ZSCAN22[gene] - ClinVar

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Items: 53

	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 3199381	NM_181846.3(ZSCAN22):c.14A>G (p.Lys5Arg)	ZSCAN22 (K5R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199384	NM_181846.3(ZSCAN22):c.42A>T (p.Glu14Asp)	ZSCAN22 (E14D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220554	NM_181846.3(ZSCAN22):c.43G>A (p.Glu15Lys)	ZSCAN22 (E15K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2228621	NM_181846.3(ZSCAN22):c.118G>C (p.Asp40His)	ZSCAN22 (D40H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354712	NM_181846.3(ZSCAN22):c.138G>C (p.Glu46Asp)	ZSCAN22 (E46D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199382	NM_181846.3(ZSCAN22):c.170A>G (p.Tyr57Cys)	ZSCAN22 (Y57C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472793	NM_181846.3(ZSCAN22):c.202G>A (p.Ala68Thr)	ZSCAN22 (A68T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199383	NM_181846.3(ZSCAN22):c.212G>A (p.Arg71Gln)	ZSCAN22 (R71Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342288	NM_181846.3(ZSCAN22):c.215C>T (p.Ala72Val)	ZSCAN22 (A72V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199385	NM_181846.3(ZSCAN22):c.487A>G (p.Thr163Ala)	ZSCAN22 (T163A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2602513	NM_181846.3(ZSCAN22):c.490C>T (p.Leu164Phe)	ZSCAN22 (L164F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2250491	NM_181846.3(ZSCAN22):c.626G>A (p.Gly209Glu)	ZSCAN22 (G204S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558728	NM_181846.3(ZSCAN22):c.637G>A (p.Asp213Asn)	ZSCAN22 (D213N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3199386	NM_181846.3(ZSCAN22):c.661C>T (p.Arg221Cys)	ZSCAN22 (R221C)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3199388	NM_181846.3(ZSCAN22):c.662G>C (p.Arg221Pro)	ZSCAN22 (R221P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199387	NM_181846.3(ZSCAN22):c.662G>A (p.Arg221His)	ZSCAN22 (R221H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199389	NM_181846.3(ZSCAN22):c.683A>G (p.Asn228Ser)	ZSCAN22 (T223A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2618884	NM_181846.3(ZSCAN22):c.701C>G (p.Pro234Arg)	ZSCAN22 (Q229E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236684	NM_181846.3(ZSCAN22):c.716A>G (p.Gln239Arg)	ZSCAN22 (Q239R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410551	NM_181846.3(ZSCAN22):c.727C>T (p.Pro243Ser)	ZSCAN22 (P243S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3199390	NM_181846.3(ZSCAN22):c.751G>A (p.Val251Met)	ZSCAN22 (W245* +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2220555	NM_181846.3(ZSCAN22):c.769G>C (p.Glu257Gln)	ZSCAN22 (E257Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261361	NM_181846.3(ZSCAN22):c.857A>G (p.His286Arg)	ZSCAN22 (H286R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590946	NM_181846.3(ZSCAN22):c.920G>A (p.Arg307Gln)	ZSCAN22 (G302R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458425	NM_181846.3(ZSCAN22):c.934G>A (p.Ala312Thr)	ZSCAN22 (A312T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2371313	NM_181846.3(ZSCAN22):c.967C>G (p.Pro323Ala)	ZSCAN22 (P323A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465012	NM_181846.3(ZSCAN22):c.1019C>T (p.Thr340Ile)	ZSCAN22 (T340I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2568392	NM_181846.3(ZSCAN22):c.1178C>T (p.Thr393Met)	ZSCAN22 (T393M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2521200	NM_181846.3(ZSCAN22):c.1199G>A (p.Arg400His)	ZSCAN22 (R400H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2613189	NM_181846.3(ZSCAN22):c.1210G>A (p.Gly404Arg)	ZSCAN22 (G404R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2337146	NM_181846.3(ZSCAN22):c.1255G>A (p.Asp419Asn)	ZSCAN22 (D419N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3199379	NM_181846.3(ZSCAN22):c.1274G>A (p.Arg425Gln)	ZSCAN22 (R425Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3260060	NM_181846.3(ZSCAN22):c.1355T>C (p.Ile452Thr)	ZSCAN22 (I452T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2370987	NM_181846.3(ZSCAN22):c.1426A>T (p.Ser476Cys)	ZSCAN22 (S476C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2521228	NM_181846.3(ZSCAN22):c.1457A>G (p.His486Arg)	ZSCAN22 (H486R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3199380	NM_181846.3(ZSCAN22):c.1463C>T (p.Thr488Met)	ZSCAN22 (T488M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 979556	GRCh37/hg19 19q13.43(chr19:58687912-58946147)x3	ZNF132, A1BG +8 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 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: 53