Related gene-specific medical variations for Gene (Select 7743) - ClinVar - NCBI

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Links from Gene

Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2549766	NM_003452.4(ZNF189):c.211G>A (p.Glu71Lys)	LOC126860705, ZNF189 (E29K +3 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2533598	NM_003452.4(ZNF189):c.431A>G (p.Glu144Gly)	ZNF189, LOC126860705 (E102G +3 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2530149	NM_003452.4(ZNF189):c.582T>G (p.His194Gln)	LOC126860705, ZNF189 (H152Q +3 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2522725	NM_003452.4(ZNF189):c.632A>G (p.Lys211Arg)	LOC126860705, ZNF189 (K197R +3 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2491732	NM_003452.4(ZNF189):c.526T>C (p.Phe176Leu)	LOC126860705, ZNF189 (F134L +3 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2476535	NM_003452.4(ZNF189):c.568T>C (p.Phe190Leu)	LOC126860705, ZNF189 (F176L +3 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2401995	NM_003452.4(ZNF189):c.248T>C (p.Ile83Thr)	LOC126860705, ZNF189 (I41T +3 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2345412	NM_003452.4(ZNF189):c.560G>A (p.Arg187His)	LOC126860705, ZNF189 (R145H +3 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2324587	NM_003452.4(ZNF189):c.428C>T (p.Ser143Leu)	LOC126860705, ZNF189 (S129L +3 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2284759	NM_003452.4(ZNF189):c.219T>G (p.Ile73Met)	LOC126860705, ZNF189 (I31M +3 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2255229	NM_003452.4(ZNF189):c.724A>C (p.Ser242Arg)	LOC126860705, ZNF189 (S228R +3 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2210478	NM_003452.4(ZNF189):c.182A>G (p.Asp61Gly)	LOC126860705, ZNF189 (D46G +3 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance