ClinVar for Gene (Select 388558) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3366915	NM_001039886.4(ZNF808):c.2309del (p.Asn770fs)	ZNF808 (N701fs +1 more)	Deletion (frameshift variant)	PANCREATIC AGENESIS 3	GPathogenic
Select item 3366914	Y528*	ZNF808	Single nucleotide variant	PANCREATIC AGENESIS 3	GPathogenic
Select item 3366913	NM_001039886.4(ZNF808):c.1136del (p.Ala379fs)	ZNF808 (A310fs +1 more)	Deletion (frameshift variant)	PANCREATIC AGENESIS 3	GPathogenic
Select item 3366912	NM_001039886.4(ZNF808):c.696_697del (p.Pro232_Cys233insTer)	ZNF808	Deletion (frameshift variant)	PANCREATIC AGENESIS 3	GPathogenic
Select item 3366911	ZNF808, EX4-5DEL	ZNF808	Deletion	PANCREATIC AGENESIS 3	GPathogenic
Select item 3366910	NM_001039886.4(ZNF808):c.637del (p.Pro212_Leu213insTer)	ZNF808	Deletion (nonsense)	PANCREATIC AGENESIS 3	GPathogenic
Select item 3259647	NM_001039886.4(ZNF808):c.379G>A (p.Ala127Thr)	ZNF808 (A127T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3259645	NM_001039886.4(ZNF808):c.374A>T (p.His125Leu)	ZNF808 (H56L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3259644	NM_001039886.4(ZNF808):c.593G>A (p.Cys198Tyr)	ZNF808 (C198Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3259643	NM_001039886.4(ZNF808):c.1046G>C (p.Gly349Ala)	ZNF808 (G280A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3259642	NM_001039886.4(ZNF808):c.2176C>T (p.Arg726Cys)	ZNF808 (R726C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3259641	NM_001039886.4(ZNF808):c.1547G>A (p.Cys516Tyr)	ZNF808 (C447Y +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3259640	NM_001039886.4(ZNF808):c.1354G>A (p.Glu452Lys)	ZNF808 (E383K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3259639	NM_001039886.4(ZNF808):c.1006A>G (p.Ile336Val)	ZNF808 (I267V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3259638	NM_001039886.4(ZNF808):c.1466G>A (p.Arg489His)	ZNF808 (R420H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3259637	NM_001039886.4(ZNF808):c.1898C>T (p.Thr633Met)	ZNF808 (T564M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3259636	NM_001039886.4(ZNF808):c.609T>G (p.His203Gln)	ZNF808 (H134Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3259634	NM_001039886.4(ZNF808):c.605T>C (p.Ile202Thr)	ZNF808 (I202T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3259633	NM_001039886.4(ZNF808):c.1568G>A (p.Arg523Gln)	ZNF808 (R454Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198570	NM_001039886.4(ZNF808):c.970T>G (p.Phe324Val)	ZNF808 (F255V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198569	NM_001039886.4(ZNF808):c.881A>G (p.Lys294Arg)	ZNF808 (K225R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198568	NM_001039886.4(ZNF808):c.856C>A (p.Pro286Thr)	ZNF808 (P217T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198567	NM_001039886.4(ZNF808):c.7C>T (p.Arg3Cys)	ZNF808 (R3C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3198566	NM_001039886.4(ZNF808):c.728G>C (p.Ser243Thr)	ZNF808 (S243T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198565	NM_001039886.4(ZNF808):c.703G>A (p.Glu235Lys)	ZNF808 (E235K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198564	NM_001039886.4(ZNF808):c.620A>G (p.Asn207Ser)	ZNF808 (N138S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198562	NM_001039886.4(ZNF808):c.290A>G (p.His97Arg)	ZNF808 (H28R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198561	NM_001039886.4(ZNF808):c.2659C>T (p.Arg887Trp)	ZNF808 (R818W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198560	NM_001039886.4(ZNF808):c.2585T>C (p.Leu862Pro)	ZNF808 (L793P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198558	NM_001039886.4(ZNF808):c.230C>G (p.Thr77Arg)	ZNF808 (T77R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198557	NM_001039886.4(ZNF808):c.2177G>A (p.Arg726His)	ZNF808 (R726H +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3198556	NM_001039886.4(ZNF808):c.2168T>C (p.Val723Ala)	ZNF808 (V654A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198555	NM_001039886.4(ZNF808):c.2092A>G (p.Thr698Ala)	ZNF808 (T698A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198553	NM_001039886.4(ZNF808):c.1748C>T (p.Ser583Leu)	ZNF808 (S583L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198552	NM_001039886.4(ZNF808):c.1592G>T (p.Arg531Ile)	ZNF808 (R462I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198551	NM_001039886.4(ZNF808):c.131C>G (p.Ala44Gly)	ZNF808 (A44G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3198550	NM_001039886.4(ZNF808):c.1019A>C (p.Glu340Ala)	ZNF808 (E340A +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 2622448	NM_001039886.4(ZNF808):c.2551G>A (p.Ala851Thr)	ZNF808 (A851T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598891	NM_001039886.4(ZNF808):c.2429T>C (p.Ile810Thr)	ZNF808 (I810T +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2591129	NM_001039886.4(ZNF808):c.597G>T (p.Arg199Ser)	ZNF808 (R199S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588382	NM_001039886.4(ZNF808):c.2023G>A (p.Gly675Arg)	ZNF808 (G606R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2568129	NM_001039886.4(ZNF808):c.1647G>T (p.Met549Ile)	ZNF808 (M549I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547990	NM_001039886.4(ZNF808):c.848G>T (p.Gly283Val)	ZNF808 (G283V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545868	NM_001039886.4(ZNF808):c.334A>G (p.Asn112Asp)	ZNF808 (N112D +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2536909	NM_001039886.4(ZNF808):c.205C>T (p.His69Tyr)	ZNF808 (H69Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2521726	NM_001039886.4(ZNF808):c.2381C>T (p.Thr794Met)	ZNF808 (T725M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2505171	NM_001039886.4(ZNF808):c.1448dup (p.Tyr483Ter)	ZNF808 (Y414* +1 more)	Duplication (nonsense)	See cases	GLikely pathogenic
Select item 2491369	NM_001039886.4(ZNF808):c.1795G>A (p.Ala599Thr)	ZNF808 (A599T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491262	NM_001039886.4(ZNF808):c.1480C>T (p.Arg494Cys)	ZNF808 (R494C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484039	NM_001039886.4(ZNF808):c.1247G>A (p.Arg416His)	ZNF808 (R416H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471936	NM_001039886.4(ZNF808):c.2072G>A (p.Arg691His)	ZNF808 (R622H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469783	NM_001039886.4(ZNF808):c.1751G>A (p.Arg584His)	ZNF808 (R515H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460671	NM_001039886.4(ZNF808):c.269T>C (p.Leu90Ser)	ZNF808 (L21S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456601	NM_001039886.4(ZNF808):c.302T>G (p.Phe101Cys)	ZNF808 (F101C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455676	NM_001039886.4(ZNF808):c.1750C>T (p.Arg584Cys)	ZNF808 (R515C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411141	NM_001039886.4(ZNF808):c.1955A>G (p.Lys652Arg)	ZNF808 (K583R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390819	NM_001039886.4(ZNF808):c.2525C>T (p.Thr842Ile)	ZNF808 (T773I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382271	NM_001039886.4(ZNF808):c.2021G>A (p.Gly674Asp)	ZNF808 (G674D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382222	NM_001039886.4(ZNF808):c.193A>G (p.Ile65Val)	ZNF808 (I65V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2379457	NM_001039886.4(ZNF808):c.575C>A (p.Thr192Lys)	ZNF808 (T123K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368485	NM_001039886.4(ZNF808):c.787G>A (p.Val263Ile)	ZNF808 (V194I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365652	NM_001039886.4(ZNF808):c.2180G>T (p.Arg727Ile)	ZNF808 (R658I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363560	NM_001039886.4(ZNF808):c.1582T>A (p.Tyr528Asn)	ZNF808 (Y459N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362732	NM_001039886.4(ZNF808):c.1549G>T (p.Gly517Cys)	ZNF808 (G448C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355974	NM_001039886.4(ZNF808):c.2345G>A (p.Arg782His)	ZNF808 (R713H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354431	NM_001039886.4(ZNF808):c.695C>A (p.Pro232Gln)	ZNF808 (P232Q +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2341300	NM_001039886.4(ZNF808):c.386C>T (p.Thr129Met)	ZNF808 (T129M +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2334477	NM_001039886.4(ZNF808):c.586A>G (p.Ile196Val)	ZNF808 (I127V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329934	NM_001039886.4(ZNF808):c.111G>T (p.Glu37Asp)	ZNF808 (E37D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2302811	NM_001039886.4(ZNF808):c.1181G>T (p.Ser394Ile)	ZNF808 (S325I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280110	NM_001039886.4(ZNF808):c.2071C>T (p.Arg691Cys)	ZNF808 (R622C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267472	NM_001039886.4(ZNF808):c.713A>G (p.Lys238Arg)	ZNF808 (K238R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260928	NM_001039886.4(ZNF808):c.2569A>G (p.Ser857Gly)	ZNF808 (S788G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245530	NM_001039886.4(ZNF808):c.52G>A (p.Ala18Thr)	ZNF808 (A18T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2226851	NM_001039886.4(ZNF808):c.59C>T (p.Pro20Leu)	ZNF808 (P20L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2226447	NM_001039886.4(ZNF808):c.887T>G (p.Phe296Cys)	ZNF808 (F296C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222175	NM_001039886.4(ZNF808):c.2665A>G (p.Thr889Ala)	ZNF808 (T889A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209641	NM_001039886.4(ZNF808):c.338T>C (p.Ile113Thr)	ZNF808 (I113T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207810	NM_001039886.4(ZNF808):c.1567C>T (p.Arg523Trp)	ZNF808 (R523W +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2207447	NM_001039886.4(ZNF808):c.1561C>T (p.Arg521Cys)	ZNF808 (R521C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 980770	GRCh37/hg19 19q13.41(chr19:52987284-53052558)x1	ZNF578, ZNF808 +1 more	Copy number loss	not provided	GLikely benign
Select item 980769	GRCh37/hg19 19q13.41(chr19:53057478-53428612)x1	ZNF28, ZNF320 +7 more	Copy number loss	not provided	GLikely benign
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 785643	NM_001039886.4(ZNF808):c.402G>C (p.Lys134Asn)	ZNF808 (K65N +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 784840	NM_001039886.4(ZNF808):c.2672T>C (p.Ile891Thr)	ZNF808 (I891T +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 778855	NM_001039886.4(ZNF808):c.1323C>T (p.Thr441=)	ZNF808	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 778854	NM_001039886.4(ZNF808):c.1020G>A (p.Glu340=)	ZNF808	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 394181	GRCh37/hg19 19q13.41(chr19:53002514-53030962)x3	ZNF578, ZNF808 +1 more	Copy number gain	See cases	GLikely benign
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 146579	GRCh38/hg38 19q13.33-13.43(chr19:50152520-58581203)x3	OSCAR, PEG3 +782 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

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