C5543067[trait identifier] AND "Victorian Clinical Genetics Services, - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1805591	NM_015021.3(ZNF292):c.1262A>G (p.Asn421Ser)	ZNF292 (N281S +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder, autosomal dominant 64	GUncertain significance
Select item 1805244	NM_015021.3(ZNF292):c.1618T>C (p.Tyr540His)	ZNF292 (Y400H +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder, autosomal dominant 64	GUncertain significance
Select item 1805656	NM_015021.3(ZNF292):c.2312G>A (p.Arg771Gln)	ZNF292 (R631Q +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder, autosomal dominant 64	GLikely benign
Select item 1805349	NM_015021.3(ZNF292):c.3064G>C (p.Glu1022Gln)	ZNF292 (E1022Q +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder, autosomal dominant 64	GUncertain significance
Select item 1803333	NM_015021.3(ZNF292):c.3432_3436del (p.Asn1144fs)	ZNF292 (N1004fs +1 more)	Deletion (frameshift variant)	Intellectual developmental disorder, autosomal dominant 64 +1 more	GPathogenic
Select item 1805350	NM_015021.3(ZNF292):c.4450C>T (p.Gln1484Ter)	ZNF292 (Q1344* +1 more)	Single nucleotide variant (nonsense)	Intellectual developmental disorder, autosomal dominant 64	GPathogenic
Select item 1805216	NM_015021.3(ZNF292):c.5584C>A (p.Leu1862Met)	ZNF292 (L1722M +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder, autosomal dominant 64	GUncertain significance
Select item 1698954	NM_015021.3(ZNF292):c.6266_6269del (p.Lys2089fs)	ZNF292 (K1949fs +1 more)	Deletion (frameshift variant)	Intellectual developmental disorder, autosomal dominant 64	GPathogenic