ClinVar for Gene (Select 9278) - ClinVar

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Links from Gene

Items: 35

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3333888	NM_005453.5(ZBTB22):c.1873A>G (p.Met625Val)	ZBTB22 (M625V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3333887	NM_005453.5(ZBTB22):c.1226C>G (p.Pro409Arg)	LOC123620086, ZBTB22 (P409R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3246013	NC_000006.11:g.(?_33131455)_(33388128_?)dup	B3GALT4, COL11A2 +17 more	Duplication	MHC class I deficiency	GUncertain significance
Select item 3191960	NM_005453.5(ZBTB22):c.1888G>C (p.Gly630Arg)	ZBTB22 (G630R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191958	NM_005453.5(ZBTB22):c.1427G>A (p.Gly476Glu)	LOC123620086, ZBTB22 (G476E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191957	NM_005453.5(ZBTB22):c.1389C>G (p.Ser463Arg)	LOC123620086, ZBTB22 (S463R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191956	NM_005453.5(ZBTB22):c.1287C>G (p.Phe429Leu)	LOC123620086, ZBTB22 (F429L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191955	NM_005453.5(ZBTB22):c.1172G>T (p.Gly391Val)	LOC123620086, ZBTB22 (G391V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191954	NM_005453.5(ZBTB22):c.1162G>A (p.Glu388Lys)	LOC123620086, ZBTB22 (E388K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2621790	NM_005453.5(ZBTB22):c.1826C>T (p.Pro609Leu)	ZBTB22 (P609L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604988	NM_005453.5(ZBTB22):c.1702C>T (p.Arg568Cys)	ZBTB22 (R568C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588049	NM_005453.5(ZBTB22):c.1222G>C (p.Ala408Pro)	LOC123620086, ZBTB22 (A408P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548824	NM_005453.5(ZBTB22):c.1018C>G (p.Leu340Val)	LOC123620086, ZBTB22 (L340V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548073	NM_005453.5(ZBTB22):c.1070G>A (p.Ser357Asn)	LOC123620086, ZBTB22 (S357N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2496161	NM_005453.5(ZBTB22):c.1336G>A (p.Gly446Arg)	LOC123620086, ZBTB22 (G446R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491007	NM_005453.5(ZBTB22):c.1891G>A (p.Gly631Arg)	ZBTB22 (G631R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482243	NM_005453.5(ZBTB22):c.1399C>T (p.Pro467Ser)	LOC123620086, ZBTB22 (P467S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2445505	NC_000006.11:g.(?_32148920)_(36953949_?)dup	ARMC12, BRPF3 +94 more	Duplication	not provided	GUncertain significance
Select item 2427350	NC_000006.11:g.(?_30695893)_(36953949_?)dup	ABHD16A, AGER +172 more	Duplication	Proteasome-associated autoinflammatory syndrome 1	GUncertain significance
Select item 2388649	NM_005453.5(ZBTB22):c.587G>A (p.Arg196Gln)	ZBTB22 (R196Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384987	NM_005453.5(ZBTB22):c.946G>T (p.Asp316Tyr)	ZBTB22 (D316Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365308	NM_005453.5(ZBTB22):c.1723G>A (p.Val575Ile)	ZBTB22 (V575I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343136	NM_005453.5(ZBTB22):c.1243C>T (p.Pro415Ser)	LOC123620086, ZBTB22 (P415S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234493	NM_005453.5(ZBTB22):c.1394G>A (p.Gly465Asp)	LOC123620086, ZBTB22 (G465D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210708	NM_005453.5(ZBTB22):c.1774T>A (p.Ser592Thr)	ZBTB22 (S592T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1527234	GRCh37/hg19 6p21.32-21.31(chr6:33069892-33751391)	B3GALT4, BAK1 +23 more	Copy number gain	not specified	GUncertain significance
Select item 831717	NC_000006.12:g.(?_33173681)_(33451926_?)dup	B3GALT4, COL11A2 +17 more	Duplication	Intellectual disability, autosomal dominant 5	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 660703	NC_000006.11:g.(?_33131435)_(33419703_?)dup	B3GALT4, COL11A2 +26 more	Duplication	Intellectual disability, autosomal dominant 5	GUncertain significance
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
Select item 403519	NC_000006.12:g.33315989T>C	TAPBP, ZBTB22 (T310A)	Single nucleotide variant (missense variant)	not specified	GBenign
Select item 221456	GRCh37/hg19 6p21.32(chr6:33256191-33400523)x3	KIFC1, CUTA +8 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	ILRUN-AS1, IP6K3 +2582 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 35