ClinVar for MedGen (Select 75559) - ClinVar

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Items: 50

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2687874	NM_001844.5(COL2A1):c.1266+1G>T	COL2A1	Single nucleotide variant (splice donor variant)	Kniest dysplasia	GPathogenic
Select item 1723875	NM_001844.5(COL2A1):c.870+5_870+7delinsCCTTTGTGAGAAGGTTCATTC	COL2A1	Indel (intron variant)	Kniest dysplasia	GLikely pathogenic
Select item 1679885	NM_001844.5(COL2A1):c.3397C>T (p.Arg1133Cys)	COL2A1 (R1064C +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1676793	NM_001844.5(COL2A1):c.1573G>A (p.Gly525Ser)	COL2A1 (G456S +1 more)	Single nucleotide variant (missense variant)	Kniest dysplasia +5 more	GLikely pathogenic
Select item 1675238	NM_001844.5(COL2A1):c.3111+5G>A	COL2A1	Single nucleotide variant (intron variant)	Achondrogenesis type II +16 more	GUncertain significance
Select item 1619302	NM_001844.5(COL2A1):c.2734-18C>T	COL2A1	Single nucleotide variant (intron variant)	not provided +16 more	GLikely benign
Select item 1524681	NM_001844.5(COL2A1):c.2795G>A (p.Arg932Gln)	COL2A1 (R863Q +1 more)	Single nucleotide variant (missense variant)	not provided +16 more	GConflicting classifications of pathogenicity
Select item 1455692	NM_001844.5(COL2A1):c.2858del (p.Pro953fs)	COL2A1 (P884fs +1 more)	Deletion (frameshift variant)	not provided +16 more	GPathogenic
Select item 1386179	NM_001844.5(COL2A1):c.1757G>A (p.Arg586His)	COL2A1 (R586H +1 more)	Single nucleotide variant (missense variant)	not provided +16 more	GConflicting classifications of pathogenicity
Select item 1347701	NM_001844.5(COL2A1):c.1043G>A (p.Gly348Asp)	COL2A1 (G348D +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 1332845	NM_001844.5(COL2A1):c.1250G>T (p.Gly417Val)	COL2A1 (G348V +1 more)	Single nucleotide variant (missense variant)	Kniest dysplasia	GPathogenic
Select item 1332834	NM_001844.5(COL2A1):c.1680+2dup	COL2A1	Duplication (splice donor variant)	Kniest dysplasia +1 more	GPathogenic/Likely pathogenic
Select item 1326896	NM_001844.5(COL2A1):c.1266+5G>C	COL2A1	Single nucleotide variant (intron variant)	Kniest dysplasia	GLikely pathogenic
Select item 1326891	NM_001844.5(COL2A1):c.970-8T>G	COL2A1	Single nucleotide variant (intron variant)	Kniest dysplasia	GLikely pathogenic
Select item 1326890	NM_001844.5(COL2A1):c.1068+1G>C	COL2A1	Single nucleotide variant (splice donor variant)	Kniest dysplasia	GPathogenic
Select item 1326875	NM_001844.5(COL2A1):c.1421_1426del (p.Gly474_Pro475del)	COL2A1	Deletion (inframe_deletion)	Kniest dysplasia	GPathogenic
Select item 1320320	NM_001844.5(COL2A1):c.1937dup (p.Ala647fs)	COL2A1 (A578fs +1 more)	Duplication (frameshift variant)	Kniest dysplasia	GLikely pathogenic
Select item 1202957	NM_001844.5(COL2A1):c.1679G>C (p.Arg560Pro)	COL2A1 (R491P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1135907	NM_001844.5(COL2A1):c.4254C>T (p.Asp1418=)	COL2A1	Single nucleotide variant (synonymous variant)	Achondrogenesis type II +16 more	GLikely benign
Select item 1125241	NM_001844.5(COL2A1):c.4419C>T (p.Pro1473=)	COL2A1	Single nucleotide variant (synonymous variant)	Achondrogenesis type II +17 more	GLikely benign
Select item 1110328	NM_001844.5(COL2A1):c.2886C>T (p.Asp962=)	COL2A1	Single nucleotide variant (synonymous variant)	not provided +16 more	GLikely benign
Select item 1106196	NM_001844.5(COL2A1):c.4014C>T (p.Ser1338=)	COL2A1	Single nucleotide variant (synonymous variant)	Multiple epiphyseal dysplasia, Beighton type +16 more	GLikely benign
Select item 1048782	NM_001844.5(COL2A1):c.1023+1G>C	COL2A1	Single nucleotide variant (splice donor variant)	Kniest dysplasia	GPathogenic
Select item 1020209	NM_001844.5(COL2A1):c.3007G>A (p.Glu1003Lys)	COL2A1 (E1003K +1 more)	Single nucleotide variant (missense variant)	not provided +16 more	GUncertain significance
Select item 1003871	NM_001844.5(COL2A1):c.1057G>A (p.Ala353Thr)	COL2A1 (A284T +1 more)	Single nucleotide variant (missense variant)	Achondrogenesis type II +17 more	GConflicting classifications of pathogenicity
Select item 938269	NM_001844.5(COL2A1):c.1855G>A (p.Glu619Lys)	COL2A1 (E619K +1 more)	Single nucleotide variant (missense variant)	not provided +16 more	GConflicting classifications of pathogenicity
Select item 734396	NM_001844.5(COL2A1):c.312A>G (p.Gly104=)	COL2A1	Single nucleotide variant (synonymous variant)	Legg-Calve-Perthes disease +16 more	GLikely benign
Select item 623297	NM_001844.5(COL2A1):c.1122+1G>C	COL2A1	Single nucleotide variant (splice donor variant)	Kniest dysplasia	GLikely pathogenic
Select item 599098	NM_001844.5(COL2A1):c.1581+4_1581+7del	COL2A1	Deletion (splice donor variant)	Kniest dysplasia	GUncertain significance
Select item 547841	NM_001844.5(COL2A1):c.2618G>T (p.Gly873Val)	COL2A1 (G873V +1 more)	Single nucleotide variant (missense variant)	Achondrogenesis type II +15 more	GUncertain significance
Select item 516324	NM_001844.5(COL2A1):c.4344T>C (p.Thr1448=)	COL2A1	Single nucleotide variant (synonymous variant)	not specified +19 more	GBenign/Likely benign
Select item 516232	NM_001844.5(COL2A1):c.2160C>A (p.Gly720=)	COL2A1	Single nucleotide variant (synonymous variant)	not provided +18 more	GBenign/Likely benign
Select item 513411	NM_001844.5(COL2A1):c.870+11C>T	COL2A1	Single nucleotide variant (intron variant)	Achondrogenesis type II +17 more	GBenign/Likely benign
Select item 449001	NM_001844.5(COL2A1):c.905C>T (p.Ala302Val)	COL2A1 (A302V +1 more)	Single nucleotide variant (missense variant)	Spondyloepiphyseal dysplasia with metatarsal shortening +18 more	GPathogenic/Likely pathogenic
Select item 439508	NM_001844.5(COL2A1):c.1453G>A (p.Ala485Thr)	COL2A1 (A485T +1 more)	Single nucleotide variant (missense variant)	Kniest dysplasia +2 more	GConflicting classifications of pathogenicity
Select item 308931	NM_001844.5(COL2A1):c.803C>T (p.Pro268Leu)	COL2A1 (P268L +1 more)	Single nucleotide variant (missense variant)	Stickler syndrome type 1 +16 more	GConflicting classifications of pathogenicity
Select item 308920	NM_001844.5(COL2A1):c.2095-4G>A	COL2A1	Single nucleotide variant (intron variant)	not specified +19 more	GBenign/Likely benign
Select item 288221	NM_001844.5(COL2A1):c.2638G>A (p.Val880Met)	COL2A1 (V880M +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 258220	NM_001844.5(COL2A1):c.1913C>T (p.Thr638Ile)	COL2A1 (T638I +1 more)	Single nucleotide variant (missense variant)	not specified +19 more	GBenign/Likely benign
Select item 258211	NM_001844.5(COL2A1):c.1545C>A (p.Arg515=)	COL2A1	Single nucleotide variant (synonymous variant)	Stickler syndrome type 1 +19 more	GBenign/Likely benign
Select item 258208	NM_001844.5(COL2A1):c.1266+7G>A	COL2A1	Single nucleotide variant (intron variant)	Stickler syndrome type 1 +19 more	GBenign/Likely benign
Select item 195148	NM_001844.5(COL2A1):c.258C>A (p.Cys86Ter)	COL2A1 (C86*)	Single nucleotide variant (nonsense +1 more)	Spondyloepiphyseal dysplasia congenita +14 more	GPathogenic
Select item 166926	NM_001844.5(COL2A1):c.2334C>T (p.Ala778=)	COL2A1	Single nucleotide variant (synonymous variant)	Type II Collagenopathies +20 more	GBenign/Likely benign
Select item 17395	NM_001844.5(COL2A1):c.1957C>T (p.Arg653Ter)	COL2A1 (R584* +1 more)	Single nucleotide variant (nonsense)	Stickler syndrome type 1 +14 more	GPathogenic
Select item 17376	NM_001844.5(COL2A1):c.1581+5G>A	COL2A1	Single nucleotide variant (intron variant)	Kniest dysplasia	GPathogenic
Select item 17375	NM_001844.5(COL2A1):c.1266+1del	COL2A1	Deletion (splice donor variant)	Kniest dysplasia	GPathogenic
Select item 17370	NM_001844.5(COL2A1):c.908G>A (p.Gly303Asp)	COL2A1 (G234D +1 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 17369	NM_001844.5(COL2A1):c.1420-2A>G	COL2A1	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GPathogenic
Select item 17366	NM_001844.5(COL2A1):c.2965C>T (p.Arg989Cys)	COL2A1 (R920C +1 more)	Single nucleotide variant (missense variant)	Spondyloepiphyseal dysplasia, Stanescu type +14 more	GPathogenic/Likely pathogenic
Select item 17362	NM_001844.5(COL2A1):c.906_924+9del	COL2A1	Deletion (splice donor variant)	not provided	GPathogenic

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Items: 50