(ALDOB):c.43del (p.Glu15fs)	ALDOB (E15fs)	Deletion (frameshift variant)	Hereditary fructosuria	GPathogenic
Select item 471	NM_000035.4(ALDOB):c.10C>T (p.Arg4Ter)	ALDOB (R4*)	Single nucleotide variant (nonsense)	Hereditary fructosuria	GPathogenic/Likely pathogenic
Select item 495347	NM_000035.4(ALDOB):c.-11+1G>C	ALDOB	Single nucleotide variant (splice donor variant)	Hereditary fructosuria	GPathogenic/Likely pathogenic

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Items: 43