ClinVar for Gene (Select 51545) - ClinVar

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Links from Gene

Items: 58

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3258778	NM_016535.4(ZNF581):c.379G>T (p.Ala127Ser)	ZNF581 (A127S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3258777	NM_016535.4(ZNF581):c.452C>T (p.Pro151Leu)	ZNF581 (P151L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3258776	NM_207115.2(ZNF580):c.436G>A (p.Ala146Thr)	LOC125384545, ZNF580 +1 more (A146T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196923	NM_016535.4(ZNF581):c.73C>T (p.Arg25Cys)	ZNF581 (R25C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196922	NM_016535.4(ZNF581):c.70C>T (p.Pro24Ser)	ZNF581 (P24S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196921	NM_016535.4(ZNF581):c.538C>T (p.Arg180Cys)	ZNF581 (R180C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196920	NM_016535.4(ZNF581):c.494G>A (p.Arg165Gln)	ZNF581 (R165Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196919	NM_016535.4(ZNF581):c.454C>T (p.Arg152Cys)	ZNF581 (R152C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196918	NM_016535.4(ZNF581):c.443C>T (p.Pro148Leu)	ZNF581 (P148L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196917	NM_016535.4(ZNF581):c.394C>T (p.Arg132Trp)	ZNF581 (R132W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196916	NM_016535.4(ZNF581):c.377G>A (p.Arg126His)	ZNF581 (R126H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196915	NM_016535.4(ZNF581):c.297G>A (p.Met99Ile)	ZNF581 (M99I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196914	NM_016535.4(ZNF581):c.110C>G (p.Ser37Cys)	ZNF581 (S37C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196913	NM_207115.2(ZNF580):c.199G>A (p.Val67Met)	LOC125384545, ZNF580 +1 more (V67M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062375	GRCh37/hg19 19q13.42-13.43(chr19:56080158-57672397)x1	CCDC106, DUXA +36 more	Copy number loss	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 2609333	NM_207115.2(ZNF580):c.91A>C (p.Lys31Gln)	LOC125384545, ZNF580 +1 more (K31Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599070	NM_207115.2(ZNF580):c.473G>A (p.Arg158His)	LOC125384545, ZNF580 +1 more (R158H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539410	NM_016535.4(ZNF581):c.74G>A (p.Arg25His)	ZNF581 (R25H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538197	NM_207115.2(ZNF580):c.140C>T (p.Pro47Leu)	LOC125384545, ZNF580 +1 more (P47L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537949	NM_016535.4(ZNF581):c.68C>T (p.Pro23Leu)	ZNF581 (P23L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530749	NM_016535.4(ZNF581):c.406A>G (p.Ile136Val)	ZNF581 (I136V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530457	NM_207115.2(ZNF580):c.455G>A (p.Cys152Tyr)	LOC125384545, ZNF580 +1 more (C152Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382389	NM_016535.4(ZNF581):c.511C>A (p.Arg171Ser)	ZNF581 (R171S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375559	NM_016535.4(ZNF581):c.149C>T (p.Pro50Leu)	ZNF581 (P50L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309710	NM_016535.4(ZNF581):c.514C>T (p.Pro172Ser)	ZNF581 (P172S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290415	NM_016535.4(ZNF581):c.139C>T (p.Pro47Ser)	ZNF581 (P47S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285186	NM_207115.2(ZNF580):c.380A>G (p.Lys127Arg)	LOC125384545, ZNF580 +1 more (K127R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233739	NM_207115.2(ZNF580):c.184C>T (p.Pro62Ser)	LOC125384545, ZNF580 +1 more (P62S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224620	NM_207115.2(ZNF580):c.76G>C (p.Ala26Pro)	LOC125384545, ZNF580 +1 more (A26P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222207	NM_016535.4(ZNF581):c.470C>T (p.Ala157Val)	ZNF581 (A157V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1341981	GRCh37/hg19 19q13.42-13.43(chr19:55434660-56463734)x1	CCDC106, COX6B2 +45 more	Copy number loss	not provided	GUncertain significance
Select item 1341017	GRCh37/hg19 19q13.42-13.43(chr19:55247893-56503347)x1	BRSK1, CCDC106 +54 more	Copy number loss	not provided	GLikely pathogenic
Select item 980772	GRCh37/hg19 19q13.42-13.43(chr19:54334195-56434037)x3	TMC4, TMEM150B +87 more	Copy number gain	not provided	GUncertain significance
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 777510	NM_207115.2(ZNF580):c.244C>A (p.Pro82Thr)	LOC125384545, ZNF580 +1 more (P82T)	Single nucleotide variant (missense variant)	not provided	GBenign
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 564600	GRCh37/hg19 19q13.42-13.43(chr19:55779884-56896574)x1	KMT5C, NLRP8 +39 more	Copy number loss	not provided	GUncertain significance
Select item 560140	Single allele	CCDC106, EPN1 +37 more	Deletion	not provided	GUncertain significance
Select item 443658	GRCh37/hg19 19q13.42-13.43(chr19:55844155-57408007)x3	CCDC106, COX6B2 +47 more	Copy number gain	See cases	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 443202	GRCh37/hg19 19q13.42-13.43(chr19:55549385-57489784)x3	BRSK1, CCDC106 +61 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 221354	chr19:56133299..57648277 complex variant	NLRP4, CCDC106 +31 more	Complex	Breast ductal adenocarcinoma	GUncertain significance
Select item 154108	GRCh38/hg38 19q13.42-13.43(chr19:55037146-56982033)x3	BRSK1, C19orf85 +196 more	Copy number gain	See cases	GUncertain significance
Select item 153813	GRCh38/hg38 19q13.42(chr19:55066790-55789870)x3	NAT14, NLRP11 +124 more	Copy number gain	See cases	GUncertain significance
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 149081	GRCh38/hg38 19q13.42-13.43(chr19:55048514-56972458)x3	BRSK1, C19orf85 +194 more	Copy number gain	See cases	GLikely pathogenic
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 145961	GRCh38/hg38 19q13.42-13.43(chr19:55550939-57031576)x1	CCDC106, EDDM13 +106 more	Copy number loss	See cases	GLikely pathogenic
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 59127	GRCh38/hg38 19q13.41-13.43(chr19:51141518-58539965)x3	A1BG, A1BG-AS1 +647 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 59117	GRCh38/hg38 19q13.33-13.43(chr19:47929575-58572206)x3	LOC130064903, LOC130064904 +1093 more	Copy number gain	See cases	GPathogenic
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 57219	GRCh38/hg38 19q13.33-13.43(chr19:50191219-58535818)x3	LOC130065034, LOC130065035 +761 more	Copy number gain	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 58