16447[HGNC] - ClinVar

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Items: 81

	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 2271735	NM_032584.3(ZNF347):c.2499C>G (p.Cys833Trp)	ZNF347 (C834W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195334	NM_032584.3(ZNF347):c.2464G>A (p.Val822Met)	ZNF347 (V822M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2397417	NM_032584.3(ZNF347):c.2365G>A (p.Gly789Arg)	ZNF347 (G790R +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3195333	NM_032584.3(ZNF347):c.2360A>T (p.His787Leu)	ZNF347 (H787L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458508	NM_032584.3(ZNF347):c.2335A>G (p.Lys779Glu)	ZNF347 (K780E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318230	NM_032584.3(ZNF347):c.2258C>A (p.Ala753Glu)	ZNF347 (A753E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195331	NM_032584.3(ZNF347):c.2222A>G (p.Glu741Gly)	ZNF347 (E742G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195330	NM_032584.3(ZNF347):c.2162G>A (p.Arg721His)	ZNF347 (R722H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195328	NM_032584.3(ZNF347):c.2113G>C (p.Gly705Arg)	ZNF347 (G706R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195327	NM_032584.3(ZNF347):c.2066C>T (p.Ala689Val)	ZNF347 (A689V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195326	NM_032584.3(ZNF347):c.2041T>A (p.Tyr681Asn)	ZNF347 (Y681N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355771	NM_032584.3(ZNF347):c.2015G>A (p.Arg672Gln)	ZNF347 (R673Q +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2231962	NM_032584.3(ZNF347):c.2014C>G (p.Arg672Gly)	ZNF347 (R672G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3335571	NM_032584.3(ZNF347):c.2012A>G (p.His671Arg)	ZNF347 (H672R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367427	NM_032584.3(ZNF347):c.2002C>T (p.Leu668Phe)	ZNF347 (L668F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333651	NM_032584.3(ZNF347):c.1909C>T (p.His637Tyr)	ZNF347 (H638Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3335564	NM_032584.3(ZNF347):c.1897G>T (p.Ala633Ser)	ZNF347 (A634S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195325	NM_032584.3(ZNF347):c.1885G>A (p.Glu629Lys)	ZNF347 (E629K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522529	NM_032584.3(ZNF347):c.1859C>T (p.Thr620Ile)	ZNF347 (T621I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3335568	NM_032584.3(ZNF347):c.1842G>C (p.Arg614Ser)	ZNF347 (R615S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510852	NM_032584.3(ZNF347):c.1811A>C (p.Lys604Thr)	ZNF347 (K605T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2623836	NM_032584.3(ZNF347):c.1756A>G (p.Arg586Gly)	ZNF347 (R586G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355724	NM_032584.3(ZNF347):c.1736C>G (p.Thr579Ser)	ZNF347 (T580S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195324	NM_032584.3(ZNF347):c.1724G>T (p.Gly575Val)	ZNF347 (G576V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195323	NM_032584.3(ZNF347):c.1646C>T (p.Ala549Val)	ZNF347 (A549V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289663	NM_032584.3(ZNF347):c.1604A>G (p.His535Arg)	ZNF347 (H535R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195322	NM_032584.3(ZNF347):c.1504A>G (p.Thr502Ala)	ZNF347 (T503A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195321	NM_032584.3(ZNF347):c.1403G>A (p.Arg468His)	ZNF347 (R468H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517857	NM_032584.3(ZNF347):c.1387G>A (p.Gly463Ser)	ZNF347 (G463S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258783	NM_032584.3(ZNF347):c.1330C>G (p.Leu444Val)	ZNF347 (L444V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474133	NM_032584.3(ZNF347):c.1328G>A (p.Ser443Asn)	ZNF347 (S443N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195320	NM_032584.3(ZNF347):c.1322G>A (p.Arg441His)	ZNF347 (R441H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195319	NM_032584.3(ZNF347):c.1316G>A (p.Gly439Asp)	ZNF347 (G439D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3335563	NM_032584.3(ZNF347):c.1271C>G (p.Thr424Ser)	ZNF347 (T424S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3335566	NM_032584.3(ZNF347):c.1235A>G (p.Gln412Arg)	ZNF347 (Q413R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2570377	NM_032584.3(ZNF347):c.1154G>A (p.Arg385His)	ZNF347 (R386H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257741	NM_032584.3(ZNF347):c.1138A>C (p.Lys380Gln)	ZNF347 (K380Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195318	NM_032584.3(ZNF347):c.1108G>A (p.Glu370Lys)	ZNF347 (E370K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195317	NM_032584.3(ZNF347):c.1106G>T (p.Gly369Val)	ZNF347 (G369V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195316	NM_032584.3(ZNF347):c.1082T>C (p.Val361Ala)	ZNF347 (V361A +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3335561	NM_032584.3(ZNF347):c.1073C>T (p.Ser358Leu)	ZNF347 (S359L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2650406	NM_032584.3(ZNF347):c.1042A>G (p.Asn348Asp)	ZNF347 (N348D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2368042	NM_032584.3(ZNF347):c.1040G>A (p.Cys347Tyr)	ZNF347 (C347Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326798	NM_032584.3(ZNF347):c.983G>A (p.Arg328Gln)	ZNF347 (R328Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267793	NM_032584.3(ZNF347):c.955T>G (p.Cys319Gly)	ZNF347 (C319G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3335565	NM_032584.3(ZNF347):c.940G>A (p.Glu314Lys)	ZNF347 (E314K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3335562	NM_032584.3(ZNF347):c.901C>T (p.Arg301Cys)	ZNF347 (R301C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367669	NM_032584.3(ZNF347):c.880T>C (p.Cys294Arg)	ZNF347 (C294R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195339	NM_032584.3(ZNF347):c.870A>C (p.Lys290Asn)	ZNF347 (K291N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195338	NM_032584.3(ZNF347):c.862C>A (p.Pro288Thr)	ZNF347 (P288T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554616	NM_032584.3(ZNF347):c.848A>C (p.His283Pro)	ZNF347 (H284P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3335567	NM_032584.3(ZNF347):c.830C>T (p.Ala277Val)	ZNF347 (A277V +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2273039	NM_032584.3(ZNF347):c.727A>C (p.Ile243Leu)	ZNF347 (I244L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195336	NM_032584.3(ZNF347):c.440A>G (p.Asp147Gly)	ZNF347 (D147G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195335	NM_032584.3(ZNF347):c.437G>T (p.Arg146Ile)	ZNF347 (R147I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3335560	NM_032584.3(ZNF347):c.292A>G (p.Met98Val)	ZNF347 (M99V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3335570	NM_032584.3(ZNF347):c.278C>G (p.Ser93Cys)	ZNF347 (S93C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195332	NM_032584.3(ZNF347):c.226G>A (p.Ala76Thr)	ZNF347 (A77T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195329	NM_032584.3(ZNF347):c.211A>G (p.Ser71Gly)	ZNF347 (S71G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599720	NM_032584.3(ZNF347):c.208G>A (p.Glu70Lys)	ZNF347 (E70K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384855	NM_032584.3(ZNF347):c.169A>C (p.Ile57Leu)	ZNF347 (I57L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2567170	NM_032584.3(ZNF347):c.130C>G (p.Leu44Val)	ZNF347 (L44V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195337	NM_032584.3(ZNF347):c.82G>A (p.Ala28Thr)	ZNF347 (A28T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410407	NM_032584.3(ZNF347):c.76G>A (p.Asp26Asn)	ZNF347 (D26N)	Single nucleotide variant (missense variant)	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 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 226267	GRCh37/hg19 19q13.42(chr19:53647182-53693873)	ZNF347, ZNF665	Copy number gain	Abnormal esophagus morphology	GLikely benign

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Items: 81