ClinVar for Gene (Select 56242) - ClinVar

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Links from Gene

Items: 42

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3335258	NM_021047.3(ZNF253):c.503G>A (p.Gly168Glu)	ZNF253 (G104E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3335257	NM_021047.3(ZNF253):c.1283A>G (p.Glu428Gly)	ZNF253 (E428G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3335256	NM_021047.3(ZNF253):c.1117T>C (p.Cys373Arg)	ZNF253 (C297R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3335255	NM_021047.3(ZNF253):c.1246A>G (p.Arg416Gly)	ZNF253 (R352G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194683	NM_021047.3(ZNF253):c.76C>T (p.Arg26Trp)	ZNF253 (R26W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3194682	NM_021047.3(ZNF253):c.491C>T (p.Thr164Ile)	ZNF253 (T164I +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3194681	NM_021047.3(ZNF253):c.419A>C (p.Gln140Pro)	ZNF253 (Q140P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194680	NM_021047.3(ZNF253):c.370G>A (p.Val124Met)	ZNF253 (V60M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194679	NM_021047.3(ZNF253):c.1471G>A (p.Val491Ile)	ZNF253 (V427I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062380	GRCh37/hg19 19p13.11-12(chr19:18926463-21100330)x1	ARMC6, ATP13A1 +36 more	Copy number loss	not specified	GUncertain significance
Select item 2649614	NM_021047.3(ZNF253):c.306T>C (p.Tyr102=)	ZNF253	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2621915	NM_021047.3(ZNF253):c.290G>T (p.Gly97Val)	ZNF253 (G21V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532684	NM_021047.3(ZNF253):c.431T>G (p.Phe144Cys)	ZNF253 (F68C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532079	NM_021047.3(ZNF253):c.1157A>G (p.His386Arg)	ZNF253 (H310R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494227	NM_021047.3(ZNF253):c.986T>C (p.Ile329Thr)	ZNF253 (I329T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489678	NM_021047.3(ZNF253):c.184C>A (p.Pro62Thr)	ZNF253 (P62T)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2412505	NM_021047.3(ZNF253):c.526A>C (p.Ile176Leu)	ZNF253 (I112L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407317	NM_021047.3(ZNF253):c.194T>C (p.Met65Thr)	ZNF253 (M1T +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2406556	NM_021047.3(ZNF253):c.653A>C (p.His218Pro)	ZNF253 (H154P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404565	NM_021047.3(ZNF253):c.302G>C (p.Arg101Thr)	ZNF253 (R37T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404068	NM_021047.3(ZNF253):c.853A>C (p.Lys285Gln)	ZNF253 (K209Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380949	NM_021047.3(ZNF253):c.281T>C (p.Phe94Ser)	ZNF253 (F30S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365906	NM_021047.3(ZNF253):c.565A>G (p.Thr189Ala)	ZNF253 (T125A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357489	NM_021047.3(ZNF253):c.1347G>C (p.Glu449Asp)	ZNF253 (E373D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337144	NM_021047.3(ZNF253):c.894C>G (p.His298Gln)	ZNF253 (H234Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333617	NM_021047.3(ZNF253):c.212T>C (p.Ile71Thr)	ZNF253 (I71T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2222108	NM_021047.3(ZNF253):c.547C>T (p.Arg183Trp)	ZNF253 (R183W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216366	NM_021047.3(ZNF253):c.839G>C (p.Gly280Ala)	ZNF253 (G216A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1330177	GRCh37/hg19 19p13.11-q13.2(chr19:19546923-41313229)x3	ACP7, ACTMAP +255 more	Copy number gain	Specific learning disability	GPathogenic
Select item 980194	GRCh37/hg19 19p13.12-12(chr19:14286624-20956753)x3	BST2, NWD1 +158 more	Copy number gain	not provided	GPathogenic
Select item 816525	GRCh37/hg19 19p13.11-12(chr19:19973452-20499525)x3	ZNF90, ZNF93 +3 more	Copy number gain	See cases	GUncertain significance
Select item 719523	NM_021047.3(ZNF253):c.517A>G (p.Lys173Glu)	ZNF253 (K109E +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 564603	GRCh37/hg19 19p13.11-12(chr19:19903805-21966609)x1	ZNF737, ZNF708 +14 more	Copy number loss	not provided	GUncertain significance
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	PGLYRP1, PGLYRP2 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	TMC4, TMED1 +1364 more	Copy number gain	See cases	GPathogenic
Select item 221350	chr19:19230868-24115369 complex variant	ATP13A1, BORCS8 +49 more	Complex	Breast ductal adenocarcinoma	GUncertain significance
Select item 155371	GRCh38/hg38 19p13.11-12(chr19:19767502-21093565)x1	ERVS71-1, LINC00663 +25 more	Copy number loss	See cases	GUncertain significance
Select item 148871	GRCh38/hg38 19p13.11-12(chr19:19859042-20621825)x3	ERVS71-1, LOC125371497 +14 more	Copy number gain	See cases	GUncertain significance
Select item 147522	GRCh38/hg38 19p13.12-12(chr19:15133594-24193591)x3	ABHD8, AKAP8 +574 more	Copy number gain	See cases	GPathogenic
Select item 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	ABHD8, ACP5 +2135 more	Copy number gain	See cases	GPathogenic
Select item 59114	GRCh38/hg38 19p13.12-q11(chr19:13974677-27839676)x3	ABHD8, ADGRE2 +695 more	Copy number gain	See cases	GPathogenic
Select item 57042	GRCh38/hg38 19p13.11-q13.11(chr19:17176767-34924150)x3	LOC130064154, LOC130064155 +625 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 42