ZNF749[gene] - ClinVar

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Items: 82

	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 153557	GRCh38/hg38 19q13.43(chr19:56353449-58445521)x3	A1BG, A1BG-AS1 +179 more	Copy number gain	See cases	GUncertain significance
Select item 59128	GRCh38/hg38 19q13.43(chr19:56363208-58581203)x3	A1BG, A1BG-AS1 +215 more	Copy number gain	See cases	GPathogenic
Select item 3259411	NM_001023561.4(ZNF749):c.32A>G (p.Glu11Gly)	ZNF749 (E4G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2514753	NM_001023561.4(ZNF749):c.86A>T (p.Gln29Leu)	ZNF749 (Q29L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3198112	NM_001023561.4(ZNF749):c.92A>C (p.His31Pro)	ZNF749 (H31P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2208742	NM_001023561.4(ZNF749):c.162G>C (p.Lys54Asn)	ZNF749 (K54N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3198107	NM_001023561.4(ZNF749):c.217A>G (p.Ile73Val)	ZNF749 (I66V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2551218	NM_001023561.4(ZNF749):c.263T>C (p.Met88Thr)	ZNF749 (M1T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3198110	NM_001023561.4(ZNF749):c.283G>A (p.Asp95Asn)	ZNF749 (D8N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255483	NM_001023561.4(ZNF749):c.316C>T (p.His106Tyr)	ZNF749 (H19Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2621770	NM_001023561.4(ZNF749):c.338C>T (p.Thr113Ile)	ZNF749 (T106I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490749	NM_001023561.4(ZNF749):c.460T>C (p.Cys154Arg)	ZNF749 (C147R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558495	NM_001023561.4(ZNF749):c.467A>T (p.Gln156Leu)	ZNF749 (Q149L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282701	NM_001023561.4(ZNF749):c.482T>C (p.Phe161Ser)	ZNF749 (F154S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588395	NM_001023561.4(ZNF749):c.522C>A (p.Asn174Lys)	ZNF749 (N167K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327078	NM_001023561.4(ZNF749):c.523A>G (p.Ser175Gly)	ZNF749 (S175G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3259403	NM_001023561.4(ZNF749):c.592T>C (p.Ser198Pro)	ZNF749 (S191P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547843	NM_001023561.4(ZNF749):c.629G>A (p.Gly210Glu)	ZNF749 (G123E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559866	NM_001023561.4(ZNF749):c.634T>A (p.Phe212Ile)	ZNF749 (F212I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616414	NM_001023561.4(ZNF749):c.667C>G (p.Pro223Ala)	ZNF749 (P136A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469517	NM_001023561.4(ZNF749):c.704A>G (p.Tyr235Cys)	ZNF749 (Y148C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457849	NM_001023561.4(ZNF749):c.713A>G (p.Asn238Ser)	ZNF749 (N151S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216525	NM_001023561.4(ZNF749):c.846G>T (p.Arg282Ser)	ZNF749 (R195S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509071	NM_001023561.4(ZNF749):c.907T>C (p.Cys303Arg)	ZNF749 (C296R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3259407	NM_001023561.4(ZNF749):c.986A>G (p.Asn329Ser)	ZNF749 (N329S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255316	NM_001023561.4(ZNF749):c.1006A>T (p.Met336Leu)	ZNF749 (M249L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3259406	NM_001023561.4(ZNF749):c.1030C>T (p.His344Tyr)	ZNF749 (H344Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198094	NM_001023561.4(ZNF749):c.1039G>A (p.Val347Ile)	ZNF749 (V347I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248040	NM_001023561.4(ZNF749):c.1063G>A (p.Glu355Lys)	ZNF749 (E268K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232270	NM_001023561.4(ZNF749):c.1145T>C (p.Phe382Ser)	ZNF749 (F295S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547225	NM_001023561.4(ZNF749):c.1166A>G (p.Lys389Arg)	ZNF749 (K302R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588603	NM_001023561.4(ZNF749):c.1180C>T (p.Arg394Cys)	ZNF749 (R394C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198095	NM_001023561.4(ZNF749):c.1184C>T (p.Ser395Phe)	ZNF749 (S395F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352294	NM_001023561.4(ZNF749):c.1251A>C (p.Lys417Asn)	ZNF749 (K417N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3259408	NM_001023561.4(ZNF749):c.1288A>G (p.Lys430Glu)	ZNF749 (K423E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198096	NM_001023561.4(ZNF749):c.1321A>G (p.Thr441Ala)	ZNF749 (T434A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463034	NM_001023561.4(ZNF749):c.1384G>A (p.Asp462Asn)	ZNF749 (D455N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198097	NM_001023561.4(ZNF749):c.1424G>T (p.Arg475Met)	ZNF749 (R475M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381528	NM_001023561.4(ZNF749):c.1487C>T (p.Ala496Val)	ZNF749 (A409V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3259410	NM_001023561.4(ZNF749):c.1574A>G (p.His525Arg)	ZNF749 (H438R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198098	NM_001023561.4(ZNF749):c.1586A>G (p.His529Arg)	ZNF749 (H529R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555312	NM_001023561.4(ZNF749):c.1594A>G (p.Ile532Val)	ZNF749 (I445V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198099	NM_001023561.4(ZNF749):c.1708C>T (p.His570Tyr)	ZNF749 (H483Y +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2243917	NM_001023561.4(ZNF749):c.1725G>T (p.Gln575His)	ZNF749 (Q488H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274084	NM_001023561.4(ZNF749):c.1745G>A (p.Arg582Gln)	ZNF749 (R582Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198100	NM_001023561.4(ZNF749):c.1760A>G (p.Asn587Ser)	ZNF749 (N580S +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2548678	NM_001023561.4(ZNF749):c.1805A>G (p.His602Arg)	ZNF749 (H515R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198101	NM_001023561.4(ZNF749):c.1831C>G (p.Pro611Ala)	ZNF749 (P524A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515114	NM_001023561.4(ZNF749):c.1870C>T (p.Arg624Cys)	ZNF749 (R624C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3259405	NM_001023561.4(ZNF749):c.1871G>A (p.Arg624His)	ZNF749 (R624H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198102	NM_001023561.4(ZNF749):c.1887A>C (p.Arg629Ser)	ZNF749 (R622S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198103	NM_001023561.4(ZNF749):c.1930G>C (p.Glu644Gln)	ZNF749 (E637Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198104	NM_001023561.4(ZNF749):c.1942T>G (p.Phe648Val)	ZNF749 (F561V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207852	NM_001023561.4(ZNF749):c.2044A>G (p.Thr682Ala)	ZNF749 (T595A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285117	NM_001023561.4(ZNF749):c.2059C>T (p.His687Tyr)	ZNF749 (H680Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198105	NM_001023561.4(ZNF749):c.2119A>T (p.Thr707Ser)	ZNF749 (T700S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198106	NM_001023561.4(ZNF749):c.2136T>G (p.Ile712Met)	ZNF749 (I705M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198108	NM_001023561.4(ZNF749):c.2209A>C (p.Asn737His)	ZNF749 (N650H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362260	NM_001023561.4(ZNF749):c.2222G>A (p.Arg741His)	ZNF749 (R734H +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3198109	NM_001023561.4(ZNF749):c.2234A>G (p.His745Arg)	ZNF749 (H658R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3259409	NM_001023561.4(ZNF749):c.2239G>A (p.Gly747Arg)	ZNF749 (G660R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480178	NM_001023561.4(ZNF749):c.2264A>C (p.Glu755Ala)	ZNF749 (E668A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3259404	NM_001023561.4(ZNF749):c.2333C>T (p.Pro778Leu)	ZNF749 (P778L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 685397	GRCh37/hg19 19q13.43(chr19:57952073-58661581)x3	C19orf18, VN1R1 +29 more	Copy number gain	not provided	GUncertain significance
Select item 564606	GRCh37/hg19 19q13.42-13.43(chr19:54196216-58759679)x3	ZNF548, ZNF549 +157 more	Copy number gain	not provided	GPathogenic
Select item 564595	GRCh37/hg19 19q13.43(chr19:57891243-58536930)x3	ZNF814, ZSCAN4 +27 more	Copy number gain	not provided	GLikely benign
Select item 564590	GRCh37/hg19 19q13.43(chr19:57718739-58058739)x1	VN1R1, AURKC +14 more	Copy number loss	not provided	GUncertain significance
Select item 560105	Single allele	ZNF805, ZNF17 +11 more	Duplication	not provided	GUncertain significance
Select item 560059	Single allele	VN1R1, ZIK1 +12 more	Duplication	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 442403	GRCh37/hg19 19q13.43(chr19:56706500-58956888)x3	A1BG, AURKC +64 more	Copy number gain	See cases	GUncertain significance
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: 82