ZNF606[gene] - ClinVar

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Items: 68

	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 153557	GRCh38/hg38 19q13.43(chr19:56353449-58445521)x3	A1BG, A1BG-AS1 +179 more	Copy number gain	See cases	GUncertain significance
Select item 59128	GRCh38/hg38 19q13.43(chr19:56363208-58581203)x3	A1BG, A1BG-AS1 +215 more	Copy number gain	See cases	GPathogenic
Select item 3258867	NM_001348022.3(ZNF606):c.2349G>C (p.Gln783His)	ZNF606 (Q783H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590495	NM_001348022.3(ZNF606):c.2288G>A (p.Arg763His)	ZNF606 (R763H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488086	NM_001348022.3(ZNF606):c.2258T>C (p.Ile753Thr)	ZNF606 (I663T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270041	NM_001348022.3(ZNF606):c.2254A>G (p.Ile752Val)	ZNF606 (I594V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399968	NM_001348022.3(ZNF606):c.2152A>C (p.Asn718His)	ZNF606 (N628H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 92015	NM_001348022.3(ZNF606):c.2099G>C (p.Arg700Thr)	ZNF606 (R700T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3258868	NM_001348022.3(ZNF606):c.2096G>A (p.Arg699Gln)	ZNF606 (R541Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3258865	NM_001348022.3(ZNF606):c.2095C>T (p.Arg699Trp)	ZNF606 (R609W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197114	NM_001348022.3(ZNF606):c.2012G>A (p.Arg671Gln)	ZNF606 (R513Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340873	NM_001348022.3(ZNF606):c.1979C>T (p.Ser660Phe)	ZNF606 (S660F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2568657	NM_001348022.3(ZNF606):c.1865A>G (p.Lys622Arg)	ZNF606 (K464R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 736584	NM_001348022.3(ZNF606):c.1773G>A (p.Thr591=)	ZNF606	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2330243	NM_001348022.3(ZNF606):c.1756C>T (p.His586Tyr)	ZNF606 (H428Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3258870	NM_001348022.3(ZNF606):c.1583T>C (p.Ile528Thr)	ZNF606 (I370T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197113	NM_001348022.3(ZNF606):c.1451A>G (p.Tyr484Cys)	ZNF606 (Y326C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 785645	NM_001348022.3(ZNF606):c.1353T>A (p.Thr451=)	ZNF606	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3197112	NM_001348022.3(ZNF606):c.1343G>A (p.Arg448Gln)	ZNF606 (R448Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197111	NM_001348022.3(ZNF606):c.1291G>C (p.Asp431His)	ZNF606 (D341H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466036	NM_001348022.3(ZNF606):c.1255A>C (p.Lys419Gln)	ZNF606 (K419Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197110	NM_001348022.3(ZNF606):c.1253A>G (p.His418Arg)	ZNF606 (H260R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197109	NM_001348022.3(ZNF606):c.1234A>C (p.Ser412Arg)	ZNF606 (S322R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466561	NM_001348022.3(ZNF606):c.1120T>C (p.Tyr374His)	ZNF606 (Y216H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354156	NM_001348022.3(ZNF606):c.1091A>C (p.Lys364Thr)	ZNF606 (K364T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268728	NM_001348022.3(ZNF606):c.1051G>A (p.Glu351Lys)	ZNF606 (E351K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 781900	NM_001348022.3(ZNF606):c.1009A>C (p.Arg337=)	ZNF606	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3197122	NM_001348022.3(ZNF606):c.986G>A (p.Ser329Asn)	ZNF606 (S171N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341363	NM_001348022.3(ZNF606):c.920A>G (p.His307Arg)	ZNF606 (H149R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197121	NM_001348022.3(ZNF606):c.902T>C (p.Ile301Thr)	ZNF606 (I143T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197119	NM_001348022.3(ZNF606):c.704A>C (p.Glu235Ala)	ZNF606 (E235A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399624	NM_001348022.3(ZNF606):c.598A>C (p.Met200Leu)	ZNF606 (M110L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197118	NM_001348022.3(ZNF606):c.580A>G (p.Met194Val)	ZNF606 (M194V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552686	NM_001348022.3(ZNF606):c.572G>C (p.Ser191Thr)	ZNF606 (S101T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317377	NM_001348022.3(ZNF606):c.555G>A (p.Met185Ile)	ZNF606 (M27I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 785646	NM_001348022.3(ZNF606):c.546A>G (p.Gln182=)	ZNF606	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3197117	NM_001348022.3(ZNF606):c.475A>C (p.Met159Leu)	ZNF606 (M69L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3258872	NM_001348022.3(ZNF606):c.463C>G (p.Gln155Glu)	ZNF606 (Q155E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2531463	NM_001348022.3(ZNF606):c.388C>T (p.Arg130Cys)	ZNF606 (R40C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3258869	NM_001348022.3(ZNF606):c.373C>A (p.Gln125Lys)	ZNF606 (Q125K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2620679	NM_001348022.3(ZNF606):c.367G>A (p.Val123Met)	ZNF606 (V123M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2650581	NM_001348022.3(ZNF606):c.189C>T (p.Thr63=)	ZNF606	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2619157	NM_001348022.3(ZNF606):c.179A>C (p.Glu60Ala)	ZNF606 (E60A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3258866	NM_001348022.3(ZNF606):c.167C>T (p.Ala56Val)	ZNF606 (A56V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2520281	NM_001348022.3(ZNF606):c.140G>A (p.Gly47Glu)	ZNF606 (G47E)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2558247	NM_001348022.3(ZNF606):c.38T>G (p.Leu13Arg)	ZNF606 (L13R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3197116	NM_001348022.3(ZNF606):c.34G>C (p.Ala12Pro)	ZNF606 (A12P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3197115	NM_001348022.3(ZNF606):c.30G>T (p.Trp10Cys)	ZNF606 (W10C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 689096	GRCh37/hg19 19q13.43(chr19:58369898-58590859)x3	C19orf18, ZNF135 +7 more	Copy number gain	not provided	GUncertain significance
Select item 688389	GRCh37/hg19 19q13.43(chr19:58092045-58686148)x3	C19orf18, ZIK1 +21 more	Copy number gain	not provided	GUncertain significance
Select item 687845	GRCh37/hg19 19q13.43(chr19:58369898-58590924)x3	C19orf18, ZNF135 +7 more	Copy number gain	not provided	GUncertain significance
Select item 685397	GRCh37/hg19 19q13.43(chr19:57952073-58661581)x3	C19orf18, VN1R1 +29 more	Copy number gain	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 564595	GRCh37/hg19 19q13.43(chr19:57891243-58536930)x3	ZNF814, ZSCAN4 +27 more	Copy number gain	not provided	GLikely benign
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 253827	GRCh37/hg19 19q13.43(chr19:58458999-58929684)x3	ZNF329, ZNF135 +14 more	Copy number gain	See cases	GUncertain significance

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Items: 68