"Institute of Human Genetics, University of Leipzig Medical Center"[su - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3052	NM_000487.6(ARSA):c.1283C>T (p.Pro428Leu)	ARSA (P428L +1 more)	Single nucleotide variant (missense variant)	Metachromatic leukodystrophy +1 more	GPathogenic
Select item 68115	NM_000487.6(ARSA):c.1156C>T (p.Arg386Cys)	ARSA (R386C +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 3060	NM_000487.6(ARSA):c.931G>A (p.Gly311Ser)	ARSA (G311S +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 3057	NM_000487.6(ARSA):c.542T>G (p.Ile181Ser)	ARSA (I181S +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 3051	NM_000487.6(ARSA):c.465+1G>A	ARSA	Single nucleotide variant (splice donor variant)	Metachromatic leukodystrophy +5 more	GPathogenic
Select item 68134	NM_000487.6(ARSA):c.449C>T (p.Pro150Leu)	ARSA (P150L +1 more)	Single nucleotide variant (missense variant)	Metachromatic leukodystrophy +1 more	GPathogenic/Likely pathogenic
Select item 21186	NM_000487.6(ARSA):c.257G>A (p.Arg86Gln)	ARSA (R86Q)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic
Select item 2580335	GRCh37/hg19 22q13.33(chr22:50014114-51244066)x1	ACR, ADM2 +34 more	Copy number loss	Chromosome 22q13 duplication syndrome	GPathogenic
Select item 1330161	GRCh37/hg19 22q13.2-13.33(chr22:42321321-51244066)x1	A4GALT, ACR +96 more	Copy number loss	Phelan-McDermid syndrome	GPathogenic
Select item 997819	Single allele	BIK, BRD1 +94 more	Deletion	Intellectual disability	GPathogenic