ClinVar for Gene (Select 199221) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 1 to 100 of 230

<< First< Prev

Page of 3

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3274263	NM_173543.3(DZIP1L):c.1021G>C (p.Val341Leu)	DZIP1L (V341L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3274262	NM_173543.3(DZIP1L):c.1154G>A (p.Arg385His)	DZIP1L (R385H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3274261	NM_173543.3(DZIP1L):c.1459C>A (p.Leu487Met)	DZIP1L (L487M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3274260	NM_173543.3(DZIP1L):c.418C>T (p.Arg140Trp)	DZIP1L (R140W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3274259	NM_173543.3(DZIP1L):c.982G>A (p.Glu328Lys)	DZIP1L (E328K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3254571	NM_173543.3(DZIP1L):c.1570C>T (p.Gln524Ter)	DZIP1L (Q524*)	Single nucleotide variant (nonsense)	Polycystic kidney disease 5	GLikely pathogenic
Select item 3247063	NC_000003.11:g.(?_137796321)_(137796494_?)del	DZIP1L	Deletion	not provided	GPathogenic
Select item 3086709	NM_173543.3(DZIP1L):c.877C>T (p.Arg293Trp)	DZIP1L (R293W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3086708	NM_173543.3(DZIP1L):c.823T>C (p.Trp275Arg)	DZIP1L (W275R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3086707	NM_173543.3(DZIP1L):c.725A>G (p.His242Arg)	DZIP1L (H242R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3086706	NM_173543.3(DZIP1L):c.6G>T (p.Gln2His)	DZIP1L (Q2H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3086705	NM_173543.3(DZIP1L):c.637C>T (p.Arg213Trp)	DZIP1L (R213W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3086704	NM_173543.3(DZIP1L):c.604G>C (p.Glu202Gln)	DZIP1L (E202Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3086703	NM_173543.3(DZIP1L):c.560G>A (p.Arg187His)	DZIP1L (R187H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3086701	NM_173543.3(DZIP1L):c.392G>A (p.Arg131His)	DZIP1L (R131H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3086700	NM_173543.3(DZIP1L):c.34A>C (p.Ser12Arg)	DZIP1L (S12R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3086699	NM_173543.3(DZIP1L):c.2204A>G (p.Asp735Gly)	DZIP1L (D735G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3086698	NM_173543.3(DZIP1L):c.1817C>T (p.Ser606Leu)	DZIP1L (S606L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3086697	NM_173543.3(DZIP1L):c.1796C>T (p.Pro599Leu)	DZIP1L (P599L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3086696	NM_173543.3(DZIP1L):c.176T>C (p.Ile59Thr)	DZIP1L (I59T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3086695	NM_173543.3(DZIP1L):c.1745C>G (p.Ser582Cys)	DZIP1L (S582C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3086694	NM_173543.3(DZIP1L):c.1148C>T (p.Thr383Ile)	DZIP1L (T383I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3065597	NM_173543.3(DZIP1L):c.2014C>T (p.Gln672Ter)	DZIP1L (Q672*)	Single nucleotide variant (nonsense)	Polycystic kidney disease 5	GLikely pathogenic
Select item 3058098	NM_173543.3(DZIP1L):c.345G>A (p.Leu115=)	DZIP1L	Single nucleotide variant (synonymous variant)	DZIP1L-related disorder	GLikely benign
Select item 3054762	NM_173543.3(DZIP1L):c.1836G>T (p.Thr612=)	DZIP1L	Single nucleotide variant (synonymous variant)	DZIP1L-related disorder	GLikely benign
Select item 3053305	NM_173543.3(DZIP1L):c.1063-5G>T	DZIP1L	Single nucleotide variant (intron variant)	DZIP1L-related disorder	GLikely benign
Select item 3049535	NM_173543.3(DZIP1L):c.2097C>T (p.Pro699=)	DZIP1L	Single nucleotide variant (synonymous variant)	DZIP1L-related disorder	GLikely benign
Select item 3048613	NM_173543.3(DZIP1L):c.2040G>A (p.Lys680=)	DZIP1L	Single nucleotide variant (synonymous variant)	DZIP1L-related disorder	GLikely benign
Select item 3030429	NM_173543.3(DZIP1L):c.1483C>T (p.Arg495Trp)	DZIP1L (R495W)	Single nucleotide variant (missense variant)	DZIP1L-related disorder	GUncertain significance
Select item 3022175	NM_173543.3(DZIP1L):c.1235-20A>G	DZIP1L	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3006157	NM_173543.3(DZIP1L):c.1734C>A (p.Gly578=)	DZIP1L	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2995770	NM_173543.3(DZIP1L):c.1650G>C (p.Glu550Asp)	DZIP1L (E550D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2976966	NM_173543.3(DZIP1L):c.999+10T>C	DZIP1L	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2975569	NM_173543.3(DZIP1L):c.1072G>T (p.Glu358Ter)	DZIP1L (E358*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2971160	NM_173543.3(DZIP1L):c.1063-16A>G	DZIP1L	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2969086	NM_173543.3(DZIP1L):c.870+1G>A	DZIP1L	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2966227	NM_173543.3(DZIP1L):c.1423-11G>C	DZIP1L	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2963663	NM_173543.3(DZIP1L):c.981A>G (p.Arg327=)	DZIP1L	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2963630	NM_173543.3(DZIP1L):c.1062+11T>C	DZIP1L	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2962304	NM_173543.3(DZIP1L):c.708+17_708+18dup	DZIP1L	Duplication (intron variant)	not provided	GLikely benign
Select item 2955711	NM_173543.3(DZIP1L):c.1204-17A>C	DZIP1L	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2905211	NM_173543.3(DZIP1L):c.1593C>G (p.Ser531=)	DZIP1L	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2888989	NM_173543.3(DZIP1L):c.135C>T (p.Arg45=)	DZIP1L	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2888446	NM_173543.3(DZIP1L):c.573C>T (p.Gly191=)	DZIP1L	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2870655	NM_173543.3(DZIP1L):c.1902A>T (p.Pro634=)	DZIP1L	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2862547	NM_173543.3(DZIP1L):c.1860C>T (p.Asp620=)	DZIP1L	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2823864	NM_173543.3(DZIP1L):c.2143-12del	DZIP1L	Deletion (intron variant)	not provided	GLikely benign
Select item 2716145	NM_173543.3(DZIP1L):c.1842G>A (p.Pro614=)	DZIP1L	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2654186	NM_173543.3(DZIP1L):c.1005G>A (p.Thr335=)	DZIP1L	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2631039	NM_173543.3(DZIP1L):c.703_708+8del	DZIP1L	Deletion (splice donor variant)	DZIP1L-related disorder	GUncertain significance
Select item 2616879	NM_173543.3(DZIP1L):c.322G>A (p.Val108Ile)	DZIP1L (V108I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2615814	NM_173543.3(DZIP1L):c.1091C>G (p.Ala364Gly)	DZIP1L (A364G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2606518	NM_173543.3(DZIP1L):c.910A>C (p.Lys304Gln)	DZIP1L (K304Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2597511	NM_173543.3(DZIP1L):c.1920G>A (p.Met640Ile)	DZIP1L (M640I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2584786	NM_173543.3(DZIP1L):c.1000-4T>C	DZIP1L	Single nucleotide variant (intron variant)	Polycystic kidney disease 5	GUncertain significance
Select item 2526056	NM_173543.3(DZIP1L):c.693G>T (p.Arg231Ser)	DZIP1L (R231S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2525556	NM_173543.3(DZIP1L):c.1835C>T (p.Thr612Met)	DZIP1L (T612M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2512225	NM_173543.3(DZIP1L):c.1570C>G (p.Gln524Glu)	DZIP1L (Q524E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2493771	NM_173543.3(DZIP1L):c.1193A>C (p.Gln398Pro)	DZIP1L (Q398P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2443118	NM_173543.3(DZIP1L):c.2047G>T (p.Glu683Ter)	DZIP1L (E683*)	Single nucleotide variant (nonsense)	not specified	GUncertain significance
Select item 2443117	NM_173543.3(DZIP1L):c.1268_1269del (p.Glu423fs)	DZIP1L (E423fs)	Microsatellite (frameshift variant)	not provided	GLikely pathogenic
Select item 2427502	NC_000003.11:g.(?_137781658)_(137803115_?)dup	DZIP1L	Duplication	not provided	GUncertain significance
Select item 2426786	NC_000003.11:g.(?_137781658)_(138665815_?)del	A4GNT, ARMC8 +9 more	Deletion	not provided	GPathogenic
Select item 2419224	NM_173543.3(DZIP1L):c.1765G>A (p.Ala589Thr)	DZIP1L (A589T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2418222	NM_173543.3(DZIP1L):c.396G>C (p.Gln132His)	DZIP1L (Q132H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2417717	NM_173543.3(DZIP1L):c.1697C>T (p.Pro566Leu)	DZIP1L (P566L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2409670	NM_173543.3(DZIP1L):c.1825G>A (p.Gly609Arg)	DZIP1L (G609R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2395466	NM_173543.3(DZIP1L):c.205C>T (p.Arg69Trp)	DZIP1L (R69W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2360990	NM_173543.3(DZIP1L):c.2239A>G (p.Lys747Glu)	DZIP1L (K747E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2328412	NM_173543.3(DZIP1L):c.1742G>T (p.Gly581Val)	DZIP1L (G581V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2327349	NM_173543.3(DZIP1L):c.1825G>T (p.Gly609Trp)	DZIP1L (G609W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2327348	NM_173543.3(DZIP1L):c.1081A>G (p.Arg361Gly)	DZIP1L (R361G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2324305	NM_173543.3(DZIP1L):c.1558G>A (p.Ala520Thr)	DZIP1L (A520T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2313835	NM_173543.3(DZIP1L):c.217A>G (p.Ser73Gly)	DZIP1L (S73G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2300318	NM_173543.3(DZIP1L):c.607C>G (p.Gln203Glu)	DZIP1L (Q203E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2286528	NM_173543.3(DZIP1L):c.2234G>A (p.Arg745His)	DZIP1L (R745H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2285709	NM_173543.3(DZIP1L):c.1216T>C (p.Ser406Pro)	DZIP1L (S406P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2274102	NM_173543.3(DZIP1L):c.1543G>C (p.Glu515Gln)	DZIP1L (E515Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2270302	NM_173543.3(DZIP1L):c.2117C>A (p.Ala706Asp)	DZIP1L (A706D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2253170	NM_173543.3(DZIP1L):c.1987C>T (p.Pro663Ser)	DZIP1L (P663S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2245788	NM_173543.3(DZIP1L):c.1873C>T (p.Arg625Cys)	DZIP1L (R625C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2239930	NM_173543.3(DZIP1L):c.833T>A (p.Phe278Tyr)	DZIP1L (F278Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2226231	NM_173543.3(DZIP1L):c.430C>T (p.Arg144Cys)	DZIP1L (R144C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2219841	NM_173543.3(DZIP1L):c.574G>A (p.Val192Met)	DZIP1L (V192M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2208579	NM_173543.3(DZIP1L):c.431G>A (p.Arg144His)	DZIP1L (R144H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2202059	NM_173543.3(DZIP1L):c.1499G>A (p.Arg500Gln)	DZIP1L (R500Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2199852	NM_173543.3(DZIP1L):c.1739A>G (p.His580Arg)	DZIP1L (H580R)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 2189871	NM_173543.3(DZIP1L):c.1653C>G (p.Ala551=)	DZIP1L	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2189715	NM_173543.3(DZIP1L):c.1541A>G (p.Lys514Arg)	DZIP1L (K514R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2180314	NM_173543.3(DZIP1L):c.1833-7G>A	DZIP1L	Single nucleotide variant (intron variant)	DZIP1L-related disorder +1 more	GLikely benign
Select item 2176458	NM_173543.3(DZIP1L):c.1833-8C>T	DZIP1L	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 2166480	NM_173543.3(DZIP1L):c.544C>T (p.Arg182Trp)	DZIP1L (R182W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2165493	NM_173543.3(DZIP1L):c.1874G>A (p.Arg625His)	DZIP1L (R625H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2157128	NM_173543.3(DZIP1L):c.2288G>C (p.Arg763Thr)	DZIP1L (R763T)	Single nucleotide variant (missense variant)	DZIP1L-related disorder +1 more	GBenign/Likely benign
Select item 2155159	NM_173543.3(DZIP1L):c.1833-7G>C	DZIP1L	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2144658	NM_173543.3(DZIP1L):c.434G>A (p.Arg145Gln)	DZIP1L (R145Q)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2099834	NM_173543.3(DZIP1L):c.346C>A (p.Gln116Lys)	DZIP1L (Q116K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2089903	NM_173543.3(DZIP1L):c.1289-19T>C	DZIP1L	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2087097	NM_173543.3(DZIP1L):c.1771G>A (p.Ala591Thr)	DZIP1L (A591T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2084229	NM_173543.3(DZIP1L):c.1616-3C>T	DZIP1L	Single nucleotide variant (intron variant)	not provided	GUncertain significance

<< First< Prev

Page of 3