ZSCAN18[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 60

	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 2399227	NM_001145543.2(ZSCAN18):c.1489G>A (p.Val497Met)	ZSCAN18 (V361M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2612688	NM_001145543.2(ZSCAN18):c.1486A>G (p.Ser496Gly)	ZSCAN18 (S552G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3260036	NM_001145543.2(ZSCAN18):c.1478C>T (p.Pro493Leu)	ZSCAN18 (P357L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199333	NM_001145543.2(ZSCAN18):c.1456G>T (p.Ala486Ser)	ZSCAN18 (A542S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252230	NM_001145543.2(ZSCAN18):c.1409C>A (p.Ala470Glu)	ZSCAN18 (A334E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252229	NM_001145543.2(ZSCAN18):c.1408G>A (p.Ala470Thr)	ZSCAN18 (A334T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288398	NM_001145543.2(ZSCAN18):c.1396G>A (p.Glu466Lys)	ZSCAN18 (E522K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597841	NM_001145543.2(ZSCAN18):c.1393A>G (p.Lys465Glu)	ZSCAN18 (K329E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250257	NM_001145543.2(ZSCAN18):c.1334G>A (p.Gly445Asp)	ZSCAN18 (G309D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336457	NM_001145543.2(ZSCAN18):c.1324G>A (p.Ala442Thr)	ZSCAN18 (A442T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306942	NM_001145543.2(ZSCAN18):c.1298G>A (p.Ser433Asn)	ZSCAN18 (S297N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3260033	NM_001145543.2(ZSCAN18):c.1294C>T (p.His432Tyr)	ZSCAN18 (H432Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215608	NM_001145543.2(ZSCAN18):c.1250A>T (p.Glu417Val)	ZSCAN18 (E281V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199332	NM_001145543.2(ZSCAN18):c.1241C>T (p.Ala414Val)	ZSCAN18 (A414V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199331	NM_001145543.2(ZSCAN18):c.1209C>A (p.Asp403Glu)	ZSCAN18 (D459E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199330	NM_001145543.2(ZSCAN18):c.1204G>C (p.Ala402Pro)	ZSCAN18 (A266P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204770	NM_001145543.2(ZSCAN18):c.1165G>A (p.Gly389Ser)	ZSCAN18 (G253S +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2381590	NM_001145543.2(ZSCAN18):c.1157C>G (p.Ser386Cys)	ZSCAN18 (S250C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199329	NM_001145543.2(ZSCAN18):c.1124A>T (p.Glu375Val)	ZSCAN18 (E375V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588428	NM_001145543.2(ZSCAN18):c.1096A>C (p.Lys366Gln)	ZSCAN18 (K422Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261560	NM_001145543.2(ZSCAN18):c.1083C>G (p.Asp361Glu)	ZSCAN18 (D417E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3260034	NM_001145543.2(ZSCAN18):c.1032C>A (p.Asp344Glu)	ZSCAN18 (D208E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480944	NM_001145543.2(ZSCAN18):c.994G>T (p.Ala332Ser)	ZSCAN18 (A196S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199328	NM_001145543.2(ZSCAN18):c.956C>T (p.Ser319Leu)	ZSCAN18 (S183L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354731	NM_001145543.2(ZSCAN18):c.950C>G (p.Pro317Arg)	ZSCAN18 (P317R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199327	NM_001145543.2(ZSCAN18):c.948T>A (p.Asp316Glu)	ZSCAN18 (D316E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349356	NM_001145543.2(ZSCAN18):c.882G>C (p.Glu294Asp)	ZSCAN18 (E294D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349355	NM_001145543.2(ZSCAN18):c.881A>C (p.Glu294Ala)	ZSCAN18 (E158A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335223	NM_001145543.2(ZSCAN18):c.824G>A (p.Gly275Glu)	ZSCAN18 (G331E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515251	NM_001145543.2(ZSCAN18):c.800G>A (p.Arg267Gln)	ZSCAN18 (R132Q +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2356041	NM_001145543.2(ZSCAN18):c.662A>T (p.Glu221Val)	ZSCAN18 (E221V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199337	NM_001145543.2(ZSCAN18):c.566C>T (p.Pro189Leu)	ZSCAN18 (P189L +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2461296	NM_001145543.2(ZSCAN18):c.536C>T (p.Pro179Leu)	ZSCAN18 (P235L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199336	NM_001145543.2(ZSCAN18):c.509G>A (p.Ser170Asn)	ZSCAN18 (S35N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3260035	NM_001145543.2(ZSCAN18):c.471G>A (p.Met157Ile)	ZSCAN18 (M213I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199335	NM_001145543.2(ZSCAN18):c.353A>G (p.Lys118Arg)	ZSCAN18 (K118R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3199334	NM_001145543.2(ZSCAN18):c.184G>A (p.Gly62Arg)	ZSCAN18 (G118R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2328650	NM_001145543.2(ZSCAN18):c.146G>A (p.Arg49His)	ZSCAN18 (R105H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2253271	NM_001145543.2(ZSCAN18):c.50C>T (p.Pro17Leu)	ZSCAN18 (P73L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2341688	NM_001145543.2(ZSCAN18):c.39C>G (p.Ser13Arg)	ZSCAN18 (S13R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2392680	NM_001145543.2(ZSCAN18):c.-11G>A	ZSCAN18 (R53H)	Single nucleotide variant (missense variant +2 more)	not specified	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 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)	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
Select item 253827	GRCh37/hg19 19q13.43(chr19:58458999-58929684)x3	ZNF329, ZNF135 +14 more	Copy number gain	See cases	GUncertain significance

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 60