"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "HPDL"[gene - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 979212	NM_032756.4(HPDL):c.149G>A (p.Gly50Asp)	HPDL (G50D)	Single nucleotide variant (missense variant)	Spastic ataxia +2 more	GPathogenic
Select item 2638786	NM_032756.4(HPDL):c.421C>G (p.Pro141Ala)	HPDL (P141A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 986812	NM_032756.4(HPDL):c.469T>C (p.Trp157Arg)	HPDL (W157R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 979210	NM_032756.4(HPDL):c.503G>A (p.Cys168Tyr)	HPDL (C168Y)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1320816	NM_032756.4(HPDL):c.569C>T (p.Pro190Leu)	HPDL (P190L)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 2638787	NM_032756.4(HPDL):c.750G>C (p.Arg250=)	HPDL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2498404	NM_032756.4(HPDL):c.852del (p.Ala286fs)	HPDL, LOC129930440 (A286fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 2638788	NM_032756.4(HPDL):c.879G>A (p.Lys293=)	HPDL, LOC129930440	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2638789	NM_032756.4(HPDL):c.995C>T (p.Thr332Ile)	HPDL (T332I)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1694510	NM_032756.4(HPDL):c.1017G>A (p.Glu339=)	HPDL	Single nucleotide variant (synonymous variant)	Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities +2 more	GLikely benign
Select item 2638790	NM_032756.4(HPDL):c.1065A>G (p.Arg355=)	HPDL	Single nucleotide variant (synonymous variant)	not provided	GBenign