C3281202[trait identifier] AND "Neuberg Centre For Genomic Medicine, N - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2664227	NM_006734.4(HIVEP2):c.1610C>T (p.Ser537Phe)	HIVEP2 (S537F)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 13	GUncertain significance
Select item 1878574	NM_001376.5(DYNC1H1):c.195G>T (p.Met65Ile)	DYNC1H1 (M65I)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 13	GUncertain significance
Select item 2585408	NM_001376.5(DYNC1H1):c.4067C>T (p.Pro1356Leu)	DYNC1H1 (P1356L)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 13	GLikely pathogenic
Select item 1033420	NM_001376.5(DYNC1H1):c.7474C>T (p.Arg2492Ter)	DYNC1H1 (R2492*)	Single nucleotide variant (nonsense)	Intellectual disability, autosomal dominant 13	GLikely pathogenic
Select item 1339068	NM_001376.5(DYNC1H1):c.8324A>G (p.Glu2775Gly)	DYNC1H1 (E2775G)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 13	GUncertain significance
Select item 1878654	NM_001376.5(DYNC1H1):c.9286G>A (p.Asp3096Asn)	DYNC1H1, LOC126862060 (D3096N)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 13	GUncertain significance
Select item 1339084	NM_001376.5(DYNC1H1):c.10117T>C (p.Ser3373Pro)	DYNC1H1 (S3373P)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 13	GUncertain significance
Select item 2585064	NM_001376.5(DYNC1H1):c.10550C>T (p.Ala3517Val)	DYNC1H1 (A3517V)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 13	GUncertain significance
Select item 644627	NM_001376.5(DYNC1H1):c.10970G>C (p.Gly3657Ala)	DYNC1H1 (G3657A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity