ZBTB12[gene] - ClinVar

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Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	ILRUN-AS1, IP6K3 +2582 more	Copy number gain	See cases	GPathogenic
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 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 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 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 2280302	NM_181842.3(ZBTB12):c.822A>C (p.Glu274Asp)	C2, ZBTB12 (E274D)	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 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 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 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 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 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 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 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 3246239	NC_000006.11:g.(?_31620520)_(31937492_?)del	ABHD16A, APOM +28 more	Deletion	not provided	GUncertain significance
Select item 3246158	NC_000006.11:g.(?_31631971)_(31895135_?)del	ABHD16A, C2 +23 more	Deletion	not provided	GPathogenic
Select item 2427350	NC_000006.11:g.(?_30695893)_(36953949_?)dup	ABHD16A, AGER +172 more	Duplication	Proteasome-associated autoinflammatory syndrome 1	GUncertain significance
Select item 2424220	NC_000006.11:g.(?_30695893)_(31937492_?)dup	ABHD16A, AIF1 +63 more	Duplication	not provided	GUncertain significance
Select item 1527232	GRCh37/hg19 6p21.33(chr6:31384577-31902308)	ABHD16A, AIF1 +40 more	Copy number gain	not specified	GUncertain significance
Select item 814807	GRCh37/hg19 6p21.33-21.31(chr6:31036397-34088832)x3	ABHD16A, AGER +117 more	Copy number gain	not provided	GLikely pathogenic
Select item 625706	GRCh37/hg19 6p22.1-q14.1(chr6:29455465-81447367)	ERVH-3, ETV7 +427 more	Copy number gain	not provided	GPathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AARS2, ABCC10 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	RING1, RIOK1 +1028 more	Copy number gain	See cases	GPathogenic

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Items: 25