"ATS em Genética Clínica, Universidade Federal do Rio Grande do Sul"[s - ClinVar

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Items: 67

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1065874	NM_000035.4(ALDOB):c.*516T>A	ALDOB	Single nucleotide variant (3 prime UTR variant)	Hereditary fructosuria	GLikely pathogenic
Select item 1065873	NM_000035.4(ALDOB):c.1044_1049delinsACACT (p.Ser349fs)	ALDOB (S349fs)	Indel (frameshift variant)	Hereditary fructosuria	GLikely pathogenic
Select item 30980	NM_000035.4(ALDOB):c.1027T>C (p.Tyr343His)	ALDOB (Y343H)	Single nucleotide variant (missense variant)	not specified +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 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)	ALDOB-related condition +2 more	GPathogenic
Select item 1065868	NM_000035.4(ALDOB):c.954_995del (p.Ala319_Ala332del)	ALDOB	Deletion (inframe_deletion)	Hereditary fructosuria	GLikely pathogenic
Select item 555807	NM_000035.4(ALDOB):c.940dup (p.Trp314fs)	ALDOB (W314fs)	Duplication (frameshift variant)	Hereditary fructosuria	GLikely pathogenic
Select item 1065859	NM_000035.4(ALDOB):c.932T>C (p.Leu311Pro)	ALDOB (L311P)	Single nucleotide variant (missense variant)	Hereditary fructosuria	GLikely pathogenic
Select item 417929	NM_000035.4(ALDOB):c.911G>A (p.Arg304Gln)	ALDOB (R304Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 1065858	NM_000035.4(ALDOB):c.910C>T (p.Arg304Trp)	ALDOB (R304W)	Single nucleotide variant (missense variant)	Hereditary fructosuria	GUncertain significance
Select item 218381	NM_000035.4(ALDOB):c.865del (p.Leu289fs)	ALDOB (L289fs)	Deletion (frameshift variant)	Hereditary fructosuria +1 more	GPathogenic
Select item 1065857	NM_000035.4(ALDOB):c.851T>C (p.Leu284Pro)	ALDOB (L284P)	Single nucleotide variant (missense variant)	Hereditary fructosuria	GLikely pathogenic
Select item 1065867	NM_000035.4(ALDOB):c.841_842del (p.Thr281fs)	ALDOB (T281fs)	Deletion (frameshift variant)	Hereditary fructosuria	GPathogenic
Select item 1065856	NM_000035.4(ALDOB):c.839C>A (p.Ala280Asp)	ALDOB (A280D)	Single nucleotide variant (missense variant)	Hereditary fructosuria	GLikely pathogenic
Select item 1065865	NM_000035.4(ALDOB):c.541-153_800-175del	ALDOB	Deletion (splice acceptor variant +1 more)	Hereditary fructosuria	GLikely pathogenic
Select item 1065878	NM_000035.4(ALDOB):c.799+2T>A	ALDOB	Single nucleotide variant (splice donor variant)	Hereditary fructosuria	GLikely pathogenic
Select item 1065855	NM_000035.4(ALDOB):c.770T>C (p.Leu257Pro)	ALDOB (L257P)	Single nucleotide variant (missense variant)	Hereditary fructosuria	GPathogenic
Select item 1065871	NM_000035.4(ALDOB):c.761dup (p.Thr255fs)	ALDOB (T255fs)	Duplication (frameshift variant)	Hereditary fructosuria	GPathogenic
Select item 468	NM_000035.4(ALDOB):c.720C>A (p.Cys240Ter)	ALDOB (C240*)	Single nucleotide variant (nonsense)	Hereditary fructosuria	GPathogenic/Likely pathogenic
Select item 1065870	NM_000035.4(ALDOB):c.683_688dup (p.Leu229_Lys230insMetLeu)	ALDOB	Duplication (inframe_insertion)	Hereditary fructosuria	GLikely pathogenic
Select item 1065866	NM_000035.4(ALDOB):c.689del (p.Lys230fs)	ALDOB (K230fs)	Deletion (frameshift variant)	Hereditary fructosuria	GLikely pathogenic
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 1065854	NM_000035.4(ALDOB):c.677G>A (p.Gly226Asp)	ALDOB (G226D)	Single nucleotide variant (missense variant)	Hereditary fructosuria	GLikely pathogenic
Select item 553075	NM_000035.4(ALDOB):c.664G>T (p.Val222Phe)	ALDOB (V222F)	Single nucleotide variant (missense variant)	Hereditary fructosuria	GUncertain significance
Select item 473	NM_000035.4(ALDOB):c.625-1G>A	ALDOB	Single nucleotide variant (splice acceptor variant)	Hereditary fructosuria	GPathogenic/Likely 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 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 1065853	NM_000035.4(ALDOB):c.554C>G (p.Pro185Arg)	ALDOB (P185R)	Single nucleotide variant (missense variant)	Hereditary fructosuria	GLikely pathogenic
Select item 474	NM_000035.4(ALDOB):c.548_553del (p.Leu183_Val184del)	ALDOB	Deletion (inframe_deletion)	Hereditary fructosuria	GPathogenic
Select item 1065877	NM_000035.4(ALDOB):c.540+1G>C	ALDOB	Single nucleotide variant (splice donor variant)	Hereditary fructosuria	GLikely pathogenic
Select item 1065852	NM_000035.4(ALDOB):c.532T>C (p.Cys178Arg)	ALDOB (C178R)	Single nucleotide variant (missense variant)	Hereditary fructosuria	GLikely pathogenic
Select item 465	NM_000035.4(ALDOB):c.524C>A (p.Ala175Asp)	ALDOB (A175D)	Single nucleotide variant (missense variant)	Hereditary fructosuria +4 more	GPathogenic
Select item 555545	NM_000035.4(ALDOB):c.522C>G (p.Tyr174Ter)	ALDOB (Y174*)	Single nucleotide variant (nonsense)	Hereditary fructosuria	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)	Hereditary fructosuria +4 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 475	NM_000035.4(ALDOB):c.442T>C (p.Trp148Arg)	ALDOB (W148R)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1065850	NM_000035.4(ALDOB):c.403T>C (p.Cys135Arg)	ALDOB (C135R)	Single nucleotide variant (missense variant)	Hereditary fructosuria	GPathogenic
Select item 553732	NM_000035.4(ALDOB):c.380-1G>A	ALDOB	Single nucleotide variant (splice acceptor variant)	Hereditary fructosuria	GLikely pathogenic
Select item 1065864	NM_000035.4(ALDOB):c.345_372del (p.Leu116fs)	ALDOB (L116fs)	Deletion (frameshift variant)	Hereditary fructosuria	GLikely pathogenic
Select item 188861	NM_000035.4(ALDOB):c.360_363del (p.Asn120fs)	ALDOB (N120fs)	Microsatellite (frameshift variant)	Hereditary fructosuria +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 1065876	NM_000035.4(ALDOB):c.325-1G>C	ALDOB	Single nucleotide variant (splice acceptor variant)	Hereditary fructosuria	GLikely 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 1065869	NM_000035.4(ALDOB):c.306_317dup (p.Val104_Ile107dup)	ALDOB	Duplication (inframe_insertion)	Hereditary fructosuria	GUncertain significance
Select item 285374	NM_000035.4(ALDOB):c.264C>A (p.Asp88Glu)	ALDOB (D88E)	Single nucleotide variant (missense variant)	Hereditary fructosuria +1 more	GConflicting classifications of pathogenicity
Select item 928611	NM_000035.4(ALDOB):c.250del (p.Leu84fs)	ALDOB (L84fs)	Deletion (frameshift variant)	Hereditary fructosuria	GPathogenic/Likely 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)	See cases +4 more	GPathogenic/Likely pathogenic
Select item 1065848	NM_000035.4(ALDOB):c.170G>C (p.Arg57Pro)	ALDOB (R57P)	Single nucleotide variant (missense variant)	Hereditary fructosuria	GLikely pathogenic
Select item 1065863	NM_000035.4(ALDOB):c.146del (p.Val49fs)	ALDOB (V49fs)	Deletion (frameshift variant)	Hereditary fructosuria	GLikely pathogenic
Select item 30979	NM_000035.4(ALDOB):c.136A>T (p.Arg46Trp)	ALDOB (R46W)	Single nucleotide variant (missense variant)	Hereditary fructosuria +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 945681	NM_000035.4(ALDOB):c.113-1G>A	ALDOB	Single nucleotide variant (splice acceptor variant)	Hereditary fructosuria	GLikely pathogenic
Select item 1065875	NM_000035.4(ALDOB):c.112+1G>A	ALDOB	Single nucleotide variant (splice donor variant)	Hereditary fructosuria	GLikely pathogenic
Select item 370497	NM_000035.4(ALDOB):c.112+1del	ALDOB	Deletion (splice donor variant)	Hereditary fructosuria	GLikely pathogenic
Select item 1065862	NM_000035.4(ALDOB):c.62del (p.Gln21fs)	ALDOB (Q21fs)	Deletion (frameshift 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
Select item 945084	NM_000035.4(ALDOB):c.2T>C (p.Met1Thr)	ALDOB (M1T)	Single nucleotide variant (missense variant +1 more)	Hereditary fructosuria	GLikely pathogenic
Select item 495347	NM_000035.4(ALDOB):c.-11+1G>C	ALDOB	Single nucleotide variant (splice donor variant)	Hereditary fructosuria	GPathogenic/Likely pathogenic
Select item 1065879	NC_000009.12:g.101435743_101435818del	ALDOB	Deletion	Hereditary fructosuria	GLikely pathogenic
Select item 500745	NM_000035.4(ALDOB):c.-214G>A	ALDOB	Single nucleotide variant	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1065861	NM_000035.4:c.-10_624del	ALDOB	Deletion	Hereditary fructosuria	GLikely pathogenic
Select item 1065860	NM_000035.4:c.1_624del	ALDOB	Deletion	Hereditary fructosuria	GLikely pathogenic

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Items: 67