DZIP1L[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154258	GRCh38/hg38 3q11.1-24(chr3:93800620-145695381)x3	AMOTL2, DNAJC13 +1343 more	Copy number gain	See cases	GPathogenic
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	BPESC1, BTLA +2645 more	Copy number gain	See cases	GPathogenic
Select item 153723	GRCh38/hg38 3q21.3-23(chr3:126106779-140918089)x3	ALDH1L1, ALDH1L1-AS1 +484 more	Copy number gain	See cases	GUncertain significance
Select item 152454	GRCh38/hg38 3q22.1-23(chr3:129817243-141425155)x1	A4GNT, ACAD11 +282 more	Copy number loss	See cases	GPathogenic
Select item 147358	GRCh38/hg38 3q22.1-24(chr3:129817243-143381624)x1	ARMC8, ASTE1 +345 more	Copy number loss	See cases	GPathogenic
Select item 150380	GRCh38/hg38 3q22.1-23(chr3:130401265-139005019)x1	A4GNT, ACAD11 +212 more	Copy number loss	See cases	GPathogenic
Select item 155567	GRCh38/hg38 3q22.1-24(chr3:132716978-144784743)x1	A4GNT, AMOTL2 +301 more	Copy number loss	See cases	GPathogenic
Select item 149077	GRCh38/hg38 3q22.2-25.1(chr3:134257180-149729538)x1	LOC129937661, LOC129937662 +320 more	Copy number loss	See cases	GPathogenic
Select item 151765	GRCh38/hg38 3q22.2-23(chr3:134333553-141701458)x1	A4GNT, AMOTL2 +167 more	Copy number loss	See cases	GPathogenic
Select item 57832	GRCh38/hg38 3q22.2-24(chr3:135227451-145870770)x1	A4GNT, ARMC8 +221 more	Copy number loss	See cases	GPathogenic
Select item 57794	GRCh38/hg38 3q22.3(chr3:137593514-138443019)x3	A4GNT, ARMC8 +16 more	Copy number gain	See cases	GUncertain significance
Select item 145313	GRCh38/hg38 3q22.3-24(chr3:137932000-144468739)x1	A4GNT, ARMC8 +171 more	Copy number loss	See cases	GPathogenic
Select item 150251	GRCh38/hg38 3q22.3-24(chr3:137991123-143618786)x1	A4GNT, ARMC8 +155 more	Copy number loss	See cases	GPathogenic
Select item 1801066	NM_173543.3(DZIP1L):c.2300G>A (p.Trp767Ter)	DZIP1L (W767*)	Single nucleotide variant (nonsense)	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 condition +1 more	GBenign/Likely benign
Select item 722788	NM_173543.3(DZIP1L):c.2284C>T (p.Pro762Ser)	DZIP1L (P762S)	Single nucleotide variant (missense variant)	DZIP1L-related condition +1 more	GBenign/Likely benign
Select item 2081162	NM_173543.3(DZIP1L):c.2274C>T (p.Ser758=)	DZIP1L	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1503045	NM_173543.3(DZIP1L):c.2273G>A (p.Ser758Asn)	DZIP1L (S758N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2030511	NM_173543.3(DZIP1L):c.2255T>G (p.Phe752Cys)	DZIP1L (F752C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1462490	NM_173543.3(DZIP1L):c.2246C>A (p.Pro749Gln)	DZIP1L (P749Q)	Single nucleotide variant (missense variant)	not provided	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 2286528	NM_173543.3(DZIP1L):c.2234G>A (p.Arg745His)	DZIP1L (R745H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 775910	NM_173543.3(DZIP1L):c.2233C>T (p.Arg745Cys)	DZIP1L (R745C)	Single nucleotide variant (missense variant)	DZIP1L-related condition +1 more	GBenign/Likely benign
Select item 1927382	NM_173543.3(DZIP1L):c.2214G>A (p.Glu738=)	DZIP1L	Single nucleotide variant (synonymous variant)	DZIP1L-related condition +1 more	GLikely benign
Select item 1462795	NM_173543.3(DZIP1L):c.2194C>T (p.Leu732=)	DZIP1L	Single nucleotide variant (synonymous variant)	DZIP1L-related condition +1 more	GLikely benign
Select item 2001683	NM_173543.3(DZIP1L):c.2143-7C>G	DZIP1L	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1530784	NM_173543.3(DZIP1L):c.2143-10C>T	DZIP1L	Single nucleotide variant (intron 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 1896994	NM_173543.3(DZIP1L):c.2143-18C>T	DZIP1L	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1236019	NM_173543.3(DZIP1L):c.2143-104T>G	DZIP1L	Single nucleotide variant (intron variant)	not provided	GBenign
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 3049535	NM_173543.3(DZIP1L):c.2097C>T (p.Pro699=)	DZIP1L	Single nucleotide variant (synonymous variant)	DZIP1L-related condition	GLikely benign
Select item 1991762	NM_173543.3(DZIP1L):c.2089T>G (p.Phe697Val)	DZIP1L (F697V)	Single nucleotide variant (missense variant)	not provided	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 1961418	NM_173543.3(DZIP1L):c.2045T>C (p.Leu682Pro)	DZIP1L (L682P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3048613	NM_173543.3(DZIP1L):c.2040G>A (p.Lys680=)	DZIP1L	Single nucleotide variant (synonymous variant)	DZIP1L-related condition	GLikely benign
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 1407406	NM_173543.3(DZIP1L):c.2003-3C>G	DZIP1L	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2057997	NM_173543.3(DZIP1L):c.2003-10C>A	DZIP1L	Single nucleotide variant (intron variant)	DZIP1L-related condition +1 more	GBenign/Likely benign
Select item 1259838	NM_173543.3(DZIP1L):c.2003-91A>G	DZIP1L	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1958560	NM_173543.3(DZIP1L):c.2002G>T (p.Gly668Ter)	DZIP1L (G668*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
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 2045778	NM_173543.3(DZIP1L):c.1968G>A (p.Ser656=)	DZIP1L	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1521468	NM_173543.3(DZIP1L):c.1966T>G (p.Ser656Ala)	DZIP1L (S656A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1255184	NM_173543.3(DZIP1L):c.1933A>G (p.Lys645Glu)	DZIP1L (K645E)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1375766	NM_173543.3(DZIP1L):c.1927C>T (p.Arg643Trp)	DZIP1L (R643W)	Single nucleotide variant (missense variant)	DZIP1L-related condition +1 more	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 2870655	NM_173543.3(DZIP1L):c.1902A>T (p.Pro634=)	DZIP1L	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2046482	NM_173543.3(DZIP1L):c.1882C>T (p.Arg628Cys)	DZIP1L (R628C)	Single nucleotide variant (missense variant)	not provided +1 more	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 2245788	NM_173543.3(DZIP1L):c.1873C>T (p.Arg625Cys)	DZIP1L (R625C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2862547	NM_173543.3(DZIP1L):c.1860C>T (p.Asp620=)	DZIP1L	Single nucleotide variant (synonymous 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 3054762	NM_173543.3(DZIP1L):c.1836G>T (p.Thr612=)	DZIP1L	Single nucleotide variant (synonymous variant)	DZIP1L-related condition	GLikely benign
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 2180314	NM_173543.3(DZIP1L):c.1833-7G>A	DZIP1L	Single nucleotide variant (intron variant)	DZIP1L-related condition +1 more	GLikely benign
Select item 2155159	NM_173543.3(DZIP1L):c.1833-7G>C	DZIP1L	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2176458	NM_173543.3(DZIP1L):c.1833-8C>T	DZIP1L	Single nucleotide variant (intron variant)	DZIP1L-related condition +1 more	GLikely benign
Select item 1291531	NM_173543.3(DZIP1L):c.1833-69_1833-67del	DZIP1L	Microsatellite (intron variant)	not provided	GBenign
Select item 1276184	NM_173543.3(DZIP1L):c.1833-154C>T	DZIP1L	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 709403	NM_173543.3(DZIP1L):c.1832+8C>A	DZIP1L	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1541730	NM_173543.3(DZIP1L):c.1830G>A (p.Met610Ile)	DZIP1L (M610I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
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 2327349	NM_173543.3(DZIP1L):c.1825G>T (p.Gly609Trp)	DZIP1L (G609W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2067196	NM_173543.3(DZIP1L):c.1803C>T (p.Ser601=)	DZIP1L	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1602765	NM_173543.3(DZIP1L):c.1784G>A (p.Gly595Glu)	DZIP1L (G595E)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1176466	NM_173543.3(DZIP1L):c.1783G>A (p.Gly595Arg)	DZIP1L (G595R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2049116	NM_173543.3(DZIP1L):c.1782C>T (p.Pro594=)	DZIP1L	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1250792	NM_173543.3(DZIP1L):c.1778G>A (p.Arg593His)	DZIP1L (R593H)	Single nucleotide variant (missense variant)	Polycystic kidney disease 5 +1 more	GBenign
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 1233666	NM_173543.3(DZIP1L):c.1770C>T (p.Pro590=)	DZIP1L	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 711901	NM_173543.3(DZIP1L):c.1770C>A (p.Pro590=)	DZIP1L	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 2419224	NM_173543.3(DZIP1L):c.1765G>A (p.Ala589Thr)	DZIP1L (A589T)	Single nucleotide variant (missense variant)	not provided	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 2199852	NM_173543.3(DZIP1L):c.1739A>G (p.His580Arg)	DZIP1L (H580R)	Single nucleotide variant (missense variant)	DZIP1L-related condition +1 more	GBenign/Likely 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 1912861	NM_173543.3(DZIP1L):c.1720C>T (p.Arg574Cys)	DZIP1L (R574C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1421522	NM_173543.3(DZIP1L):c.1709C>A (p.Pro570His)	DZIP1L (P570H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1013231	NM_173543.3(DZIP1L):c.1698G>A (p.Pro566=)	DZIP1L	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2052839	NM_173543.3(DZIP1L):c.1681G>T (p.Ala561Ser)	DZIP1L (A561S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2189871	NM_173543.3(DZIP1L):c.1653C>G (p.Ala551=)	DZIP1L	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1233782	NM_173543.3(DZIP1L):c.1652C>T (p.Ala551Val)	DZIP1L (A551V)	Single nucleotide variant (missense variant)	not provided	GBenign
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 1255363	NM_173543.3(DZIP1L):c.1633A>G (p.Thr545Ala)	DZIP1L (T545A)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 2084229	NM_173543.3(DZIP1L):c.1616-3C>T	DZIP1L	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1991147	NM_173543.3(DZIP1L):c.1616-19T>C	DZIP1L	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1223270	NM_173543.3(DZIP1L):c.1616-73A>G	DZIP1L	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1294659	NM_173543.3(DZIP1L):c.1616-146A>G	DZIP1L	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1273403	NM_173543.3(DZIP1L):c.1615+199G>A	DZIP1L	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2905211	NM_173543.3(DZIP1L):c.1593C>G (p.Ser531=)	DZIP1L	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2324305	NM_173543.3(DZIP1L):c.1558G>A (p.Ala520Thr)	DZIP1L (A520T)	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 2189715	NM_173543.3(DZIP1L):c.1541A>G (p.Lys514Arg)	DZIP1L (K514R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2041938	NM_173543.3(DZIP1L):c.1537G>C (p.Val513Leu)	DZIP1L (V513L)	Single nucleotide variant (missense variant)	not provided	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 2061268	NM_173543.3(DZIP1L):c.1498C>T (p.Arg500Trp)	DZIP1L (R500W)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1533910	NM_173543.3(DZIP1L):c.1484G>A (p.Arg495Gln)	DZIP1L (R495Q)	Single nucleotide variant (missense variant)	DZIP1L-related condition +1 more	GBenign/Likely benign
Select item 3030429	NM_173543.3(DZIP1L):c.1483C>T (p.Arg495Trp)	DZIP1L (R495W)	Single nucleotide variant (missense variant)	DZIP1L-related condition	GUncertain significance

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