Related gene-specific medical variations for Gene (Select 229) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 34

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2675545	NM_000035.4(ALDOB):c.799+2T>C	ALDOB	Single nucleotide variant (splice donor variant)	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 2675507	NM_000035.4(ALDOB):c.624+1G>A	ALDOB	Single nucleotide variant (splice donor variant)	Hereditary fructosuria	GLikely pathogenic
Select item 2675500	NM_000035.4(ALDOB):c.606C>A (p.Cys202Ter)	ALDOB (C202*)	Single nucleotide variant (nonsense)	Hereditary fructosuria	GLikely pathogenic
Select item 2675494	NM_000035.4(ALDOB):c.800-2A>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 2675446	NM_000035.4(ALDOB):c.541-277_651delinsATGGGTT	ALDOB	Indel (splice acceptor variant +1 more)	Hereditary fructosuria	GLikely pathogenic
Select item 1065879	NC_000009.12:g.101435743_101435818del	ALDOB	Deletion	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 1065877	NM_000035.4(ALDOB):c.540+1G>C	ALDOB	Single nucleotide variant (splice donor variant)	Hereditary fructosuria	GLikely pathogenic
Select item 1065876	NM_000035.4(ALDOB):c.325-1G>C	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 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 1065870	NM_000035.4(ALDOB):c.683_688dup (p.Leu229_Lys230insMetLeu)	ALDOB	Duplication (inframe_insertion)	Hereditary fructosuria	GLikely pathogenic
Select item 1065868	NM_000035.4(ALDOB):c.954_995del (p.Ala319_Ala332del)	ALDOB	Deletion (inframe_deletion)	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 1065865	NM_000035.4(ALDOB):c.541-153_800-175del	ALDOB	Deletion (splice acceptor variant +1 more)	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 1065863	NM_000035.4(ALDOB):c.146del (p.Val49fs)	ALDOB (V49fs)	Deletion (frameshift 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 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
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 1065857	NM_000035.4(ALDOB):c.851T>C (p.Leu284Pro)	ALDOB (L284P)	Single nucleotide variant (missense variant)	Hereditary fructosuria	GLikely pathogenic
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 1065854	NM_000035.4(ALDOB):c.677G>A (p.Gly226Asp)	ALDOB (G226D)	Single nucleotide variant (missense variant)	Hereditary fructosuria	GLikely 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 1065852	NM_000035.4(ALDOB):c.532T>C (p.Cys178Arg)	ALDOB (C178R)	Single nucleotide variant (missense variant)	Hereditary fructosuria	GLikely pathogenic
Select item 1065850	NM_000035.4(ALDOB):c.403T>C (p.Cys135Arg)	ALDOB (C135R)	Single nucleotide variant (missense variant)	Hereditary fructosuria	GPathogenic
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 991610	NM_000035.4(ALDOB):c.187C>T (p.Leu63Phe)	ALDOB (L63F)	Single nucleotide variant (missense variant)	Hereditary fructosuria	GUncertain significance
Select item 991608	NM_000035.4(ALDOB):c.583G>A (p.Gly195Arg)	ALDOB (G195R)	Single nucleotide variant (missense variant)	Hereditary fructosuria	GUncertain significance
Select item 991607	NM_000035.4(ALDOB):c.640T>C (p.Tyr214His)	ALDOB (Y214H)	Single nucleotide variant (missense variant)	Hereditary fructosuria	GUncertain significance

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 34