12948[HGNC] - ClinVar

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Items: 75

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59116	GRCh38/hg38 19q13.33-13.43(chr19:47908540-58539965)x3	LOC130064925, LOC130064926 +1081 more	Copy number gain	See cases	GPathogenic
Select item 59117	GRCh38/hg38 19q13.33-13.43(chr19:47929575-58572206)x3	LOC130064903, LOC130064904 +1093 more	Copy number gain	See cases	GPathogenic
Select item 59126	GRCh38/hg38 19q13.33-13.43(chr19:49907832-58557889)x3	LOC130065082, LOC130065083 +806 more	Copy number gain	See cases	GPathogenic
Select item 146579	GRCh38/hg38 19q13.33-13.43(chr19:50152520-58581203)x3	OSCAR, PEG3 +782 more	Copy number gain	See cases	GPathogenic
Select item 57219	GRCh38/hg38 19q13.33-13.43(chr19:50191219-58535818)x3	LOC130065034, LOC130065035 +761 more	Copy number gain	See cases	GPathogenic
Select item 59127	GRCh38/hg38 19q13.41-13.43(chr19:51141518-58539965)x3	A1BG, A1BG-AS1 +647 more	Copy number gain	See cases	GPathogenic
Select item 153721	GRCh38/hg38 19q13.41-13.43(chr19:52143873-58445521)x3	A1BG, A1BG-AS1 +547 more	Copy number gain	See cases	GPathogenic
Select item 144762	GRCh38/hg38 19q13.41-13.43(chr19:52612432-58581203)x3	SSC5D, SYT5 +553 more	Copy number gain	See cases	GPathogenic
Select item 58343	GRCh38/hg38 19q13.41-13.42(chr19:52707235-53192628)x1	ERVFRD-2, ERVV-1 +23 more	Copy number loss	See cases	GUncertain significance
Select item 144709	GRCh38/hg38 19q13.41-13.43(chr19:52955056-58581203)x3	TMC4, TMEM150B +537 more	Copy number gain	See cases	GPathogenic
Select item 2471861	NM_001322131.2(ZNF160):c.2445A>C (p.Lys815Asn)	ZNF160 (K815N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376042	NM_001322131.2(ZNF160):c.2441A>G (p.Glu814Gly)	ZNF160 (E814G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393391	NM_001322131.2(ZNF160):c.2426G>A (p.Arg809Lys)	ZNF160 (R773K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2560828	NM_001322131.2(ZNF160):c.2387A>G (p.Lys796Arg)	ZNF160 (K796R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218554	NM_001322131.2(ZNF160):c.2374A>G (p.Asn792Asp)	ZNF160 (N756D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217463	NM_001322131.2(ZNF160):c.2363G>A (p.Arg788His)	ZNF160 (R752H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346072	NM_001322131.2(ZNF160):c.2342C>T (p.Ala781Val)	ZNF160 (A781V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403177	NM_001322131.2(ZNF160):c.2291C>G (p.Thr764Arg)	ZNF160 (T728R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3335018	NM_001322131.2(ZNF160):c.2288G>A (p.Cys763Tyr)	ZNF160 (C763Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240813	NM_001322131.2(ZNF160):c.2255G>A (p.Arg752Gln)	ZNF160 (R752Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194147	NM_001322131.2(ZNF160):c.2222T>G (p.Val741Gly)	ZNF160 (V741G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212840	NM_001322131.2(ZNF160):c.2150G>A (p.Arg717His)	ZNF160 (R717H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234072	NM_001322131.2(ZNF160):c.2134A>G (p.Lys712Glu)	ZNF160 (K676E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194146	NM_001322131.2(ZNF160):c.2123A>G (p.Asn708Ser)	ZNF160 (N672S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194144	NM_001322131.2(ZNF160):c.2110C>G (p.Pro704Ala)	ZNF160 (P668A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194143	NM_001322131.2(ZNF160):c.2108A>G (p.Lys703Arg)	ZNF160 (K667R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2621449	NM_001322131.2(ZNF160):c.2047G>C (p.Gly683Arg)	ZNF160 (G683R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242776	NM_001322131.2(ZNF160):c.1934G>T (p.Gly645Val)	ZNF160 (G609V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556218	NM_001322131.2(ZNF160):c.1922G>A (p.Arg641Gln)	ZNF160 (R605Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194142	NM_001322131.2(ZNF160):c.1919G>A (p.Arg640Gln)	ZNF160 (R640Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194141	NM_001322131.2(ZNF160):c.1814G>A (p.Arg605His)	ZNF160 (R605H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2619831	NM_001322131.2(ZNF160):c.1775C>G (p.Pro592Arg)	ZNF160 (P592R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3335013	NM_001322131.2(ZNF160):c.1723G>A (p.Ala575Thr)	ZNF160 (A575T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194140	NM_001322131.2(ZNF160):c.1640C>T (p.Thr547Ile)	ZNF160 (T511I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597382	NM_001322131.2(ZNF160):c.1607C>G (p.Pro536Arg)	ZNF160 (P500R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3335020	NM_001322131.2(ZNF160):c.1606C>A (p.Pro536Thr)	ZNF160 (P536T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219456	NM_001322131.2(ZNF160):c.1604A>G (p.Lys535Arg)	ZNF160 (K499R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360080	NM_001322131.2(ZNF160):c.1568G>T (p.Ser523Ile)	ZNF160 (S523I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468538	NM_001322131.2(ZNF160):c.1562G>A (p.Arg521His)	ZNF160 (R521H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334354	NM_001322131.2(ZNF160):c.1550C>A (p.Ala517Asp)	ZNF160 (A481D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194138	NM_001322131.2(ZNF160):c.1463A>G (p.Lys488Arg)	ZNF160 (K452R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2569669	NM_001322131.2(ZNF160):c.1331G>A (p.Arg444Gln)	ZNF160 (R408Q +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2515978	NM_001322131.2(ZNF160):c.1330C>T (p.Arg444Trp)	ZNF160 (R408W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2650404	NM_001322131.2(ZNF160):c.1305G>A (p.Arg435=)	ZNF160	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3335016	NM_001322131.2(ZNF160):c.1199A>G (p.Asn400Ser)	ZNF160 (N364S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292398	NM_001322131.2(ZNF160):c.1136C>T (p.Thr379Ile)	ZNF160 (T343I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355191	NM_001322131.2(ZNF160):c.1129C>T (p.Leu377Phe)	ZNF160 (L377F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516039	NM_001322131.2(ZNF160):c.901A>G (p.Thr301Ala)	ZNF160 (T301A +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3335014	NM_001322131.2(ZNF160):c.889C>T (p.Arg297Cys)	ZNF160 (R261C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3335015	NM_001322131.2(ZNF160):c.874A>C (p.Lys292Gln)	ZNF160 (K292Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3335017	NM_001322131.2(ZNF160):c.871G>A (p.Gly291Ser)	ZNF160 (G255S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603552	NM_001322131.2(ZNF160):c.845A>T (p.Glu282Val)	ZNF160 (E246V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2650405	NM_001322131.2(ZNF160):c.645C>T (p.Ser215=)	ZNF160	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2348439	NM_001322131.2(ZNF160):c.578A>G (p.Gln193Arg)	ZNF160 (Q157R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3335019	NM_001322131.2(ZNF160):c.529A>G (p.Met177Val)	ZNF160 (M177V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313023	NM_001322131.2(ZNF160):c.496C>G (p.Gln166Glu)	ZNF160 (Q166E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194151	NM_001322131.2(ZNF160):c.476A>G (p.Gln159Arg)	ZNF160 (Q159R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536501	NM_001322131.2(ZNF160):c.448G>A (p.Gly150Arg)	ZNF160 (G114R +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2530112	NM_001322131.2(ZNF160):c.445A>G (p.Thr149Ala)	ZNF160 (T113A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513336	NM_001322131.2(ZNF160):c.384C>G (p.Asp128Glu)	ZNF160 (D128E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234827	NM_001322131.2(ZNF160):c.368G>A (p.Ser123Asn)	ZNF160 (S87N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398879	NM_001322131.2(ZNF160):c.326C>T (p.Thr109Ile)	ZNF160 (T73I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297679	NM_001322131.2(ZNF160):c.213C>G (p.Ser71Arg)	ZNF160 (S35R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194145	NM_001322131.2(ZNF160):c.211A>C (p.Ser71Arg)	ZNF160 (S71R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2412174	NM_001322131.2(ZNF160):c.106G>A (p.Val36Met)	ZNF160 (V36M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3194149	NM_001322131.2(ZNF160):c.24G>C (p.Leu8Phe)	ZNF160 (L8F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2594358	NM_001322131.2(ZNF160):c.20G>A (p.Arg7Gln)	ZNF160 (R7Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2684892	GRCh37/hg19 19q13.33-13.43(chr19:49625130-57647352)x3	ACP4, ADM5 +261 more	Copy number gain	not provided	GLikely pathogenic
Select item 980768	GRCh37/hg19 19q13.33-13.43(chr19:48463931-57095254)x3	PPP1R15A, PPP2R1A +308 more	Copy number gain	not provided	GPathogenic
Select item 972980	GRCh37/hg19 19q13.32-13.42(chr19:47939842-54626871)	GRIN2D, GRWD1 +228 more	Copy number gain	not provided	Gnot provided
Select item 816084	GRCh37/hg19 19q13.31-13.42(chr19:44738088-53621561)x3	C5AR1, C5AR2 +293 more	Copy number gain	not provided	GPathogenic
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 394342	GRCh37/hg19 19q13.33-13.43(chr19:50489390-59095359)x3	A1BG, ACP4 +280 more	Copy number gain	See cases	GPathogenic
Select item 393726	GRCh37/hg19 19q13.42(chr19:53606604-53636067)x3	ZNF160, ZNF415	Copy number gain	See cases	GBenign

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Items: 75