ZNF677[gene] - ClinVar

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Items: 61

	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 151480	GRCh38/hg38 19q13.42(chr19:53159246-53289022)x3	LOC112553113, LOC130065072 +5 more	Copy number gain	See cases	GLikely benign
Select item 2387627	NM_182609.4(ZNF677):c.1727C>T (p.Thr576Ile)	ZNF677 (T576I)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2329299	NM_182609.4(ZNF677):c.1718A>G (p.Tyr573Cys)	ZNF677 (Y573C)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2557318	NM_182609.4(ZNF677):c.1681C>A (p.His561Asn)	ZNF677 (H561N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3259158	NM_182609.4(ZNF677):c.1672C>T (p.Leu558Phe)	ZNF677 (L558F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2472048	NM_182609.4(ZNF677):c.1672C>G (p.Leu558Val)	ZNF677 (L558V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3197659	NM_182609.4(ZNF677):c.1613T>C (p.Ile538Thr)	ZNF677 (I538T)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2399727	NM_182609.4(ZNF677):c.1529C>T (p.Thr510Ile)	ZNF677 (T510I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2484515	NM_182609.4(ZNF677):c.1516A>G (p.Lys506Glu)	ZNF677 (K506E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3197658	NM_182609.4(ZNF677):c.1508C>T (p.Thr503Ile)	ZNF677 (T503I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2463354	NM_182609.4(ZNF677):c.1496G>A (p.Arg499His)	ZNF677 (R499H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3259157	NM_182609.4(ZNF677):c.1339G>C (p.Val447Leu)	ZNF677 (V447L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2614775	NM_182609.4(ZNF677):c.1207T>C (p.Tyr403His)	ZNF677 (Y403H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2619315	NM_182609.4(ZNF677):c.1178A>G (p.His393Arg)	ZNF677 (H393R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2537009	NM_182609.4(ZNF677):c.1165A>G (p.Ser389Gly)	ZNF677 (S389G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2548166	NM_182609.4(ZNF677):c.1160G>A (p.Arg387His)	ZNF677 (R387H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3197657	NM_182609.4(ZNF677):c.1135G>C (p.Glu379Gln)	ZNF677 (E379Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2594043	NM_182609.4(ZNF677):c.941C>G (p.Thr314Arg)	ZNF677 (T314R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2527385	NM_182609.4(ZNF677):c.933A>T (p.Arg311Ser)	ZNF677 (R311S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2217017	NM_182609.4(ZNF677):c.911C>T (p.Ser304Leu)	ZNF677 (S304L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2595909	NM_182609.4(ZNF677):c.788A>G (p.Tyr263Cys)	ZNF677 (Y263C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2523749	NM_182609.4(ZNF677):c.788A>T (p.Tyr263Phe)	ZNF677 (Y263F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3197664	NM_182609.4(ZNF677):c.772A>G (p.Ile258Val)	ZNF677 (I258V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2511584	NM_182609.4(ZNF677):c.665A>G (p.Asn222Ser)	ZNF677 (N222S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2208529	NM_182609.4(ZNF677):c.661A>G (p.Ile221Val)	ZNF677 (I221V)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3197663	NM_182609.4(ZNF677):c.649G>T (p.Val217Phe)	ZNF677 (V217F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3259155	NM_182609.4(ZNF677):c.643A>T (p.Asn215Tyr)	ZNF677 (N215Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3259159	NM_182609.4(ZNF677):c.634T>A (p.Tyr212Asn)	ZNF677 (Y212N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2405732	NM_182609.4(ZNF677):c.557G>A (p.Cys186Tyr)	ZNF677 (C186Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2650407	NM_182609.4(ZNF677):c.537C>T (p.Ala179=)	ZNF677	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3197662	NM_182609.4(ZNF677):c.510A>T (p.Leu170Phe)	ZNF677 (L170F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2266906	NM_182609.4(ZNF677):c.481C>T (p.His161Tyr)	ZNF677 (H161Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3259156	NM_182609.4(ZNF677):c.462T>G (p.Ser154Arg)	ZNF677 (S154R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3259161	NM_182609.4(ZNF677):c.451A>T (p.Ile151Leu)	ZNF677 (I151L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2523064	NM_182609.4(ZNF677):c.421A>G (p.Ile141Val)	ZNF677 (I141V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2282204	NM_182609.4(ZNF677):c.371G>A (p.Cys124Tyr)	ZNF677 (C124Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3197661	NM_182609.4(ZNF677):c.331G>A (p.Asp111Asn)	ZNF677 (D111N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2510526	NM_182609.4(ZNF677):c.313A>G (p.Lys105Glu)	ZNF677 (K105E)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2351867	NM_182609.4(ZNF677):c.308T>C (p.Met103Thr)	ZNF677 (M103T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2358769	NM_182609.4(ZNF677):c.175T>C (p.Ser59Pro)	ZNF677 (S59P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197660	NM_182609.4(ZNF677):c.170A>G (p.Asp57Gly)	ZNF677 (D57G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3259160	NM_182609.4(ZNF677):c.149A>C (p.Asp50Ala)	ZNF677 (D50A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2650408	NM_182609.4(ZNF677):c.75G>A (p.Leu25=)	ZNF677	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2221310	NM_182609.4(ZNF677):c.40G>A (p.Ala14Thr)	ZNF677 (A14T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2306773	NM_182609.4(ZNF677):c.14A>G (p.Gln5Arg)	ZNF677 (Q5R)	Single nucleotide variant (missense variant +1 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 1808442	GRCh37/hg19 19q13.42(chr19:53723679-53787396)x1	VN1R2, VN1R4 +1 more	Copy number loss	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 972980	GRCh37/hg19 19q13.32-13.42(chr19:47939842-54626871)	GRIN2D, GRWD1 +228 more	Copy number gain	not provided	Gnot provided
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: 61