ClinVar for MedGen (Select 373138) - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3064127	NM_001478.5(B4GALNT1):c.1322C>A (p.Ala441Glu)	B4GALNT1 (A112E +8 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 26	GLikely pathogenic
Select item 2582464	NM_001478.5(B4GALNT1):c.532-2_532-1delinsTC	B4GALNT1	Indel (splice acceptor variant)	Hereditary spastic paraplegia 26	GLikely pathogenic
Select item 2573474	NM_001478.5(B4GALNT1):c.584del (p.Gly195fs)	B4GALNT1 (G140fs +1 more)	Deletion (frameshift variant +1 more)	Hereditary spastic paraplegia 26	GPathogenic
Select item 1000899	NM_001478.5(B4GALNT1):c.512C>T (p.Ser171Phe)	B4GALNT1 (S116F +1 more)	Single nucleotide variant (missense variant)	Spastic paraplegia +1 more	GConflicting classifications of pathogenicity
Select item 989144	NM_001478.5(B4GALNT1):c.1513C>T (p.Arg505Cys)	B4GALNT1 (R450C +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 26	GPathogenic
Select item 989143	NM_001478.5(B4GALNT1):c.1415G>C (p.Arg472Pro)	B4GALNT1 (R417P +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 26	GPathogenic
Select item 947526	NM_001478.5(B4GALNT1):c.1002G>T (p.Lys334Asn)	B4GALNT1 (K279N +1 more)	Single nucleotide variant (missense variant)	Spastic paraplegia +1 more	GConflicting classifications of pathogenicity
Select item 851170	NM_001478.5(B4GALNT1):c.1088C>G (p.Ala363Gly)	B4GALNT1 (A308G +1 more)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 839034	NM_001478.5(B4GALNT1):c.532-2A>G	B4GALNT1	Single nucleotide variant (splice acceptor variant)	Spastic paraplegia +1 more	GPathogenic/Likely pathogenic
Select item 835530	NM_001478.5(B4GALNT1):c.1545G>A (p.Met515Ile)	B4GALNT1 (M460I +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 26 +3 more	GUncertain significance
Select item 458224	NM_001478.5(B4GALNT1):c.728A>G (p.Glu243Gly)	B4GALNT1 (E243G +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 26 +1 more	GUncertain significance
Select item 451967	NM_001478.5(B4GALNT1):c.1400G>A (p.Gly467Glu)	B4GALNT1 (G467E +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 239026	NM_001478.5(B4GALNT1):c.793G>A (p.Gly265Arg)	B4GALNT1 (G265R +1 more)	Single nucleotide variant (missense variant)	B4GALNT1-related disorder +4 more	GBenign/Likely benign
Select item 60527	NM_001478.5(B4GALNT1):c.1298A>C (p.Asp433Ala)	B4GALNT1 (D433A +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 26	GPathogenic
Select item 60526	NM_001478.5(B4GALNT1):c.358C>T (p.Gln120Ter)	B4GALNT1 (Q120*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 60525	NM_001478.5(B4GALNT1):c.263dup (p.Leu89fs)	B4GALNT1 (L89fs)	Duplication (frameshift variant +1 more)	Spastic paraplegia +3 more	GPathogenic/Likely pathogenic
Select item 60524	NM_001478.5(B4GALNT1):c.682C>T (p.Arg228Ter)	B4GALNT1 (R228* +1 more)	Single nucleotide variant (nonsense)	Hereditary spastic paraplegia 26	GPathogenic
Select item 60523	NM_001478.5(B4GALNT1):c.395del (p.Pro132fs)	B4GALNT1 (P132fs +1 more)	Deletion (frameshift variant)	Hereditary spastic paraplegia 26	GPathogenic