Related gene-specific medical variations for Gene (Select 221527) - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3333848	NM_181842.3(ZBTB12):c.913C>T (p.Arg305Trp)	C2, ZBTB12 (R305W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3333846	NM_181842.3(ZBTB12):c.1016C>T (p.Pro339Leu)	C2, ZBTB12 (P339L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3191901	NM_181842.3(ZBTB12):c.757C>G (p.Pro253Ala)	C2, ZBTB12 (P253A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3191900	NM_181842.3(ZBTB12):c.520C>T (p.Pro174Ser)	C2, ZBTB12 (P174S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3191899	NM_181842.3(ZBTB12):c.479C>T (p.Pro160Leu)	C2, ZBTB12 (P160L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3191898	NM_181842.3(ZBTB12):c.32A>G (p.Gln11Arg)	C2, ZBTB12 (Q11R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3191897	NM_181842.3(ZBTB12):c.18A>T (p.Glu6Asp)	C2, ZBTB12 (E6D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3038897	NM_181842.3(ZBTB12):c.240C>T (p.Ile80=)	C2, ZBTB12	Single nucleotide variant (synonymous variant +2 more)	ZBTB12-related disorder +1 more	GBenign
Select item 3025505	NM_181842.3(ZBTB12):c.1269C>G (p.Arg423=)	C2, ZBTB12	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2618827	NM_181842.3(ZBTB12):c.611A>G (p.Asp204Gly)	C2, ZBTB12 (D204G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2487693	NM_181842.3(ZBTB12):c.781G>T (p.Gly261Cys)	C2, ZBTB12 (G261C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2458048	NM_181842.3(ZBTB12):c.1134G>A (p.Met378Ile)	C2, ZBTB12 (M378I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2394276	NM_181842.3(ZBTB12):c.418G>A (p.Glu140Lys)	C2, ZBTB12 (E140K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2387482	NM_181842.3(ZBTB12):c.567C>G (p.Asp189Glu)	C2, ZBTB12 (D189E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2280302	NM_181842.3(ZBTB12):c.822A>C (p.Glu274Asp)	C2, ZBTB12 (E274D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance