100151683[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153085	GRCh38/hg38 2q14.1-14.3(chr2:115302067-129071130)x1	AMMECR1L, BIN1 +254 more	Copy number loss	See cases	GPathogenic
Select item 60184	GRCh38/hg38 2q14.1-21.3(chr2:118086324-134964738)x1	ACMSD, AMER3 +391 more	Copy number loss	See cases	GPathogenic
Select item 155658	GRCh38/hg38 2q14.2-14.3(chr2:118687829-121621814)x1	C1QL2, C2orf76 +92 more	Copy number loss	See cases	GPathogenic
Select item 1202360	NC_000002.12:g.121530617C>A	CLASP1, RNU4ATAC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1183560	NC_000002.12:g.121530637C>T	CLASP1, RNU4ATAC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1192748	NC_000002.12:g.121530681T>C	CLASP1, RNU4ATAC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1236574	NC_000002.12:g.121530831C>G	CLASP1, RNU4ATAC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1242503	NC_000002.12:g.121530839T>C	CLASP1, RNU4ATAC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1274763	NM_001395891.1(CLASP1):c.196-544G>A	CLASP1, RNU4ATAC	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 3033988	NM_001395891.1(CLASP1):c.196-554A>G	CLASP1, RNU4ATAC	Single nucleotide variant (intron variant)	CLASP1-related disorder	GLikely benign
Select item 1917117	NC_000002.12:g.121530880A>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 1350450	NC_000002.12:g.121530881A>G	CLASP1, RNU4ATAC	Single nucleotide variant (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 1483074	NC_000002.12:g.121530882C>T	CLASP1, RNU4ATAC	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1471101	NC_000002.12:g.121530883C>T	CLASP1, RNU4ATAC	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1978446	NC_000002.12:g.121530884A>T	CLASP1, RNU4ATAC	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1045423	NC_000002.12:g.121530884A>G	CLASP1, RNU4ATAC	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 932367	NR_023343.3(RNU4ATAC):n.5A>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 873520	NR_023343.3(RNU4ATAC):n.6T>C	CLASP1, RNU4ATAC	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1366874	NC_000002.12:g.121530886C>T	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 692040	NM_001395891.1(CLASP1):c.196-562G>T	CLASP1, RNU4ATAC	Single nucleotide variant (intron variant)	Lowry-Wood syndrome	GLikely pathogenic
Select item 218086	NR_023343.3(RNU4ATAC):n.8C>T	CLASP1, RNU4ATAC	Single nucleotide variant (intron variant)	not specified +8 more	GConflicting classifications of pathogenicity
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 1913571	NC_000002.12:g.121530890T>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 1472329	NR_023343.3(RNU4ATAC):n.13_15delCTT	CLASP1, RNU4ATAC	Deletion (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 1506268	NC_000002.12:g.121530891T>A	CLASP1, RNU4ATAC	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1479614	NC_000002.12:g.121530891T>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 218083	NM_001395891.1(CLASP1):c.196-567G>A	CLASP1, RNU4ATAC	Single nucleotide variant (intron variant)	not provided +3 more	GPathogenic
Select item 1471153	NC_000002.12:g.121530893T>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 1463667	NC_000002.12:g.121530894T>C	CLASP1, RNU4ATAC	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1382974	NC_000002.12:g.121530894T>G	CLASP1, RNU4ATAC	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1469262	NC_000002.12:g.121530895G>C	CLASP1, RNU4ATAC	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 218082	NM_001395891.1(CLASP1):c.196-570C>T	CLASP1, RNU4ATAC	Single nucleotide variant (intron variant)	Roifman syndrome +5 more	GPathogenic/Likely pathogenic
Select item 1403727	NM_001395891.1(CLASP1):c.196-571C>T	CLASP1, RNU4ATAC	Single nucleotide variant (intron variant)	Roifman syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1377310	NC_000002.12:g.121530896G>C	CLASP1, RNU4ATAC	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 932368	NR_023343.3(RNU4ATAC):n.18G>A	CLASP1, RNU4ATAC	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1507850	NC_000002.12:g.121530898G>A	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 1518381	NC_000002.12:g.121530900T>G	CLASP1, RNU4ATAC	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1363263	NC_000002.12:g.121530900T>C	CLASP1, RNU4ATAC	Single nucleotide variant (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 1422665	NC_000002.12:g.121530901G>A	CLASP1, RNU4ATAC	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1133987	NM_001395891.1(CLASP1):c.196-577G>A	CLASP1, RNU4ATAC	Single nucleotide variant (intron variant)	CLASP1-related disorder +1 more	GLikely benign
Select item 1504902	NC_000002.12:g.121530903G>C	CLASP1, RNU4ATAC	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1062165	NC_000002.12:g.121530903G>A	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 1472138	NC_000002.12:g.121530904C>G	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 1383498	NC_000002.12:g.121530905T>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 2795914	NC_000002.12:g.121530907C>G	CLASP1, RNU4ATAC	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1470268	NC_000002.12:g.121530907C>T	CLASP1, RNU4ATAC	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2151941	NC_000002.12:g.121530908T>C	CLASP1, RNU4ATAC	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 977869	NR_023343.3(RNU4ATAC):n.29T>G	CLASP1, RNU4ATAC	Single nucleotide variant (intron variant)	Osteodysplastic primordial dwarfism, type 1	GLikely pathogenic
Select item 1488137	NC_000002.12:g.121530909G>C	CLASP1, RNU4ATAC	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 30180	NR_023343.1:n.30G>A	CLASP1, RNU4ATAC	Single nucleotide variant (intron variant)	Osteodysplastic primordial dwarfism, type 1 +1 more	GLikely pathogenic
Select item 1470235	NC_000002.12:g.121530910T>C	CLASP1, RNU4ATAC	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1479222	NC_000002.12:g.121530911C>G	CLASP1, RNU4ATAC	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1407996	NC_000002.12:g.121530911C>T	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 1924725	NR_023343.3(RNU4ATAC):n.34A>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 1351945	NC_000002.12:g.121530914A>G	CLASP1, RNU4ATAC	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1943391	NC_000002.12:g.121530915T>C	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 218084	NR_023343.3(RNU4ATAC):n.37G>A	CLASP1, RNU4ATAC	Single nucleotide variant (intron variant)	Roifman syndrome +5 more	GPathogenic/Likely pathogenic
Select item 1476748	NC_000002.12:g.121530918G>A	CLASP1, RNU4ATAC	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1368259	NC_000002.12:g.121530918G>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 599282	NR_023343.3(RNU4ATAC):n.40C>T	CLASP1, RNU4ATAC	Single nucleotide variant (intron variant)	not provided	GPathogenic
Select item 1629605	NC_000002.12:g.121530920G>A	CLASP1, RNU4ATAC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1422517	NC_000002.12:g.121530921C>G	RNU4ATAC, CLASP1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1160662	NM_001395891.1(CLASP1):c.196-596G>A	CLASP1, RNU4ATAC	Single nucleotide variant (intron variant)	CLASP1-related disorder +2 more	GLikely benign
Select item 1633266	NC_000002.12:g.121530922A>G	CLASP1, RNU4ATAC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1501793	NC_000002.12:g.121530922A>C	CLASP1, RNU4ATAC	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1485205	NC_000002.12:g.121530922A>T	CLASP1, RNU4ATAC	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1472544	NC_000002.12:g.121530923T>C	CLASP1, RNU4ATAC	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1632468	NC_000002.12:g.121530924A>C	CLASP1, RNU4ATAC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1424898	NC_000002.12:g.121530924A>G	CLASP1, RNU4ATAC	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1381605	NC_000002.12:g.121530925G>C	CLASP1, RNU4ATAC	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 977856	NR_023343.3(RNU4ATAC):n.46G>T	CLASP1, RNU4ATAC	Single nucleotide variant (intron variant)	Osteodysplastic primordial dwarfism, type 1	GLikely pathogenic
Select item 636959	NR_023343.3(RNU4ATAC):n.46G>A	CLASP1, RNU4ATAC	Single nucleotide variant (intron variant)	not provided	GPathogenic
Select item 1476470	NC_000002.12:g.121530926T>C	CLASP1, RNU4ATAC	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1474999	NR_023343.3(RNU4ATAC):n.47T>G	CLASP1, RNU4ATAC	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 218085	NR_023343.3(RNU4ATAC):n.48G>A	CLASP1, RNU4ATAC	Single nucleotide variant (intron variant)	Roifman syndrome +4 more	GPathogenic/Likely pathogenic
Select item 30184	NR_023343.3(RNU4ATAC):n.50G>A	CLASP1, RNU4ATAC	Single nucleotide variant (intron variant)	Roifman syndrome +1 more	GConflicting classifications of pathogenicity
Select item 30182	NC_000002.12:g.121530929G>C	CLASP1, RNU4ATAC	Single nucleotide variant (intron variant)	not provided	GLikely pathogenic
Select item 30178	NR_023343.3(RNU4ATAC):n.51G>A	CLASP1, RNU4ATAC	Single nucleotide variant (intron variant)	RNU4ATAC-related disorder +4 more	GPathogenic/Likely pathogenic
Select item 1485152	NC_000002.12:g.121530931G>T	CLASP1, RNU4ATAC	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1040331	NM_001395891.1(CLASP1):c.196-606C>T	RNU4ATAC, CLASP1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 692041	NM_001395891.1(CLASP1):c.196-607G>A	CLASP1, RNU4ATAC	Single nucleotide variant (intron variant)	Lowry-Wood syndrome +1 more	GConflicting classifications of pathogenicity
Select item 30183	NC_000002.12:g.121530932C>G	CLASP1, RNU4ATAC	Single nucleotide variant (intron variant)	not provided	GLikely pathogenic

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