ZNF765[gene] - ClinVar

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Items: 57

	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 144709	GRCh38/hg38 19q13.41-13.43(chr19:52955056-58581203)x3	TMC4, TMEM150B +537 more	Copy number gain	See cases	GPathogenic
Select item 3259442	NM_001040185.3(ZNF765):c.86A>G (p.Gln29Arg)	ZNF765, ZNF765-ZNF761 (Q29R)	Single nucleotide variant (5 prime UTR variant +3 more)	not specified	GUncertain significance
Select item 2622097	NM_001040185.3(ZNF765):c.103G>C (p.Asp35His)	ZNF765, ZNF765-ZNF761 (D35H)	Single nucleotide variant (5 prime UTR variant +3 more)	not specified	GUncertain significance
Select item 3198171	NM_001040185.3(ZNF765):c.106G>T (p.Val36Leu)	ZNF765, ZNF765-ZNF761 (V36L)	Single nucleotide variant (5 prime UTR variant +3 more)	not specified	GUncertain significance
Select item 2548829	NM_001040185.3(ZNF765):c.164T>C (p.Met55Thr)	ZNF765, ZNF765-ZNF761 (M2T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2458114	NM_001040185.3(ZNF765):c.209A>G (p.His70Arg)	ZNF765, ZNF765-ZNF761 (H70R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2313579	NM_001040185.3(ZNF765):c.283C>A (p.His95Asn)	ZNF765, ZNF765-ZNF761 (H42N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3198176	NM_001040185.3(ZNF765):c.290T>C (p.Ile97Thr)	ZNF765, ZNF765-ZNF761 (I44T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2536852	NM_001040185.3(ZNF765):c.323G>T (p.Gly108Val)	ZNF765, ZNF765-ZNF761 (G108V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2248930	NM_001040185.3(ZNF765):c.374G>A (p.Arg125Gln)	ZNF765, ZNF765-ZNF761 (R125Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2492114	NM_001040185.3(ZNF765):c.397A>T (p.Asn133Tyr)	ZNF765, ZNF765-ZNF761 (N80Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3198177	NM_001040185.3(ZNF765):c.418C>G (p.Leu140Val)	ZNF765, ZNF765-ZNF761 (L87V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3198178	NM_001040185.3(ZNF765):c.575A>G (p.Tyr192Cys)	ZNF765, ZNF765-ZNF761 (Y139C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2394277	NM_001040185.3(ZNF765):c.578G>T (p.Gly193Val)	ZNF765, ZNF765-ZNF761 (G193V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2555932	NM_001040185.3(ZNF765):c.589C>G (p.Leu197Val)	ZNF765, ZNF765-ZNF761 (L197V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2298891	NM_001040185.3(ZNF765):c.694A>G (p.Lys232Glu)	ZNF765, ZNF765-ZNF761 (K232E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3198179	NM_001040185.3(ZNF765):c.745G>C (p.Gly249Arg)	ZNF765, ZNF765-ZNF761 (G196R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2593480	NM_001040185.3(ZNF765):c.772G>A (p.Val258Ile)	ZNF765, ZNF765-ZNF761 (V258I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3259445	NM_001040185.3(ZNF765):c.779G>A (p.Arg260His)	ZNF765, ZNF765-ZNF761 (R207H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2345868	NM_001040185.3(ZNF765):c.868C>T (p.Arg290Cys)	ZNF765, ZNF765-ZNF761 (R237C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3198180	NM_001040185.3(ZNF765):c.869G>A (p.Arg290His)	ZNF765, ZNF765-ZNF761 (R237H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3259448	NM_001040185.3(ZNF765):c.883G>A (p.Gly295Arg)	ZNF765, ZNF765-ZNF761 (G242R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3259444	NM_001040185.3(ZNF765):c.886G>C (p.Glu296Gln)	ZNF765, ZNF765-ZNF761 (E243Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3198181	NM_001040185.3(ZNF765):c.915C>G (p.Asp305Glu)	ZNF765, ZNF765-ZNF761 (D305E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3259446	NM_001040185.3(ZNF765):c.928T>A (p.Phe310Ile)	ZNF765, ZNF765-ZNF761 (F257I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3198182	NM_001040185.3(ZNF765):c.934T>C (p.Ser312Pro)	ZNF765, ZNF765-ZNF761 (S312P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2517065	NM_001040185.3(ZNF765):c.950A>G (p.His317Arg)	ZNF765, ZNF765-ZNF761 (H264R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2480752	NM_001040185.3(ZNF765):c.959T>C (p.Ile320Thr)	ZNF765, ZNF765-ZNF761 (I320T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3259443	NM_001040185.3(ZNF765):c.989A>G (p.Asn330Ser)	ZNF765, ZNF765-ZNF761 (N330S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2411051	NM_001040185.3(ZNF765):c.1037G>A (p.Arg346His)	ZNF765, ZNF765-ZNF761 (R293H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2235640	NM_001040185.3(ZNF765):c.1126G>C (p.Val376Leu)	ZNF765, ZNF765-ZNF761 (V376L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2569084	NM_001040185.3(ZNF765):c.1204C>T (p.Arg402Cys)	ZNF765, ZNF765-ZNF761 (R349C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2368430	NM_001040185.3(ZNF765):c.1210C>T (p.Leu404Phe)	ZNF765, ZNF765-ZNF761 (L351F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3198172	NM_001040185.3(ZNF765):c.1213C>A (p.His405Asn)	ZNF765, ZNF765-ZNF761 (H352N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3198173	NM_001040185.3(ZNF765):c.1237T>G (p.Cys413Gly)	ZNF765, ZNF765-ZNF761 (C413G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3259447	NM_001040185.3(ZNF765):c.1309C>T (p.Pro437Ser)	ZNF765, ZNF765-ZNF761 (P384S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3198174	NM_001040185.3(ZNF765):c.1421C>A (p.Thr474Asn)	ZNF765, ZNF765-ZNF761 (T421N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3198175	NM_001040185.3(ZNF765):c.1491A>C (p.Glu497Asp)	ZNF765, ZNF765-ZNF761 (E497D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2294839	NM_001040185.3(ZNF765):c.1498G>A (p.Asp500Asn)	ZNF765, ZNF765-ZNF761 (D447N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2266268	NM_001040185.3(ZNF765):c.1567G>A (p.Val523Met)	ZNF765, ZNF765-ZNF761 (V523M +1 more)	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 816091	GRCh37/hg19 19q13.42(chr19:53895878-53972664)x1	ZNF765, ZNF813 +1 more	Copy number loss	not provided	GLikely benign
Select item 816090	GRCh37/hg19 19q13.42(chr19:53762536-53953261)x1	ZNF761, ZNF765 +3 more	Copy number loss	not provided	GUncertain significance
Select item 564602	GRCh37/hg19 19q13.42(chr19:53867570-55833460)x3	BRSK1, CACNG6 +68 more	Copy number gain	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 394342	GRCh37/hg19 19q13.33-13.43(chr19:50489390-59095359)x3	A1BG, ACP4 +280 more	Copy number gain	See cases	GPathogenic

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Items: 57