ZNF613[gene] - ClinVar

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Items: 58

	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 155383	GRCh38/hg38 19q13.41(chr19:51202361-51993020)x3	C19orf84, CD33 +62 more	Copy number gain	See cases	GUncertain significance
Select item 149471	GRCh38/hg38 19q13.41(chr19:51681235-51936423)x3	FPR1, FPR2 +15 more	Copy number gain	See cases	GLikely benign
Select item 154637	GRCh38/hg38 19q13.41(chr19:51769103-52124150)x3	FPR2, FPR3 +20 more	Copy number gain	See cases	GBenign
Select item 157458	NM_001005738.1(FPR2):c.290_344331dup	FPR2, FPR3 +20 more	Duplication	Gestational diabetes mellitus uncontrolled	Gnot provided
Select item 154882	GRCh38/hg38 19q13.41(chr19:51785545-52075049)x3	FPR3, LOC126862921 +16 more	Copy number gain	See cases	GLikely benign
Select item 58803	GRCh38/hg38 19q13.41(chr19:51824349-52113443)x3	FPR3, LOC126862921 +18 more	Copy number gain	See cases	GUncertain significance
Select item 147613	GRCh38/hg38 19q13.41(chr19:51865544-52113443)x3	LOC126862922, LOC126862923 +16 more	Copy number gain	See cases	GBenign
Select item 3258914	NM_001031721.4(ZNF613):c.76G>A (p.Gly26Ser)	ZNF613 (G26S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2538942	NM_001031721.4(ZNF613):c.127A>G (p.Asn43Asp)	ZNF613 (N43D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197200	NM_001031721.4(ZNF613):c.242A>C (p.Lys81Thr)	ZNF613 (K81T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299717	NM_001031721.4(ZNF613):c.248T>C (p.Val83Ala)	ZNF613 (V47A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384143	NM_001031721.4(ZNF613):c.308G>T (p.Cys103Phe)	ZNF613 (C67F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3258912	NM_001031721.4(ZNF613):c.311A>G (p.His104Arg)	ZNF613 (H68R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552951	NM_001031721.4(ZNF613):c.321T>G (p.Asn107Lys)	ZNF613 (N71K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341552	NM_001031721.4(ZNF613):c.538G>A (p.Glu180Lys)	ZNF613 (E144K +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2411814	NM_001031721.4(ZNF613):c.541G>T (p.Gly181Cys)	ZNF613 (G181C +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2305081	NM_001031721.4(ZNF613):c.643A>G (p.Lys215Glu)	ZNF613 (K179E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383504	NM_001031721.4(ZNF613):c.673G>A (p.Val225Ile)	ZNF613 (V189I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615439	NM_001031721.4(ZNF613):c.808C>G (p.Arg270Gly)	ZNF613 (R234G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392396	NM_001031721.4(ZNF613):c.808C>T (p.Arg270Cys)	ZNF613 (R234C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358038	NM_001031721.4(ZNF613):c.823C>T (p.Leu275Phe)	ZNF613 (L239F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197201	NM_001031721.4(ZNF613):c.862T>C (p.Tyr288His)	ZNF613 (Y252H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197202	NM_001031721.4(ZNF613):c.904C>T (p.Arg302Trp)	ZNF613 (R266W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463419	NM_001031721.4(ZNF613):c.905G>A (p.Arg302Gln)	ZNF613 (R266Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616763	NM_001031721.4(ZNF613):c.924A>C (p.Arg308Ser)	ZNF613 (R272S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601387	NM_001031721.4(ZNF613):c.948T>A (p.His316Gln)	ZNF613 (H316Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395644	NM_001031721.4(ZNF613):c.1039A>C (p.Thr347Pro)	ZNF613 (T347P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197197	NM_001031721.4(ZNF613):c.1068A>C (p.Lys356Asn)	ZNF613 (K320N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526747	NM_001031721.4(ZNF613):c.1078A>G (p.Asn360Asp)	ZNF613 (N360D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288025	NM_001031721.4(ZNF613):c.1103G>T (p.Gly368Val)	ZNF613 (G332V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238248	NM_001031721.4(ZNF613):c.1208A>G (p.Asn403Ser)	ZNF613 (N367S +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2410658	NM_001031721.4(ZNF613):c.1258C>T (p.Arg420Cys)	ZNF613 (R384C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346699	NM_001031721.4(ZNF613):c.1303A>G (p.Lys435Glu)	ZNF613 (K435E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390376	NM_001031721.4(ZNF613):c.1344A>T (p.Arg448Ser)	ZNF613 (R412S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465595	NM_001031721.4(ZNF613):c.1436C>T (p.Thr479Ile)	ZNF613 (T443I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197198	NM_001031721.4(ZNF613):c.1448C>T (p.Pro483Leu)	ZNF613 (P447L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271114	NM_001031721.4(ZNF613):c.1508G>A (p.Arg503Gln)	ZNF613 (R503Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3258913	NM_001031721.4(ZNF613):c.1530A>C (p.Arg510Ser)	ZNF613 (R510S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197199	NM_001031721.4(ZNF613):c.1679G>A (p.Arg560His)	ZNF613 (R524H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212712	NM_001031721.4(ZNF613):c.1687A>C (p.Ile563Leu)	ZNF613 (I563L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303317	NM_001031721.4(ZNF613):c.1728G>C (p.Met576Ile)	ZNF613 (M540I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272783	NM_001031721.4(ZNF613):c.1765G>A (p.Ala589Thr)	ZNF613 (A553T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380716	NM_001031721.4(ZNF613):c.1766C>T (p.Ala589Val)	ZNF613 (A553V +1 more)	Single nucleotide variant (missense variant)	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 1526670	GRCh37/hg19 19q13.33-13.41(chr19:49911081-53127438)	FPR3, ZNF577 +115 more	Copy number gain	not specified	GLikely pathogenic
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
Select item 221886	GRCh37/hg19 19q13.41(chr19:52272131-52588718)x3	ZNF613, ZNF614 +8 more	Copy number gain	Premature ovarian failure	GBenign

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Items: 58