Related gene-specific medical variations for Gene (Select 152485) - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3198653	NM_001306215.2(ZNF827):c.3058G>A (p.Glu1020Lys)	C4orf51, ZNF827 (E1020K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198652	NM_001306215.2(ZNF827):c.2890A>G (p.Asn964Asp)	C4orf51, ZNF827 (N964D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198651	NM_001306215.2(ZNF827):c.2647G>A (p.Val883Ile)	C4orf51, ZNF827 (V883I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2672164	NM_001306215.2(ZNF827):c.808G>T (p.Glu270Ter)	ZNF827 (E270*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2618138	NM_001306215.2(ZNF827):c.3007C>T (p.Pro1003Ser)	C4orf51, ZNF827 (P1003S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2568427	NM_001306215.2(ZNF827):c.2845G>A (p.Gly949Ser)	C4orf51, ZNF827 (G949S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552027	NM_001306215.2(ZNF827):c.2534A>G (p.Tyr845Cys)	C4orf51, ZNF827 (Y845C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493833	NM_001306215.2(ZNF827):c.3220G>A (p.Gly1074Ser)	C4orf51, ZNF827 (G1074S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2430057	NM_001306215.2(ZNF827):c.590T>A (p.Leu197Ter)	ZNF827 (L197*)	Single nucleotide variant (nonsense)	Autism spectrum disorder	GUncertain significance
Select item 2429816	NM_001306215.2(ZNF827):c.706C>T (p.Arg236Ter)	ZNF827 (R236*)	Single nucleotide variant (nonsense)	Autism spectrum disorder	GLikely benign
Select item 2288044	NM_001306215.2(ZNF827):c.2888C>T (p.Ser963Leu)	C4orf51, ZNF827 (S963L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280456	NM_001306215.2(ZNF827):c.2483G>A (p.Arg828Gln)	C4orf51, ZNF827 (R828Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240636	NM_001306215.2(ZNF827):c.2783C>T (p.Ser928Leu)	C4orf51, ZNF827 (S928L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218473	NM_001306215.2(ZNF827):c.2461G>A (p.Val821Met)	C4orf51, ZNF827 (V821M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 736538	NM_001306215.2(ZNF827):c.2718C>T (p.Thr906=)	C4orf51, ZNF827	Single nucleotide variant (synonymous variant)	not provided	GBenign