ClinVar for Gene (Select 9422) - ClinVar

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Links from Gene

Items: 80

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3335292	NM_003417.5(ZNF264):c.1868A>G (p.Gln623Arg)	ZNF264 (Q623R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3335291	NM_003417.5(ZNF264):c.671T>C (p.Ile224Thr)	ZNF264 (I224T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3335290	NM_003417.5(ZNF264):c.305C>A (p.Ala102Asp)	ZNF264 (A102D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3335289	NM_003417.5(ZNF264):c.877G>A (p.Gly293Arg)	ZNF264 (G293R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3335288	NM_003417.5(ZNF264):c.205G>A (p.Gly69Arg)	ZNF264 (G69R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3335287	NM_003417.5(ZNF264):c.697T>G (p.Cys233Gly)	ZNF264 (C233G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3335286	NM_003417.5(ZNF264):c.1148G>C (p.Ser383Thr)	ZNF264 (S383T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3335285	NM_003417.5(ZNF264):c.1780T>A (p.Phe594Ile)	ZNF264 (F594I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194764	NM_003417.5(ZNF264):c.856C>G (p.Pro286Ala)	ZNF264 (P286A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194763	NM_003417.5(ZNF264):c.78G>T (p.Glu26Asp)	ZNF264 (E26D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194762	NM_003417.5(ZNF264):c.784A>T (p.Met262Leu)	ZNF264 (M262L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194761	NM_003417.5(ZNF264):c.736C>G (p.Leu246Val)	ZNF264 (L246V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194760	NM_003417.5(ZNF264):c.71C>G (p.Thr24Ser)	ZNF264 (T24S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194758	NM_003417.5(ZNF264):c.661C>T (p.His221Tyr)	ZNF264 (H221Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194757	NM_003417.5(ZNF264):c.598G>A (p.Glu200Lys)	ZNF264 (E200K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194756	NM_003417.5(ZNF264):c.26G>C (p.Arg9Pro)	LOC130065167, ZNF264 (R9P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194755	NM_003417.5(ZNF264):c.1517G>A (p.Ser506Asn)	ZNF264 (S506N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194752	NM_003417.5(ZNF264):c.1231C>G (p.Arg411Gly)	ZNF264 (R411G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194751	NM_003417.5(ZNF264):c.107G>A (p.Arg36Gln)	ZNF264 (R36Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194750	NM_003417.5(ZNF264):c.1022A>C (p.Asn341Thr)	ZNF264 (N341T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194749	NM_003417.5(ZNF264):c.1016G>C (p.Gly339Ala)	ZNF264 (G339A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3039214	NM_003417.5(ZNF264):c.1456G>A (p.Val486Met)	ZNF264 (V486M)	Single nucleotide variant (missense variant)	ZNF264-related disorder	GLikely benign
Select item 2618829	NM_003417.5(ZNF264):c.562T>G (p.Cys188Gly)	ZNF264 (C188G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589889	NM_003417.5(ZNF264):c.1160T>A (p.Ile387Asn)	ZNF264 (I387N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589568	NM_003417.5(ZNF264):c.1664C>T (p.Thr555Ile)	ZNF264 (T555I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549300	NM_003417.5(ZNF264):c.304G>A (p.Ala102Thr)	ZNF264 (A102T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543484	NM_003417.5(ZNF264):c.1360C>G (p.Pro454Ala)	ZNF264 (P454A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539537	NM_003417.5(ZNF264):c.195C>A (p.His65Gln)	ZNF264 (H65Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2529365	NM_003417.5(ZNF264):c.1567A>T (p.Ser523Cys)	ZNF264 (S523C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524796	NM_003417.5(ZNF264):c.1120A>G (p.Ser374Gly)	ZNF264 (S374G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524640	NM_003417.5(ZNF264):c.1102G>A (p.Glu368Lys)	ZNF264 (E368K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520731	NM_003417.5(ZNF264):c.1336A>G (p.Lys446Glu)	ZNF264 (K446E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518616	NM_003417.5(ZNF264):c.1504A>C (p.Lys502Gln)	ZNF264 (K502Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2488562	NM_003417.5(ZNF264):c.305C>T (p.Ala102Val)	ZNF264 (A102V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483222	NM_003417.5(ZNF264):c.722T>G (p.Ile241Ser)	ZNF264 (I241S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479011	NM_003417.5(ZNF264):c.1138T>G (p.Phe380Val)	ZNF264 (F380V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472576	NM_003417.5(ZNF264):c.1451A>T (p.Glu484Val)	ZNF264 (E484V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399700	NM_003417.5(ZNF264):c.1112A>G (p.Tyr371Cys)	ZNF264 (Y371C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391343	NM_003417.5(ZNF264):c.55G>A (p.Val19Met)	ZNF264 (V19M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391241	NM_003417.5(ZNF264):c.908T>A (p.Val303Asp)	ZNF264 (V303D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389353	NM_003417.5(ZNF264):c.420C>G (p.Phe140Leu)	ZNF264 (F140L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2386858	NM_003417.5(ZNF264):c.974G>A (p.Arg325Gln)	ZNF264 (R325Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382203	NM_003417.5(ZNF264):c.1028A>G (p.Tyr343Cys)	ZNF264 (Y343C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372689	NM_003417.5(ZNF264):c.1496C>T (p.Thr499Met)	ZNF264 (T499M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370323	NM_003417.5(ZNF264):c.1739A>G (p.Gln580Arg)	ZNF264 (Q580R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364097	NM_003417.5(ZNF264):c.1487C>T (p.Ser496Leu)	ZNF264 (S496L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355985	NM_003417.5(ZNF264):c.1427T>C (p.Ile476Thr)	ZNF264 (I476T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344635	NM_003417.5(ZNF264):c.1414C>T (p.Arg472Cys)	ZNF264 (R472C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343139	NM_003417.5(ZNF264):c.1616A>G (p.Tyr539Cys)	ZNF264 (Y539C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304274	NM_003417.5(ZNF264):c.1673A>G (p.Gln558Arg)	ZNF264 (Q558R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283799	NM_003417.5(ZNF264):c.85G>A (p.Gly29Arg)	ZNF264 (G29R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274485	NM_003417.5(ZNF264):c.1759G>C (p.Glu587Gln)	ZNF264 (E587Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269589	NM_003417.5(ZNF264):c.1232G>A (p.Arg411Gln)	ZNF264 (R411Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250373	NM_003417.5(ZNF264):c.1400G>A (p.Arg467Gln)	ZNF264 (R467Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243137	NM_003417.5(ZNF264):c.1522G>C (p.Glu508Gln)	ZNF264 (E508Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242292	NM_003417.5(ZNF264):c.1340G>A (p.Arg447Lys)	ZNF264 (R447K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225253	NM_003417.5(ZNF264):c.1804A>G (p.Asn602Asp)	ZNF264 (N602D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209609	NM_003417.5(ZNF264):c.470A>G (p.Glu157Gly)	ZNF264 (E157G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 816097	GRCh37/hg19 19q13.43(chr19:57671695-57745390)x1	ZNF264, DUXA +1 more	Copy number loss	not provided	GUncertain significance
Select item 685831	GRCh37/hg19 19q13.43(chr19:57590808-57745390)x3	AURKC, DUXA +3 more	Copy number gain	not provided	GUncertain significance
Select item 685408	GRCh37/hg19 19q13.43(chr19:57718739-57760953)x1	AURKC, ZNF264 +1 more	Copy number loss	not provided	GUncertain significance
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 564590	GRCh37/hg19 19q13.43(chr19:57718739-58058739)x1	VN1R1, AURKC +14 more	Copy number loss	not provided	GUncertain significance
Select item 560105	Single allele	ZNF805, ZNF17 +11 more	Duplication	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 153721	GRCh38/hg38 19q13.41-13.43(chr19:52143873-58445521)x3	A1BG, A1BG-AS1 +547 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 151461	GRCh38/hg38 19q13.43(chr19:57167550-57236826)x1	AURKC, LOC130065162 +6 more	Copy number loss	See cases	GUncertain significance
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 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 59128	GRCh38/hg38 19q13.43(chr19:56363208-58581203)x3	A1BG, A1BG-AS1 +215 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: 80