Related gene-specific medical variations for Gene (Select 23332) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3145276	NM_001395891.1(CLASP1):c.1990C>T (p.Arg664Cys)	CLASP1, LOC126806337 (R664C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145275	NM_001395891.1(CLASP1):c.1955A>G (p.Asn652Ser)	CLASP1, LOC126806337 (N652S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145274	NM_001395891.1(CLASP1):c.1931G>A (p.Arg644Gln)	CLASP1, LOC126806337 (R660Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3022545	NC_000002.12:g.121531004A>T	CLASP1, RNU4ATAC	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3020809	NC_000002.12:g.121530955C>G	CLASP1, RNU4ATAC	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2979089	NC_000002.12:g.121531001T>G	CLASP1, RNU4ATAC	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2975937	NC_000002.12:g.121530964A>C	CLASP1, RNU4ATAC	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2813456	NC_000002.12:g.121531003G>T	CLASP1, RNU4ATAC	Single nucleotide variant (intron variant)	not provided	GPathogenic
Select item 2795914	NC_000002.12:g.121530907C>G	CLASP1, RNU4ATAC	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2674599	NM_001395891.1(CLASP1):c.196-589T>G	CLASP1, RNU4ATAC	Single nucleotide variant (intron variant)	Osteodysplastic primordial dwarfism, type 1	GLikely pathogenic
Select item 2151941	NC_000002.12:g.121530908T>C	CLASP1, RNU4ATAC	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2151940	NC_000002.12:g.121530892C>G	CLASP1, RNU4ATAC	Single nucleotide variant (intron variant)	not provided	GConflicting classifications of pathogenicity
Select item 2121844	NC_000002.12:g.121530954_121530955insT	CLASP1, RNU4ATAC	Insertion (intron variant)	not provided	GUncertain significance
Select item 2114564	NC_000002.12:g.121530936A>C	CLASP1, RNU4ATAC	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2112464	NR_023343.3(RNU4ATAC):n.99_105delTTGCTTT	CLASP1, RNU4ATAC	Deletion (intron variant)	not provided	GUncertain significance
Select item 2101431	NC_000002.12:g.121530989T>C	CLASP1, RNU4ATAC	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2098732	NC_000002.12:g.121530942A>T	CLASP1, RNU4ATAC	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2092560	NC_000002.12:g.121530998T>A	CLASP1, RNU4ATAC	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2087135	NC_000002.12:g.121531009_121531013dup	CLASP1, RNU4ATAC	Duplication (intron variant)	not provided	GUncertain significance
Select item 2086571	NC_000002.12:g.121531006A>C	CLASP1, RNU4ATAC	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2024741	NR_023343.3(RNU4ATAC):n.109_115dup	CLASP1, RNU4ATAC	Duplication (intron variant)	not provided	GUncertain significance
Select item 2013493	NC_000002.12:g.121531009del	CLASP1, RNU4ATAC	Deletion (intron variant)	not provided	GUncertain significance
Select item 2008408	NC_000002.12:g.121530948T>C	CLASP1, RNU4ATAC	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1990820	NC_000002.12:g.121531009T>C	CLASP1, RNU4ATAC	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1989614	NC_000002.12:g.121530980G>A	CLASP1, RNU4ATAC	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1989181	NM_001395891.1(CLASP1):c.196-587G>A	CLASP1, RNU4ATAC	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1978446	NC_000002.12:g.121530884A>T	CLASP1, RNU4ATAC	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1975828	NC_000002.12:g.121530961C>A	CLASP1, RNU4ATAC	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1971292	NC_000002.12:g.121530966C>G	CLASP1, RNU4ATAC	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1962629	NR_023343.3(RNU4ATAC):n.111_119dup	CLASP1, RNU4ATAC	Duplication (intron variant)	not provided	GUncertain significance
Select item 1961939	NR_023343.3(RNU4ATAC):n.124dup	RNU4ATAC, CLASP1	Duplication (intron variant)	not provided	GUncertain significance
Select item 1960903	NC_000002.12:g.121530967A>C	CLASP1, RNU4ATAC	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1954361	NC_000002.12:g.121530900T>A	CLASP1, RNU4ATAC	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1944546	NM_001395891.1(CLASP1):c.196-562G>C	CLASP1, RNU4ATAC	Single nucleotide variant (intron variant)	Roifman syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1943391	NC_000002.12:g.121530915T>C	CLASP1, RNU4ATAC	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1941406	NC_000002.12:g.121530938T>C	CLASP1, RNU4ATAC	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1931799	NC_000002.12:g.121530975_121530976insA	CLASP1, RNU4ATAC	Insertion (intron variant)	not provided	GUncertain significance
Select item 1930826	NC_000002.12:g.121530975C>A	CLASP1, RNU4ATAC	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1924725	NR_023343.3(RNU4ATAC):n.34A>G	CLASP1, RNU4ATAC	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1922841	NC_000002.12:g.121530951A>C	CLASP1, RNU4ATAC	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1917117	NC_000002.12:g.121530880A>G	CLASP1, RNU4ATAC	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1916491	NC_000002.12:g.121530889T>C	CLASP1, RNU4ATAC	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1915970	NC_000002.12:g.121530890_121530891insA	CLASP1, RNU4ATAC	Insertion (intron variant)	not provided	GUncertain significance
Select item 1915864	NC_000002.12:g.121530882C>G	CLASP1, RNU4ATAC	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1915852	NC_000002.12:g.121530968A>C	CLASP1, RNU4ATAC	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1914210	NC_000002.12:g.121530906A>G	CLASP1, RNU4ATAC	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1913571	NC_000002.12:g.121530890T>C	CLASP1, RNU4ATAC	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1912324	NC_000002.12:g.121530919C>G	CLASP1, RNU4ATAC	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1912299	NC_000002.12:g.121531005A>G	CLASP1, RNU4ATAC	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1911008	NC_000002.12:g.121530891T>G	CLASP1, RNU4ATAC	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1907795	NC_000002.12:g.121530983T>G	CLASP1, RNU4ATAC	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1906799	NC_000002.12:g.121530972G>T	CLASP1, RNU4ATAC	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1900200	NC_000002.12:g.121530985A>T	CLASP1, RNU4ATAC	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1803779	NM_001395891.1(CLASP1):c.[196-571C>T];[196-670T>G]			Roifman syndrome	GLikely pathogenic
Select item 1633266	NC_000002.12:g.121530922A>G	CLASP1, RNU4ATAC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1632468	NC_000002.12:g.121530924A>C	CLASP1, RNU4ATAC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1631270	NC_000002.12:g.121530944C>T	CLASP1, RNU4ATAC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1629605	NC_000002.12:g.121530920G>A	CLASP1, RNU4ATAC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1628512	NC_000002.12:g.121530988T>A	CLASP1, RNU4ATAC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1601357	NM_001395891.1(CLASP1):c.196-647C>T	CLASP1, RNU4ATAC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1535896	NM_001395891.1(CLASP1):c.196-661del	CLASP1, RNU4ATAC	Deletion (intron variant)	not provided	GBenign
Select item 1525441	NC_000002.12:g.121530996A>G	CLASP1, RNU4ATAC	Single nucleotide variant (intron variant)	not provided	GPathogenic
Select item 1522685	NC_000002.12:g.121531008A>C	CLASP1, RNU4ATAC	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1522572	NC_000002.12:g.121530943A>C	CLASP1, RNU4ATAC	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1522251	NR_023343.3(RNU4ATAC):n.27dup	CLASP1, RNU4ATAC	Duplication (intron variant)	not provided	GUncertain significance
Select item 1520545	NC_000002.12:g.121530963C>T	CLASP1, RNU4ATAC	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1519630	NC_000002.12:g.121530988T>G	CLASP1, RNU4ATAC	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1518381	NC_000002.12:g.121530900T>G	CLASP1, RNU4ATAC	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1516356	NC_000002.12:g.121530915T>G	CLASP1, RNU4ATAC	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1516340	NR_023343.3(RNU4ATAC):n.122dup	CLASP1, RNU4ATAC	Duplication (intron variant)	not provided	GUncertain significance
Select item 1515972	NM_001395891.1(CLASP1):c.196-624C>T	CLASP1, RNU4ATAC	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1515511	NC_000002.12:g.121530975C>G	CLASP1, RNU4ATAC	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1515314	NR_023343.3(RNU4ATAC):n.122delT	CLASP1, RNU4ATAC	Deletion (intron variant)	not provided	GUncertain significance
Select item 1512557	NC_000002.12:g.121530941T>C	CLASP1, RNU4ATAC	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1512007	NC_000002.12:g.121530904C>T	CLASP1, RNU4ATAC	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1511701	NC_000002.12:g.121530959C>T	CLASP1, RNU4ATAC	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1508423	NC_000002.12:g.121531009T>G	CLASP1, RNU4ATAC	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1508358	NC_000002.12:g.121530881A>C	CLASP1, RNU4ATAC	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1508332	NC_000002.12:g.121530951A>G	CLASP1, RNU4ATAC	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1507850	NC_000002.12:g.121530898G>A	CLASP1, RNU4ATAC	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1507350	NC_000002.12:g.121530958A>C	CLASP1, RNU4ATAC	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1506418	NC_000002.12:g.121530890T>G	CLASP1, RNU4ATAC	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1506268	NC_000002.12:g.121530891T>A	CLASP1, RNU4ATAC	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1504902	NC_000002.12:g.121530903G>C	CLASP1, RNU4ATAC	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1504010	NR_023343.3(RNU4ATAC):n.19dup	CLASP1, RNU4ATAC	Duplication (intron variant)	not provided	GUncertain significance
Select item 1503496	NC_000002.12:g.121530946C>T	CLASP1, RNU4ATAC	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1502690	NC_000002.12:g.121530972G>C	CLASP1, RNU4ATAC	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1502412	NC_000002.12:g.121530981C>T	CLASP1, RNU4ATAC	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1501793	NC_000002.12:g.121530922A>C	CLASP1, RNU4ATAC	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1498575	NC_000002.12:g.121530885_121530886delinsAT	CLASP1, RNU4ATAC	Indel (intron variant)	not provided	GUncertain significance
Select item 1496505	NC_000002.12:g.121530901G>C	CLASP1, RNU4ATAC	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1496496	NC_000002.12:g.121530993G>A	CLASP1, RNU4ATAC	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1495436	NC_000002.12:g.121530966C>A	CLASP1, RNU4ATAC	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1493472	NC_000002.12:g.121530940C>T	CLASP1, RNU4ATAC	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1493436	NC_000002.12:g.121530952C>G	CLASP1, RNU4ATAC	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1493204	NC_000002.12:g.121531007A>G	CLASP1, RNU4ATAC	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1490995	NC_000002.12:g.121530993G>T	CLASP1, RNU4ATAC	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1488819	NC_000002.12:g.121530971A>T	CLASP1, RNU4ATAC	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1488137	NC_000002.12:g.121530909G>C	CLASP1, RNU4ATAC	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1485968	NC_000002.12:g.121530943A>G	CLASP1, RNU4ATAC	Single nucleotide variant (intron variant)	not provided	GUncertain significance

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