C0023520[trait identifier] AND "Centre for Mendelian Genomics, Univers - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 523456	NM_002979.5(SCP2):c.199G>A (p.Gly67Ser)	SCP2 (G67S)	Single nucleotide variant (missense variant +2 more)	Leukodystrophy	GUncertain significance
Select item 523282	GRCh37/hg19 6p24.1-23(chr6:12536624-13968949)	RNF182, SIRT5 +6 more	Copy number gain	Astigmatism +12 more	GUncertain significance
Select item 374024	NM_000153.4(GALC):c.850G>A (p.Gly284Ser)	GALC (G284S +2 more)	Single nucleotide variant (missense variant)	Developmental regression +20 more	GPathogenic/Likely pathogenic
Select item 374023	NM_000153.4(GALC):c.196G>A (p.Ala66Thr)	GALC (A66T +1 more)	Single nucleotide variant (missense variant +1 more)	Galactosylceramide beta-galactosidase deficiency +19 more	GLikely pathogenic
Select item 523368	NM_000400.4(ERCC2):c.2080C>T (p.Pro694Ser)	ERCC2 (P694S)	Single nucleotide variant (missense variant)	Leukodystrophy +2 more	GConflicting classifications of pathogenicity
Select item 134095	NM_000400.4(ERCC2):c.1703_1704del (p.Phe568fs)	ERCC2 (F568fs)	Deletion (frameshift variant)	Inborn genetic diseases +7 more	GPathogenic/Likely pathogenic
Select item 3080	NM_000487.6(ARSA):c.1010A>T (p.Asp337Val)	ARSA (D337V +1 more)	Single nucleotide variant (missense variant)	Metachromatic leukodystrophy +2 more	GPathogenic/Likely pathogenic
Select item 373913	NM_004208.4(AIFM1):c.1646C>T (p.Ala549Val)	RAB33A, AIFM1 (A549V +2 more)	Single nucleotide variant (missense variant +2 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 523398	NM_001379110.1(SLC9A6):c.1190C>A (p.Ala397Glu)	SLC9A6 (A449E +3 more)	Single nucleotide variant (missense variant)	Astigmatism +12 more	GUncertain significance