147694[Gene ID] - ClinVar

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Items: 44

	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 3258635	NM_001172773.2(ZNF548):c.52G>A (p.Gly18Ser)	ZNF548 (G18S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527199	NM_001172773.2(ZNF548):c.131T>G (p.Leu44Arg)	ZNF548 (L32R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304275	NM_001172773.2(ZNF548):c.136C>T (p.Arg46Cys)	ZNF548 (R34C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261359	NM_001172773.2(ZNF548):c.173C>T (p.Ser58Leu)	ZNF548 (S46L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217595	NM_001172773.2(ZNF548):c.344A>G (p.Asn115Ser)	ZNF548 (N103S +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2369170	NM_001172773.2(ZNF548):c.347G>A (p.Gly116Glu)	ZNF548 (G104E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281254	NM_001172773.2(ZNF548):c.352C>A (p.His118Asn)	ZNF548 (H118N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196623	NM_001172773.2(ZNF548):c.356C>T (p.Pro119Leu)	ZNF548 (P107L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277062	NM_001172773.2(ZNF548):c.565G>A (p.Glu189Lys)	ZNF548 (E189K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266319	NM_001172773.2(ZNF548):c.611C>A (p.Thr204Asn)	ZNF548 (T192N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278523	NM_001172773.2(ZNF548):c.672T>G (p.Phe224Leu)	ZNF548 (F224L +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2340837	NM_001172773.2(ZNF548):c.715T>G (p.Cys239Gly)	ZNF548 (C227G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274487	NM_001172773.2(ZNF548):c.775C>T (p.His259Tyr)	ZNF548 (H247Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351546	NM_001172773.2(ZNF548):c.887A>G (p.Asn296Ser)	ZNF548 (N296S +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2570393	NM_001172773.2(ZNF548):c.923T>G (p.Phe308Cys)	ZNF548 (F296C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244565	NM_001172773.2(ZNF548):c.987C>A (p.Phe329Leu)	ZNF548 (F317L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277874	NM_001172773.2(ZNF548):c.1061G>C (p.Cys354Ser)	ZNF548 (C342S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479379	NM_001172773.2(ZNF548):c.1141G>A (p.Val381Ile)	ZNF548 (V381I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332205	NM_001172773.2(ZNF548):c.1163A>G (p.Tyr388Cys)	ZNF548 (Y376C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331841	NM_001172773.2(ZNF548):c.1217A>G (p.Lys406Arg)	ZNF548 (K394R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407809	NM_001172773.2(ZNF548):c.1309G>A (p.Glu437Lys)	ZNF548 (E437K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305080	NM_001172773.2(ZNF548):c.1470G>T (p.Glu490Asp)	ZNF548 (E478D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317574	NM_001172773.2(ZNF548):c.1537G>A (p.Glu513Lys)	ZNF548 (E501K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3258636	NM_001172773.2(ZNF548):c.1550T>G (p.Val517Gly)	ZNF548 (V517G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196622	NM_001172773.2(ZNF548):c.1603A>G (p.Ile535Val)	ZNF548 (I523V +1 more)	Single nucleotide variant (missense variant)	not specified	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 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: 44