8609[HGNC] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 800

<< First< Prev

Page of 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155643	GRCh38/hg38 16p13.3-13.11(chr16:666662-15743104)x3	ABAT, ABCA3 +926 more	Copy number gain	See cases	GPathogenic
Select item 144327	GRCh38/hg38 16p13.3-11.2(chr16:4644892-29170820)x3	ABAT, ABCC1 +852 more	Copy number gain	See cases	GPathogenic
Select item 148522	GRCh38/hg38 16p13.13-13.11(chr16:11952467-15186199)x1	BFAR, CPPED1 +113 more	Copy number loss	See cases	GLikely pathogenic
Select item 58701	GRCh38/hg38 16p13.13-13.11(chr16:11967831-15162888)x1	BFAR, CPPED1 +110 more	Copy number loss	See cases	GPathogenic
Select item 148416	GRCh38/hg38 16p13.12(chr16:14140498-14686337)x3	BFAR, LINC02130 +27 more	Copy number gain	See cases	GLikely benign
Select item 1493396	NM_002582.4(PARN):c.1916G>A (p.Trp639Ter)	PARN (W578* +2 more)	Single nucleotide variant (nonsense)	Dyskeratosis congenita, autosomal recessive 6 +1 more	GUncertain significance
Select item 2931529	NM_002582.4(PARN):c.1915T>C (p.Trp639Arg)	PARN (W593R +2 more)	Single nucleotide variant (missense variant)	Dyskeratosis congenita, autosomal recessive 6 +1 more	GUncertain significance
Select item 1100340	NM_002582.4(PARN):c.1914A>G (p.Thr638=)	PARN	Single nucleotide variant (synonymous variant)	Dyskeratosis congenita, autosomal recessive 6 +1 more	GLikely benign
Select item 2930244	NM_002582.4(PARN):c.1911C>A (p.Asp637Glu)	PARN (D637E +2 more)	Single nucleotide variant (missense variant)	Dyskeratosis congenita, autosomal recessive 6 +1 more	GUncertain significance
Select item 2931340	NM_002582.4(PARN):c.1900G>A (p.Glu634Lys)	PARN (E588K +2 more)	Single nucleotide variant (missense variant)	Dyskeratosis congenita, autosomal recessive 6 +1 more	GUncertain significance
Select item 2951512	NM_002582.4(PARN):c.1895T>G (p.Leu632Arg)	PARN (L571R +2 more)	Single nucleotide variant (missense variant)	Dyskeratosis congenita, autosomal recessive 6 +1 more	GUncertain significance
Select item 2008666	NM_002582.4(PARN):c.1892C>G (p.Thr631Arg)	PARN (T585R +2 more)	Single nucleotide variant (missense variant)	Dyskeratosis congenita, autosomal recessive 6 +1 more	GUncertain significance
Select item 853379	NM_002582.4(PARN):c.1891A>G (p.Thr631Ala)	PARN (T570A +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1150412	NM_002582.4(PARN):c.1887T>C (p.Pro629=)	PARN	Single nucleotide variant (synonymous variant)	Dyskeratosis congenita, autosomal recessive 6 +1 more	GLikely benign
Select item 2177497	NM_002582.4(PARN):c.1881C>G (p.Asn627Lys)	PARN (N566K +2 more)	Single nucleotide variant (missense variant)	Dyskeratosis congenita, autosomal recessive 6 +1 more	GUncertain significance
Select item 1950989	NM_002582.4(PARN):c.1881C>A (p.Asn627Lys)	PARN (N581K +2 more)	Single nucleotide variant (missense variant)	Dyskeratosis congenita, autosomal recessive 6 +1 more	GUncertain significance
Select item 2181610	NM_002582.4(PARN):c.1875G>C (p.Ser625=)	PARN	Single nucleotide variant (synonymous variant)	Dyskeratosis congenita, autosomal recessive 6 +1 more	GLikely benign
Select item 1589772	NM_002582.4(PARN):c.1875G>A (p.Ser625=)	PARN	Single nucleotide variant (synonymous variant)	Dyskeratosis congenita, autosomal recessive 6 +1 more	GLikely benign
Select item 738489	NM_002582.4(PARN):c.1874C>T (p.Ser625Leu)	PARN (S625L +2 more)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 1444013	NM_002582.4(PARN):c.1870A>G (p.Ile624Val)	PARN (I624V +2 more)	Single nucleotide variant (missense variant)	Dyskeratosis congenita, autosomal recessive 6 +1 more	GUncertain significance
Select item 1406202	NM_002582.4(PARN):c.1865G>A (p.Gly622Glu)	PARN (G561E +2 more)	Single nucleotide variant (missense variant)	Dyskeratosis congenita, autosomal recessive 6 +1 more	GUncertain significance
Select item 2945073	NM_002582.4(PARN):c.1865-6C>G	PARN	Single nucleotide variant (intron variant)	Dyskeratosis congenita, autosomal recessive 6 +1 more	GLikely benign
Select item 2135211	NM_002582.4(PARN):c.1865-9del	PARN	Deletion (intron variant)	Dyskeratosis congenita, autosomal recessive 6 +1 more	GLikely benign
Select item 748191	NM_002582.4(PARN):c.1865-9T>C	PARN	Single nucleotide variant (intron variant)	Dyskeratosis congenita, autosomal recessive 6 +1 more	GLikely benign
Select item 1634941	NM_002582.4(PARN):c.1865-16T>C	PARN	Single nucleotide variant (intron variant)	Dyskeratosis congenita, autosomal recessive 6 +1 more	GLikely benign
Select item 1178066	NM_002582.4(PARN):c.1865-97C>T	PARN	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 2949378	NM_002582.4(PARN):c.1864+20G>C	PARN	Single nucleotide variant (intron variant)	Dyskeratosis congenita, autosomal recessive 6 +1 more	GLikely benign
Select item 2161678	NM_002582.4(PARN):c.1864+20G>A	PARN	Single nucleotide variant (intron variant)	Dyskeratosis congenita, autosomal recessive 6 +1 more	GLikely benign
Select item 2125607	NM_002582.4(PARN):c.1864+19C>G	PARN	Single nucleotide variant (intron variant)	Dyskeratosis congenita, autosomal recessive 6 +1 more	GLikely benign
Select item 1646750	NM_002582.4(PARN):c.1864+19C>T	PARN	Single nucleotide variant (intron variant)	Dyskeratosis congenita, autosomal recessive 6 +1 more	GLikely benign
Select item 2004139	NM_002582.4(PARN):c.1864+14C>T	PARN	Single nucleotide variant (intron variant)	Dyskeratosis congenita, autosomal recessive 6 +1 more	GLikely benign
Select item 1616965	NM_002582.4(PARN):c.1864+9T>C	PARN	Single nucleotide variant (intron variant)	Dyskeratosis congenita, autosomal recessive 6 +1 more	GLikely benign
Select item 2949379	NM_002582.4(PARN):c.1864+5G>T	PARN	Single nucleotide variant (intron variant)	Dyskeratosis congenita, autosomal recessive 6 +1 more	GUncertain significance
Select item 1895895	NM_002582.4(PARN):c.1858C>T (p.Pro620Ser)	PARN (P620S +2 more)	Single nucleotide variant (missense variant)	Dyskeratosis congenita, autosomal recessive 6 +1 more	GUncertain significance
Select item 1130545	NM_002582.4(PARN):c.1851G>A (p.Glu617=)	PARN	Single nucleotide variant (synonymous variant)	Dyskeratosis congenita, autosomal recessive 6 +1 more	GLikely benign
Select item 1057950	NM_002582.4(PARN):c.1850A>T (p.Glu617Val)	PARN (E556V +2 more)	Single nucleotide variant (missense variant)	Dyskeratosis congenita, autosomal recessive 6 +1 more	GUncertain significance
Select item 959433	NM_002582.4(PARN):c.1843AAG[3] (p.Lys616dup)	PARN	Microsatellite (inframe_insertion)	Dyskeratosis congenita, autosomal recessive 6 +1 more	GUncertain significance
Select item 542670	NM_002582.4(PARN):c.1843A>G (p.Lys615Glu)	PARN (K615E +2 more)	Single nucleotide variant (missense variant)	Dyskeratosis congenita, autosomal recessive 6 +2 more	GConflicting classifications of pathogenicity
Select item 650846	NM_002582.4(PARN):c.1842G>A (p.Met614Ile)	PARN (M553I +2 more)	Single nucleotide variant (missense variant)	Dyskeratosis congenita, autosomal recessive 6 +1 more	GUncertain significance
Select item 1011502	NM_002582.4(PARN):c.1841T>C (p.Met614Thr)	PARN (M553T +2 more)	Single nucleotide variant (missense variant)	Dyskeratosis congenita, autosomal recessive 6 +1 more	GUncertain significance
Select item 2944057	NM_002582.4(PARN):c.1840A>G (p.Met614Val)	PARN (M568V +2 more)	Single nucleotide variant (missense variant)	Dyskeratosis congenita, autosomal recessive 6 +1 more	GUncertain significance
Select item 2932760	NM_002582.4(PARN):c.1838G>A (p.Arg613Lys)	PARN (R552K +2 more)	Single nucleotide variant (missense variant)	Dyskeratosis congenita, autosomal recessive 6 +1 more	GUncertain significance
Select item 1051000	NM_002582.4(PARN):c.1835A>G (p.Lys612Arg)	PARN (K551R +2 more)	Single nucleotide variant (missense variant)	Dyskeratosis congenita, autosomal recessive 6 +1 more	GUncertain significance
Select item 1566547	NM_002582.4(PARN):c.1824C>A (p.Ala608=)	PARN	Single nucleotide variant (synonymous variant)	Dyskeratosis congenita, autosomal recessive 6 +1 more	GLikely benign
Select item 1585218	NM_002582.4(PARN):c.1818A>G (p.Lys606=)	PARN	Single nucleotide variant (synonymous variant)	Dyskeratosis congenita, autosomal recessive 6 +1 more	GLikely benign
Select item 2115748	NM_002582.4(PARN):c.1817A>G (p.Lys606Arg)	PARN (K545R +2 more)	Single nucleotide variant (missense variant)	Dyskeratosis congenita, autosomal recessive 6 +1 more	GUncertain significance
Select item 1597102	NM_002582.4(PARN):c.1806A>T (p.Ser602=)	PARN	Single nucleotide variant (synonymous variant)	Dyskeratosis congenita, autosomal recessive 6 +1 more	GLikely benign
Select item 1562409	NM_002582.4(PARN):c.1800C>G (p.Pro600=)	PARN	Single nucleotide variant (synonymous variant)	Dyskeratosis congenita, autosomal recessive 6 +1 more	GLikely benign
Select item 1471385	NM_002582.4(PARN):c.1796A>G (p.Glu599Gly)	PARN (E599G +2 more)	Single nucleotide variant (missense variant)	Dyskeratosis congenita, autosomal recessive 6 +1 more	GUncertain significance
Select item 1116261	NM_002582.4(PARN):c.1791T>C (p.Cys597=)	PARN	Single nucleotide variant (synonymous variant)	Dyskeratosis congenita, autosomal recessive 6 +1 more	GLikely benign
Select item 654763	NM_002582.4(PARN):c.1789T>C (p.Cys597Arg)	PARN (C597R +2 more)	Single nucleotide variant (missense variant)	Dyskeratosis congenita, autosomal recessive 6 +1 more	GUncertain significance
Select item 1914784	NM_002582.4(PARN):c.1787C>T (p.Ser596Phe)	PARN (S550F +2 more)	Single nucleotide variant (missense variant)	Dyskeratosis congenita, autosomal recessive 6 +1 more	GUncertain significance
Select item 581798	NM_002582.4(PARN):c.1785T>G (p.Asp595Glu)	PARN (D595E +2 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 2070094	NM_002582.4(PARN):c.1783G>A (p.Asp595Asn)	PARN (D534N +2 more)	Single nucleotide variant (missense variant)	Dyskeratosis congenita, autosomal recessive 6 +1 more	GUncertain significance
Select item 1425294	NM_002582.4(PARN):c.1783G>T (p.Asp595Tyr)	PARN (D534Y +2 more)	Single nucleotide variant (missense variant)	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4 +2 more	GUncertain significance
Select item 1557990	NM_002582.4(PARN):c.1782C>G (p.Thr594=)	PARN	Single nucleotide variant (synonymous variant)	Dyskeratosis congenita, autosomal recessive 6 +1 more	GLikely benign
Select item 789537	NM_002582.4(PARN):c.1782C>T (p.Thr594=)	PARN	Single nucleotide variant (synonymous variant)	Dyskeratosis congenita, autosomal recessive 6 +3 more	GLikely benign
Select item 1931905	NM_002582.4(PARN):c.1781C>A (p.Thr594Asn)	PARN (T548N +2 more)	Single nucleotide variant (missense variant)	Dyskeratosis congenita, autosomal recessive 6 +1 more	GUncertain significance
Select item 2932111	NM_002582.4(PARN):c.1779G>T (p.Gln593His)	PARN (Q593H +2 more)	Single nucleotide variant (missense variant)	Dyskeratosis congenita, autosomal recessive 6 +1 more	GUncertain significance
Select item 1987702	NM_002582.4(PARN):c.1773T>C (p.Leu591=)	PARN	Single nucleotide variant (synonymous variant)	Dyskeratosis congenita, autosomal recessive 6 +1 more	GLikely benign
Select item 1125910	NM_002582.4(PARN):c.1773T>G (p.Leu591=)	PARN	Single nucleotide variant (synonymous variant)	Dyskeratosis congenita, autosomal recessive 6 +1 more	GLikely benign
Select item 501664	NM_002582.4(PARN):c.1768G>C (p.Glu590Gln)	PARN (E590Q +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2942891	NM_002582.4(PARN):c.1764C>T (p.Asp588=)	PARN	Single nucleotide variant (synonymous variant)	Dyskeratosis congenita, autosomal recessive 6 +1 more	GLikely benign
Select item 2164059	NM_002582.4(PARN):c.1762G>A (p.Asp588Asn)	PARN (D542N +2 more)	Single nucleotide variant (missense variant)	Dyskeratosis congenita, autosomal recessive 6 +1 more	GUncertain significance
Select item 848576	NM_002582.4(PARN):c.1762G>T (p.Asp588Tyr)	PARN (D527Y +2 more)	Single nucleotide variant (missense variant)	Dyskeratosis congenita, autosomal recessive 6 +1 more	GUncertain significance
Select item 788348	NM_002582.4(PARN):c.1761C>T (p.Ser587=)	PARN	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 1337944	NM_002582.4(PARN):c.1754A>C (p.Glu585Ala)	PARN (E524A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1461745	NM_002582.4(PARN):c.1751G>A (p.Gly584Glu)	PARN (G538E +2 more)	Single nucleotide variant (missense variant)	Dyskeratosis congenita, autosomal recessive 6 +1 more	GUncertain significance
Select item 2929147	NM_002582.4(PARN):c.1750G>A (p.Gly584Arg)	PARN (G523R +2 more)	Single nucleotide variant (missense variant)	Dyskeratosis congenita, autosomal recessive 6 +1 more	GUncertain significance
Select item 977495	NM_002582.4(PARN):c.1749_1750del (p.Glu585fs)	PARN (E524fs +2 more)	Deletion (frameshift variant)	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4 +1 more	GPathogenic/Likely pathogenic
Select item 436148	NM_002582.4(PARN):c.1741G>A (p.Gly581Arg)	PARN (G581R +2 more)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign
Select item 2169604	NM_002582.4(PARN):c.1740C>T (p.Asp580=)	PARN	Single nucleotide variant (synonymous variant)	Dyskeratosis congenita, autosomal recessive 6 +1 more	GLikely benign
Select item 1053555	NM_002582.4(PARN):c.1733T>G (p.Leu578Arg)	PARN (L517R +2 more)	Single nucleotide variant (missense variant)	Dyskeratosis congenita, autosomal recessive 6 +2 more	GUncertain significance
Select item 2043567	NM_002582.4(PARN):c.1719A>G (p.Gln573=)	PARN	Single nucleotide variant (synonymous variant)	Dyskeratosis congenita, autosomal recessive 6 +1 more	GLikely benign
Select item 1431926	NM_002582.4(PARN):c.1715G>A (p.Ser572Asn)	PARN (S511N +2 more)	Single nucleotide variant (missense variant)	Dyskeratosis congenita, autosomal recessive 6 +1 more	GUncertain significance
Select item 2932833	NM_002582.4(PARN):c.1707G>T (p.Leu569Phe)	PARN (L523F +2 more)	Single nucleotide variant (missense variant)	Dyskeratosis congenita, autosomal recessive 6 +1 more	GUncertain significance
Select item 2008607	NM_002582.4(PARN):c.1702A>G (p.Asn568Asp)	PARN (N568D +2 more)	Single nucleotide variant (missense variant)	Dyskeratosis congenita, autosomal recessive 6 +1 more	GUncertain significance
Select item 2173970	NM_002582.4(PARN):c.1700G>A (p.Arg567Lys)	PARN (R521K +2 more)	Single nucleotide variant (missense variant)	Dyskeratosis congenita, autosomal recessive 6 +1 more	GUncertain significance
Select item 582194	NM_002582.4(PARN):c.1697A>G (p.Lys566Arg)	PARN (K566R +2 more)	Single nucleotide variant (missense variant)	Dyskeratosis congenita, autosomal recessive 6 +1 more	GUncertain significance
Select item 3208663	NM_002582.4(PARN):c.1696A>G (p.Lys566Glu)	PARN (K520E +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 730231	NM_002582.4(PARN):c.1692A>G (p.Val564=)	PARN	Single nucleotide variant (synonymous variant)	Dyskeratosis congenita, autosomal recessive 6 +1 more	GLikely benign
Select item 436155	NM_002582.4(PARN):c.1691T>C (p.Val564Ala)	PARN (V564A +2 more)	Single nucleotide variant (missense variant)	not specified +4 more	GUncertain significance
Select item 436149	NM_002582.4(PARN):c.1690G>A (p.Val564Ile)	PARN (V564I +2 more)	Single nucleotide variant (missense variant)	Dyskeratosis congenita, autosomal recessive 6 +3 more	GBenign
Select item 2179612	NM_002582.4(PARN):c.1684A>G (p.Ser562Gly)	PARN (S516G +2 more)	Single nucleotide variant (missense variant)	Dyskeratosis congenita, autosomal recessive 6 +1 more	GUncertain significance
Select item 1928074	NM_002582.4(PARN):c.1678G>A (p.Ala560Thr)	PARN (A499T +2 more)	Single nucleotide variant (missense variant)	Dyskeratosis congenita, autosomal recessive 6 +1 more	GUncertain significance
Select item 1659464	NM_002582.4(PARN):c.1674T>C (p.Phe558=)	PARN	Single nucleotide variant (synonymous variant)	Dyskeratosis congenita, autosomal recessive 6 +1 more	GLikely benign
Select item 2089307	NM_002582.4(PARN):c.1673T>G (p.Phe558Cys)	PARN (F497C +2 more)	Single nucleotide variant (missense variant)	Dyskeratosis congenita, autosomal recessive 6 +1 more	GUncertain significance
Select item 2945941	NM_002582.4(PARN):c.1671-1G>T	PARN	Single nucleotide variant (splice acceptor variant)	Dyskeratosis congenita, autosomal recessive 6 +1 more	GLikely pathogenic
Select item 2201648	NM_002582.4(PARN):c.1671-17C>T	PARN	Single nucleotide variant (intron variant)	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4 +1 more	GLikely benign
Select item 1976103	NM_002582.4(PARN):c.1671-18C>T	PARN	Single nucleotide variant (intron variant)	Dyskeratosis congenita, autosomal recessive 6 +1 more	GLikely benign
Select item 1194781	NM_002582.4(PARN):c.1670+246del	PARN	Deletion (intron variant)	not provided	GLikely benign
Select item 2027165	NM_002582.4(PARN):c.1670+20A>G	PARN	Single nucleotide variant (intron variant)	Dyskeratosis congenita, autosomal recessive 6 +1 more	GLikely benign
Select item 2928578	NM_002582.4(PARN):c.1670+17G>A	PARN	Single nucleotide variant (intron variant)	Dyskeratosis congenita, autosomal recessive 6 +1 more	GLikely benign
Select item 1169351	NM_002582.4(PARN):c.1670+17G>T	PARN	Single nucleotide variant (intron variant)	Dyskeratosis congenita, autosomal recessive 6 +1 more	GBenign
Select item 1576548	NM_002582.4(PARN):c.1670+13A>G	PARN	Single nucleotide variant (intron variant)	Dyskeratosis congenita, autosomal recessive 6 +1 more	GLikely benign
Select item 2939200	NM_002582.4(PARN):c.1670+12C>T	PARN	Single nucleotide variant (intron variant)	Dyskeratosis congenita, autosomal recessive 6 +1 more	GLikely benign
Select item 2948268	NM_002582.4(PARN):c.1670+5G>C	PARN	Single nucleotide variant (intron variant)	Dyskeratosis congenita, autosomal recessive 6 +1 more	GUncertain significance
Select item 945611	NM_002582.4(PARN):c.1670+1G>T	PARN	Single nucleotide variant (splice donor variant)	Dyskeratosis congenita, autosomal recessive 6 +1 more	GLikely pathogenic
Select item 2082249	NM_002582.4(PARN):c.1668T>C (p.Asn556=)	PARN	Single nucleotide variant (synonymous variant)	Dyskeratosis congenita, autosomal recessive 6 +1 more	GUncertain significance
Select item 2922601	NM_002582.4(PARN):c.1667A>G (p.Asn556Ser)	PARN (N556S +2 more)	Single nucleotide variant (missense variant)	Dyskeratosis congenita, autosomal recessive 6 +1 more	GUncertain significance

<< First< Prev

Page of 8