LOC126805814[gene] - ClinVar

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Items: 69

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146350	GRCh38/hg38 1p31.1-21.1(chr1:83457325-104273917)x3	LINC01708, LINC01709 +549 more	Copy number gain	See cases	GPathogenic
Select item 146007	GRCh38/hg38 1p21.3-13.3(chr1:97272349-108893138)x1	AGL, AKNAD1 +195 more	Copy number loss	See cases	GPathogenic
Select item 60005	GRCh38/hg38 1p21.3-13.3(chr1:97410602-110670510)x1	AGL, AHCYL1 +333 more	Copy number loss	See cases	GPathogenic
Select item 60007	GRCh38/hg38 1p21.2-13.2(chr1:101618097-111703028)x1	ELAPOR1, EPS8L3 +276 more	Copy number loss	See cases	GPathogenic
Select item 1263899	NM_001854.4(COL11A1):c.5274+261A>G	COL11A1, LOC126805814	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1229009	NM_001854.4(COL11A1):c.5274+97C>T	COL11A1, LOC126805814	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1571975	NM_001854.4(COL11A1):c.5274+16G>C	COL11A1, LOC126805814	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2798349	NM_001854.4(COL11A1):c.5274+11G>C	COL11A1, LOC126805814	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2180456	NM_001854.4(COL11A1):c.5274+7A>G	COL11A1, LOC126805814	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1065087	NM_001854.4(COL11A1):c.5274+4A>C	COL11A1, LOC126805814	Single nucleotide variant (intron variant)	not provided +1 more	GUncertain significance
Select item 1303460	NM_001854.4(COL11A1):c.5274G>A (p.Ala1758=)	COL11A1, LOC126805814	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 2547457	NM_001854.4(COL11A1):c.5273C>A (p.Ala1758Glu)	COL11A1, LOC126805814 (A1719E +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 284750	NM_001854.4(COL11A1):c.5273C>T (p.Ala1758Val)	COL11A1, LOC126805814 (A1770V +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 1398624	NM_001854.4(COL11A1):c.5261A>G (p.Tyr1754Cys)	COL11A1, LOC126805814 (Y1715C +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 3008394	NM_001854.4(COL11A1):c.5258T>C (p.Leu1753Pro)	COL11A1, LOC126805814 (L1765P +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 1470495	NM_001854.4(COL11A1):c.5258T>A (p.Leu1753Gln)	COL11A1, LOC126805814 (L1753Q +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2122988	NM_001854.4(COL11A1):c.5250C>T (p.Ile1750=)	COL11A1, LOC126805814	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1354394	NM_001854.4(COL11A1):c.5249T>C (p.Ile1750Thr)	LOC126805814, COL11A1 (I1634T +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2058956	NM_001854.4(COL11A1):c.5247T>C (p.Phe1749=)	COL11A1, LOC126805814	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1390406	NM_001854.4(COL11A1):c.5243C>A (p.Pro1748His)	COL11A1, LOC126805814 (P1748H +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1490963	NM_001854.4(COL11A1):c.5238T>G (p.Asn1746Lys)	COL11A1, LOC126805814 (N1746K +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2712579	NM_001854.4(COL11A1):c.5237A>G (p.Asn1746Ser)	COL11A1, LOC126805814 (N1630S +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2908430	NM_001854.4(COL11A1):c.5235C>G (p.Asp1745Glu)	COL11A1, LOC126805814 (D1745E +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1508766	NM_001854.4(COL11A1):c.5231A>G (p.Tyr1744Cys)	COL11A1, LOC126805814 (Y1744C +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 876587	NM_001854.4(COL11A1):c.5223G>C (p.Glu1741Asp)	COL11A1, LOC126805814 (E1702D +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2116226	NM_001854.4(COL11A1):c.5222A>C (p.Glu1741Ala)	COL11A1, LOC126805814 (E1702A +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2097578	NM_001854.4(COL11A1):c.5221G>A (p.Glu1741Lys)	COL11A1, LOC126805814 (E1625K +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 1524937	NM_001854.4(COL11A1):c.5220G>C (p.Glu1740Asp)	COL11A1, LOC126805814 (E1624D +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 844278	NM_001854.4(COL11A1):c.5218G>C (p.Glu1740Gln)	COL11A1, LOC126805814 (E1701Q +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 198360	NM_001854.4(COL11A1):c.5198G>A (p.Arg1733His)	COL11A1, LOC126805814 (R1745H +3 more)	Single nucleotide variant (missense variant +1 more)	Fibrochondrogenesis 1 +4 more	GConflicting classifications of pathogenicity
Select item 1404055	NM_001854.4(COL11A1):c.5197C>T (p.Arg1733Cys)	COL11A1, LOC126805814 (R1617C +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 1943268	NM_001854.4(COL11A1):c.5191G>T (p.Ala1731Ser)	COL11A1, LOC126805814 (A1743S +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1984524	NM_001854.4(COL11A1):c.5187C>T (p.Asp1729=)	COL11A1, LOC126805814	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2042234	NM_001854.4(COL11A1):c.5186A>G (p.Asp1729Gly)	COL11A1, LOC126805814 (D1613G +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1713986	NM_001854.4(COL11A1):c.5179A>C (p.Ser1727Arg)	COL11A1, LOC126805814 (S1611R +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1720209	NM_001854.4(COL11A1):c.5173T>A (p.Ser1725Thr)	COL11A1, LOC126805814 (S1609T +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 873740	NM_001854.4(COL11A1):c.5169G>A (p.Val1723=)	COL11A1, LOC126805814	Single nucleotide variant (synonymous variant +1 more)	Stickler syndrome type 2 +2 more	GConflicting classifications of pathogenicity
Select item 1519894	NM_001854.4(COL11A1):c.5168T>G (p.Val1723Gly)	COL11A1, LOC126805814 (V1684G +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1523567	NM_001854.4(COL11A1):c.5166T>A (p.Asp1722Glu)	COL11A1, LOC126805814 (D1683E +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1466079	NM_001854.4(COL11A1):c.5164G>A (p.Asp1722Asn)	COL11A1, LOC126805814 (D1722N +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2415667	NM_001854.4(COL11A1):c.5149T>A (p.Ser1717Thr)	COL11A1, LOC126805814 (S1601T +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1449987	NM_001854.4(COL11A1):c.5144A>T (p.His1715Leu)	COL11A1, LOC126805814 (H1715L +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 720991	NM_001854.4(COL11A1):c.5136C>T (p.Tyr1712=)	COL11A1, LOC126805814	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign/Likely benign
Select item 1001761	NM_001854.4(COL11A1):c.5132C>T (p.Thr1711Ile)	COL11A1, LOC126805814 (T1595I +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 2050601	NM_001854.4(COL11A1):c.5125A>G (p.Asn1709Asp)	COL11A1, LOC126805814 (N1593D +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1702542	NM_001854.4(COL11A1):c.5120G>A (p.Arg1707Gln)	COL11A1, LOC126805814 (R1591Q +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 2760191	NM_001854.4(COL11A1):c.5119C>A (p.Arg1707=)	COL11A1, LOC126805814	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 1369352	NM_001854.4(COL11A1):c.5119C>T (p.Arg1707Trp)	COL11A1, LOC126805814 (R1719W +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1468934	NM_001854.4(COL11A1):c.5116G>A (p.Ala1706Thr)	COL11A1, LOC126805814 (A1706T +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2972176	NM_001854.4(COL11A1):c.5104C>T (p.Leu1702=)	COL11A1, LOC126805814	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2962978	NM_001854.4(COL11A1):c.5101C>T (p.Leu1701Phe)	COL11A1, LOC126805814 (L1701F +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 1311019	NM_001854.4(COL11A1):c.5099A>C (p.Lys1700Thr)	COL11A1, LOC126805814 (K1584T +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1311737	NM_001854.4(COL11A1):c.5095C>G (p.Leu1699Val)	COL11A1, LOC126805814 (L1583V +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1442203	NM_001854.4(COL11A1):c.5094C>A (p.Phe1698Leu)	COL11A1, LOC126805814 (F1659L +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2090402	NM_001854.4(COL11A1):c.5080G>A (p.Val1694Met)	COL11A1, LOC126805814 (V1694M +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 501232	NM_001854.4(COL11A1):c.5070C>T (p.Ser1690=)	LOC126805814, COL11A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 1473405	NM_001854.4(COL11A1):c.5068T>C (p.Ser1690Pro)	COL11A1, LOC126805814 (S1574P +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2117194	NM_001854.4(COL11A1):c.5056G>A (p.Val1686Ile)	COL11A1, LOC126805814 (V1647I +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2851742	NM_001854.4(COL11A1):c.5055T>C (p.Asp1685=)	COL11A1, LOC126805814	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2701972	NM_001854.4(COL11A1):c.5053G>A (p.Asp1685Asn)	COL11A1, LOC126805814 (D1646N +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2696862	NM_001854.4(COL11A1):c.5048A>G (p.Tyr1683Cys)	COL11A1, LOC126805814 (Y1695C +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1570740	NM_001854.4(COL11A1):c.5046A>G (p.Ser1682=)	COL11A1, LOC126805814	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2850125	NM_001854.4(COL11A1):c.5042T>G (p.Leu1681Arg)	COL11A1, LOC126805814 (L1681R +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2664063	NM_001854.4(COL11A1):c.5041-2A>G	COL11A1, LOC126805814	Single nucleotide variant (splice acceptor variant)	Stickler syndrome type 2	GUncertain significance
Select item 2745739	NM_001854.4(COL11A1):c.5041-3T>C	COL11A1, LOC126805814	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 737368	NM_001854.4(COL11A1):c.5041-4C>T	COL11A1, LOC126805814	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1197874	NM_001854.4(COL11A1):c.5041-8A>G	COL11A1, LOC126805814	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1608370	NM_001854.4(COL11A1):c.5041-20T>C	COL11A1, LOC126805814	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 681209	NM_001854.4(COL11A1):c.5041-272G>C	COL11A1, LOC126805814	Single nucleotide variant (intron variant)	not provided	GBenign

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Items: 69