ZSCAN1[gene] - ClinVar

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Items: 50

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59116	GRCh38/hg38 19q13.33-13.43(chr19:47908540-58539965)x3	ZBTB45, ZFP28 +1081 more	Copy number gain	See cases	GPathogenic
Select item 59117	GRCh38/hg38 19q13.33-13.43(chr19:47929575-58572206)x3	LOC130064933, LOC130064934 +1093 more	Copy number gain	See cases	GPathogenic
Select item 59126	GRCh38/hg38 19q13.33-13.43(chr19:49907832-58557889)x3	LOC113939975, LOC116286194 +806 more	Copy number gain	See cases	GPathogenic
Select item 146579	GRCh38/hg38 19q13.33-13.43(chr19:50152520-58581203)x3	MIR498, MIR512-1 +782 more	Copy number gain	See cases	GPathogenic
Select item 57219	GRCh38/hg38 19q13.33-13.43(chr19:50191219-58535818)x3	LOC130065070, LOC130065071 +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	A1BG, A1BG-AS1 +553 more	Copy number gain	See cases	GPathogenic
Select item 144709	GRCh38/hg38 19q13.41-13.43(chr19:52955056-58581203)x3	LOC130065086, LOC130065087 +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 2209109	NM_182572.4(ZSCAN1):c.10C>T (p.Arg4Trp)	ZSCAN1 (R4W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2392206	NM_182572.4(ZSCAN1):c.37C>T (p.Arg13Cys)	ZSCAN1 (R13C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2460340	NM_182572.4(ZSCAN1):c.70G>A (p.Ala24Thr)	ZSCAN1 (A24T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2486651	NM_182572.4(ZSCAN1):c.79G>A (p.Gly27Arg)	ZSCAN1 (G27R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 783854	NM_182572.4(ZSCAN1):c.168G>A (p.Leu56=)	ZSCAN1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2622797	NM_182572.4(ZSCAN1):c.191G>T (p.Arg64Leu)	ZSCAN1 (R64L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2308526	NM_182572.4(ZSCAN1):c.194A>T (p.Gln65Leu)	ZSCAN1 (Q65L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2457123	NM_182572.4(ZSCAN1):c.357G>A (p.Met119Ile)	ZSCAN1 (M119I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2351742	NM_182572.4(ZSCAN1):c.389C>T (p.Ser130Leu)	ZSCAN1 (S130L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2478397	NM_182572.4(ZSCAN1):c.404A>G (p.Asp135Gly)	ZSCAN1 (D135G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2301915	NM_182572.4(ZSCAN1):c.415G>C (p.Gly139Arg)	ZSCAN1 (G139R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2339381	NM_182572.4(ZSCAN1):c.457C>T (p.Pro153Ser)	ZSCAN1 (P153S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2316214	NM_182572.4(ZSCAN1):c.589G>A (p.Ala197Thr)	ZSCAN1 (A197T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2591525	NM_182572.4(ZSCAN1):c.610C>T (p.Arg204Trp)	ZSCAN1 (R204W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2305419	NM_182572.4(ZSCAN1):c.769C>G (p.Gln257Glu)	ZSCAN1 (Q257E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2356703	NM_182572.4(ZSCAN1):c.775G>A (p.Gly259Ser)	ZSCAN1 (G259S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2215648	NM_182572.4(ZSCAN1):c.803C>A (p.Thr268Asn)	ZSCAN1 (T268N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2622450	NM_182572.4(ZSCAN1):c.851G>A (p.Arg284His)	ZSCAN1 (R284H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2336284	NM_182572.4(ZSCAN1):c.871C>T (p.Pro291Ser)	ZSCAN1 (P291S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2602081	NM_182572.4(ZSCAN1):c.943C>T (p.Arg315Cys)	ZSCAN1 (R315C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2382982	NM_182572.4(ZSCAN1):c.962C>T (p.Pro321Leu)	ZSCAN1 (P321L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2469602	NM_182572.4(ZSCAN1):c.995A>G (p.Asn332Ser)	ZSCAN1 (N332S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2225137	NM_182572.4(ZSCAN1):c.1036C>G (p.Pro346Ala)	ZSCAN1 (P346A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2343053	NM_182572.4(ZSCAN1):c.1040C>T (p.Pro347Leu)	ZSCAN1 (P347L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2374759	NM_182572.4(ZSCAN1):c.1058G>A (p.Arg353Gln)	ZSCAN1 (R353Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2391493	NM_182572.4(ZSCAN1):c.1081G>A (p.Val361Ile)	ZSCAN1 (V361I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2291099	NM_182572.4(ZSCAN1):c.1105G>A (p.Gly369Ser)	ZSCAN1 (G369S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2338952	NM_182572.4(ZSCAN1):c.1211C>T (p.Ala404Val)	ZSCAN1 (A404V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2350844	NM_182572.4(ZSCAN1):c.1213C>A (p.His405Asn)	ZSCAN1 (H405N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 689096	GRCh37/hg19 19q13.43(chr19:58369898-58590859)x3	C19orf18, ZNF135 +7 more	Copy number gain	not provided	GUncertain significance
Select item 688389	GRCh37/hg19 19q13.43(chr19:58092045-58686148)x3	C19orf18, ZIK1 +21 more	Copy number gain	not provided	GUncertain significance
Select item 687845	GRCh37/hg19 19q13.43(chr19:58369898-58590924)x3	C19orf18, ZNF135 +7 more	Copy number gain	not provided	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 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	A1BG, ABCA7 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	LILRA4, LILRA5 +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
Select item 253827	GRCh37/hg19 19q13.43(chr19:58458999-58929684)x3	ZNF329, ZNF135 +14 more	Copy number gain	See cases	GUncertain significance

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Items: 50