ClinVar for Gene (Select 113835) - ClinVar

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Links from Gene

Items: 49

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3335274	NM_033468.4(ZNF257):c.494T>C (p.Ile165Thr)	ZNF257 (I133T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3335273	NM_033468.4(ZNF257):c.1493G>T (p.Arg498Leu)	ZNF257 (R498L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3335272	NM_033468.4(ZNF257):c.1492C>G (p.Arg498Gly)	ZNF257 (R466G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3335271	NM_033468.4(ZNF257):c.1288C>A (p.Pro430Thr)	ZNF257 (P398T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3335270	NM_033468.4(ZNF257):c.1628A>G (p.Asn543Ser)	ZNF257 (N467S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194719	NM_033468.4(ZNF257):c.739C>A (p.His247Asn)	ZNF257 (H247N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194718	NM_033468.4(ZNF257):c.619G>A (p.Gly207Ser)	ZNF257 (G175S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194717	NM_033468.4(ZNF257):c.291A>T (p.Lys97Asn)	ZNF257 (K65N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194715	NM_033468.4(ZNF257):c.1373C>T (p.Pro458Leu)	ZNF257 (P382L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194714	NM_033468.4(ZNF257):c.1085A>G (p.His362Arg)	ZNF257 (H286R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2618494	NM_033468.4(ZNF257):c.157A>G (p.Ile53Val)	ZNF257 (I53V +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2608078	NM_033468.4(ZNF257):c.1687T>C (p.Ser563Pro)	ZNF257 (S563P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554936	NM_033468.4(ZNF257):c.1680A>T (p.Lys560Asn)	ZNF257 (K484N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548305	NM_033468.4(ZNF257):c.1249A>C (p.Thr417Pro)	ZNF257 (T385P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545244	NM_033468.4(ZNF257):c.968A>C (p.Lys323Thr)	ZNF257 (K247T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483117	NM_033468.4(ZNF257):c.1423A>T (p.Thr475Ser)	ZNF257 (T399S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472148	NM_033468.4(ZNF257):c.1561G>T (p.Gly521Cys)	ZNF257 (G445C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459592	NM_033468.4(ZNF257):c.1384G>A (p.Glu462Lys)	ZNF257 (E386K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457627	NM_033468.4(ZNF257):c.1444A>G (p.Thr482Ala)	ZNF257 (T450A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454682	NM_033468.4(ZNF257):c.169G>C (p.Glu57Gln)	ZNF257 (E25Q +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2404780	NM_033468.4(ZNF257):c.364G>C (p.Glu122Gln)	ZNF257 (E90Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370514	NM_033468.4(ZNF257):c.1558T>C (p.Cys520Arg)	ZNF257 (C444R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368562	NM_033468.4(ZNF257):c.487C>T (p.His163Tyr)	ZNF257 (H163Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345295	NM_033468.4(ZNF257):c.1492C>T (p.Arg498Trp)	ZNF257 (R422W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339857	NM_033468.4(ZNF257):c.886T>C (p.Trp296Arg)	ZNF257 (W220R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330996	NM_033468.4(ZNF257):c.1355T>C (p.Ile452Thr)	ZNF257 (I376T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328690	NM_033468.4(ZNF257):c.145A>G (p.Lys49Glu)	ZNF257 (K17E +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2306265	NM_033468.4(ZNF257):c.347G>A (p.Gly116Asp)	ZNF257 (G40D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302552	NM_033468.4(ZNF257):c.836A>T (p.His279Leu)	ZNF257 (H279L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290123	NM_033468.4(ZNF257):c.290A>T (p.Lys97Ile)	ZNF257 (K21I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232658	NM_033468.4(ZNF257):c.18T>G (p.Ile6Met)	ZNF257 (I6M)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2232329	NM_033468.4(ZNF257):c.139G>C (p.Val47Leu)	ZNF257 (V15L +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2227200	NM_033468.4(ZNF257):c.1609C>T (p.His537Tyr)	ZNF257 (H461Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213001	NM_033468.4(ZNF257):c.440G>A (p.Cys147Tyr)	ZNF257 (C115Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1341123	GRCh37/hg19 19p12(chr19:21856925-22415702)x3	ZNF100, ZNF208 +3 more	Copy number gain	not provided	GLikely benign
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 816522	GRCh37/hg19 19p12(chr19:22208751-23199700)x3	ZNF257, ZNF492 +5 more	Copy number gain	See cases	GLikely benign
Select item 816071	GRCh37/hg19 19p12(chr19:21717186-23008275)x3	ZNF100, ZNF208 +8 more	Copy number gain	not provided	GLikely benign
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 147522	GRCh38/hg38 19p13.12-12(chr19:15133594-24193591)x3	ABHD8, AKAP8 +574 more	Copy number gain	See cases	GPathogenic
Select item 146659	GRCh38/hg38 19p12(chr19:22071063-22118991)x1	ZNF257	Copy number loss	See cases	GBenign
Select item 146475	GRCh38/hg38 19p12(chr19:21591877-22802732)x3	ZNF100, LINC01233 +13 more	Copy number gain	See cases	GUncertain significance
Select item 145763	GRCh38/hg38 19p12(chr19:21591877-22830542)x3	LINC01233, LINC01785 +14 more	Copy number gain	See cases	GBenign
Select item 145093	GRCh38/hg38 19p12(chr19:21591877-22802673)x3	LINC01233, LINC01785 +13 more	Copy number gain	See cases	GBenign
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

ClinVar

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Germline classification

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Links from Gene

Items: 49