ZNF28[gene] - ClinVar

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Items: 77

	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 145088	GRCh38/hg38 19q13.41(chr19:52616146-52929716)x3	LOC122539214, LOC125384532 +15 more	Copy number gain	See cases	GUncertain significance
Select item 58343	GRCh38/hg38 19q13.41-13.42(chr19:52707235-53192628)x1	ERVFRD-2, ERVV-1 +23 more	Copy number loss	See cases	GUncertain significance
Select item 2286566	NM_006969.5(ZNF28):c.2110T>C (p.Ser704Pro)	ZNF28, ZNF600 (S701P +4 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2308623	NM_006969.5(ZNF28):c.2000A>G (p.Glu667Gly)	ZNF28, ZNF600 (E614G +4 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2371008	NM_006969.5(ZNF28):c.1973G>T (p.Ser658Ile)	ZNF28, ZNF600 (S644I +4 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2455887	NM_006969.5(ZNF28):c.1951G>A (p.Val651Ile)	ZNF28, ZNF600 (V648I +4 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 720937	NM_006969.5(ZNF28):c.1950C>T (p.Leu650=)	ZNF28, ZNF600	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GBenign
Select item 2238954	NM_006969.5(ZNF28):c.1930T>G (p.Phe644Val)	ZNF28, ZNF600 (F591V +4 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2623415	NM_006969.5(ZNF28):c.1883T>G (p.Leu628Arg)	ZNF28, ZNF600 (L614R +4 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2466093	NM_006969.5(ZNF28):c.1877G>A (p.Arg626His)	ZNF28, ZNF600 (R623H +4 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3194842	NM_006969.5(ZNF28):c.1876C>T (p.Arg626Cys)	ZNF28, ZNF600 (R573C +4 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2204974	NM_006969.5(ZNF28):c.1844C>T (p.Thr615Ile)	ZNF28, ZNF600 (T562I +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2561136	NM_006969.5(ZNF28):c.1829A>T (p.Asn610Ile)	ZNF28, ZNF600 (N574I +4 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3335349	NM_006969.5(ZNF28):c.1807G>A (p.Gly603Arg)	ZNF28, ZNF600 (G567R +4 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2589143	NM_006969.5(ZNF28):c.1789C>T (p.His597Tyr)	ZNF28, ZNF600 (H544Y +4 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2598223	NM_006969.5(ZNF28):c.1765C>T (p.Arg589Trp)	ZNF28, ZNF600 (R586W +4 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3335340	NM_006969.5(ZNF28):c.1649C>T (p.Pro550Leu)	ZNF28, ZNF600 (P550L +4 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3335345	NM_006969.5(ZNF28):c.1642G>A (p.Glu548Lys)	ZNF28, ZNF600 (E512K +4 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3194841	NM_006969.5(ZNF28):c.1514G>A (p.Arg505Gln)	ZNF28, ZNF600 (R469Q +4 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2390698	NM_006969.5(ZNF28):c.1484A>G (p.Tyr495Cys)	ZNF28, ZNF600 (Y442C +4 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3335342	NM_006969.5(ZNF28):c.1477A>C (p.Lys493Gln)	ZNF28, ZNF600 (K479Q +4 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3194839	NM_006969.5(ZNF28):c.1451G>T (p.Arg484Ile)	ZNF28, ZNF600 (R448I +4 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2650396	NM_006969.5(ZNF28):c.1442A>T (p.His481Leu)	ZNF28, ZNF600 (H428L +4 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely benign
Select item 3194838	NM_006969.5(ZNF28):c.1395A>T (p.Lys465Asn)	ZNF28, ZNF600 (K465N +4 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3194837	NM_006969.5(ZNF28):c.1293A>G (p.Ile431Met)	ZNF28, ZNF600 (I417M +4 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2242852	NM_006969.5(ZNF28):c.1289G>A (p.Ser430Asn)	ZNF28, ZNF600 (S394N +4 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3335344	NM_006969.5(ZNF28):c.1274A>C (p.Tyr425Ser)	ZNF28, ZNF600 (Y422S +4 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2288959	NM_006969.5(ZNF28):c.1250A>C (p.Asp417Ala)	ZNF28, ZNF600 (D381A +4 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2369836	NM_006969.5(ZNF28):c.1123A>G (p.Arg375Gly)	ZNF28, ZNF600 (R339G +4 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2468311	NM_006969.5(ZNF28):c.1120C>T (p.Arg374Cys)	ZNF28, ZNF600 (R321C +4 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2217170	NM_006969.5(ZNF28):c.1115G>A (p.Arg372His)	ZNF28, ZNF600 (R358H +4 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2296148	NM_006969.5(ZNF28):c.1074T>A (p.Asn358Lys)	ZNF28, ZNF600 (N344K +4 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2302208	NM_006969.5(ZNF28):c.1013G>A (p.Cys338Tyr)	ZNF28, ZNF600 (C335Y +4 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2650397	NM_006969.5(ZNF28):c.954_958del (p.Lys318fs)	ZNF28, ZNF600 (K265fs +4 more)	Deletion (3 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2410536	NM_006969.5(ZNF28):c.947C>T (p.Thr316Ile)	ZNF28, ZNF600 (T313I +4 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3335347	NM_006969.5(ZNF28):c.929G>T (p.Arg310Leu)	ZNF28, ZNF600 (R274L +4 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2519486	NM_006969.5(ZNF28):c.928C>T (p.Arg310Cys)	ZNF28, ZNF600 (R296C +4 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2605823	NM_006969.5(ZNF28):c.833A>G (p.Lys278Arg)	ZNF28, ZNF600 (K225R +4 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2553392	NM_006969.5(ZNF28):c.827G>T (p.Cys276Phe)	ZNF28, ZNF600 (C240F +4 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3194848	NM_006969.5(ZNF28):c.797T>C (p.Ile266Thr)	ZNF28, ZNF600 (I266T +4 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GLikely benign
Select item 2220035	NM_006969.5(ZNF28):c.767G>A (p.Arg256Gln)	ZNF28, ZNF600 (R203Q +4 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2406027	NM_006969.5(ZNF28):c.658A>G (p.Ser220Gly)	ZNF28, ZNF600 (S220G +4 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3194847	NM_006969.5(ZNF28):c.655G>C (p.Glu219Gln)	ZNF28, ZNF600 (E166Q +4 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2283765	NM_006969.5(ZNF28):c.628A>C (p.Met210Leu)	ZNF28, ZNF600 (M174L +4 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3335346	NM_006969.5(ZNF28):c.553A>C (p.Lys185Gln)	ZNF28, ZNF600 (K182Q +4 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2393780	NM_006969.5(ZNF28):c.526A>T (p.Thr176Ser)	ZNF28, ZNF600 (T140S +4 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2359798	NM_006969.5(ZNF28):c.490G>T (p.Val164Phe)	ZNF28, ZNF600 (V111F +4 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2220318	NM_006969.5(ZNF28):c.452T>C (p.Leu151Pro)	ZNF28, ZNF600 (L148P +4 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2319651	NM_006969.5(ZNF28):c.392C>T (p.Ala131Val)	ZNF28, ZNF600 (A117V +4 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3194846	NM_006969.5(ZNF28):c.383A>G (p.Gln128Arg)	ZNF28, ZNF600 (Q92R +4 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3194845	NM_006969.5(ZNF28):c.365G>A (p.Ser122Asn)	ZNF28, ZNF600 (S122N +4 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2456819	NM_006969.5(ZNF28):c.361G>T (p.Gly121Cys)	ZNF28, ZNF600 (G118C +4 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 782659	NM_006969.5(ZNF28):c.311A>G (p.Asp104Gly)	ZNF28, ZNF600 (D104G +4 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GBenign
Select item 2556221	NM_006969.5(ZNF28):c.300G>C (p.Gln100His)	ZNF28, ZNF600 (Q47H +4 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3194844	NM_006969.5(ZNF28):c.274A>G (p.Lys92Glu)	ZNF28, ZNF600 (K89E +4 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3335341	NM_006969.5(ZNF28):c.209A>T (p.His70Leu)	ZNF28, ZNF600 (H56L +4 more)	Single nucleotide variant (synonymous variant +2 more)	not specified	GUncertain significance
Select item 3335348	NM_006969.5(ZNF28):c.205T>A (p.Phe69Ile)	ZNF28, ZNF600 (F66I +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3335339	NM_006969.5(ZNF28):c.154A>G (p.Lys52Glu)	ZNF28, ZNF600 (K16E +3 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3335343	NM_006969.5(ZNF28):c.28T>C (p.Phe10Leu)	ZNF28, ZNF600 (F10L)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3194843	NM_006969.5(ZNF28):c.19C>G (p.Leu7Val)	ZNF28, ZNF600 (L7V)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2684892	GRCh37/hg19 19q13.33-13.43(chr19:49625130-57647352)x3	ACP4, ADM5 +261 more	Copy number gain	not provided	GLikely pathogenic
Select item 1808067	GRCh37/hg19 19q13.41(chr19:53312370-53370013)x1	ZNF28, ZNF468	Copy number loss	not provided	GUncertain significance
Select item 980769	GRCh37/hg19 19q13.41(chr19:53057478-53428612)x1	ZNF28, ZNF320 +7 more	Copy number loss	not provided	GLikely benign
Select item 980768	GRCh37/hg19 19q13.33-13.43(chr19:48463931-57095254)x3	PPP1R15A, PPP2R1A +308 more	Copy number gain	not provided	GPathogenic
Select item 972980	GRCh37/hg19 19q13.32-13.42(chr19:47939842-54626871)	GRIN2D, GRWD1 +228 more	Copy number gain	not provided	Gnot provided
Select item 816084	GRCh37/hg19 19q13.31-13.42(chr19:44738088-53621561)x3	C5AR1, C5AR2 +293 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 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: 77