ClinVar for MedGen (Select 66315) - ClinVar

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

Links from MedGen

Items: 72

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3063820	NM_001844.5(COL2A1):c.292+2T>A	COL2A1	Single nucleotide variant (intron variant +1 more)	Achondrogenesis type II	GLikely pathogenic
Select item 2687876	NM_001844.5(COL2A1):c.3077G>A (p.Gly1026Asp)	COL2A1 (G1026D +1 more)	Single nucleotide variant (missense variant)	Achondrogenesis type II	GPathogenic
Select item 2664803	NM_001844.5(COL2A1):c.2293G>A (p.Gly765Ser)	COL2A1 (G696S +1 more)	Single nucleotide variant (missense variant)	Achondrogenesis type II	GLikely pathogenic
Select item 2579694	NM_001844.5(COL2A1):c.2401G>A (p.Gly801Ser)	COL2A1 (G732S +1 more)	Single nucleotide variant (missense variant)	Achondrogenesis type II	GLikely pathogenic
Select item 2506270	NM_001844.5(COL2A1):c.1267G>A (p.Gly423Ser)	COL2A1 (G354S +1 more)	Single nucleotide variant (missense variant)	Achondrogenesis type II +1 more	GLikely pathogenic
Select item 2446373	NM_001844.5(COL2A1):c.2302-1G>T	COL2A1	Single nucleotide variant (splice acceptor variant)	Achondrogenesis type II	GPathogenic
Select item 2443307	NM_001844.5(COL2A1):c.4345_4346del (p.Val1449fs)	COL2A1 (V1380fs +1 more)	Deletion (frameshift variant)	Achondrogenesis type II	GLikely pathogenic
Select item 2443306	NM_001844.5(COL2A1):c.3626G>A (p.Gly1209Asp)	COL2A1 (G1140D +1 more)	Single nucleotide variant (missense variant)	Achondrogenesis type II	GUncertain significance
Select item 1702988	NM_001844.5(COL2A1):c.1267-2_1269del	COL2A1	Deletion (splice acceptor variant)	Achondrogenesis type II	GPathogenic
Select item 1699230	NM_001844.5(COL2A1):c.2941G>A (p.Gly981Ser)	COL2A1 (G912S +1 more)	Single nucleotide variant (missense variant)	Achondrogenesis type II	GPathogenic
Select item 1693265	NM_001844.5(COL2A1):c.1952G>T (p.Gly651Val)	COL2A1 (G582V +1 more)	Single nucleotide variant (missense variant)	Achondrogenesis type II	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 1679879	NM_001844.5(COL2A1):c.2995G>T (p.Gly999Cys)	COL2A1 (G930C +1 more)	Single nucleotide variant (missense variant)	Achondrogenesis type II	GLikely pathogenic
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)	Spondyloepiphyseal dysplasia congenita +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)	Spondyloepiphyseal dysplasia, Stanescu type +16 more	GConflicting classifications of pathogenicity
Select item 1455692	NM_001844.5(COL2A1):c.2858del (p.Pro953fs)	COL2A1 (P884fs +1 more)	Deletion (frameshift variant)	Legg-Calve-Perthes disease +16 more	GPathogenic
Select item 1386179	NM_001844.5(COL2A1):c.1757G>A (p.Arg586His)	COL2A1 (R586H +1 more)	Single nucleotide variant (missense variant)	Legg-Calve-Perthes disease +16 more	GConflicting classifications of pathogenicity
Select item 1338757	NM_001844.5(COL2A1):c.2114G>A (p.Gly705Asp)	COL2A1 (G636D +1 more)	Single nucleotide variant (missense variant)	Achondrogenesis type II	GLikely pathogenic
Select item 1333725	NM_001844.5(COL2A1):c.1232G>A (p.Gly411Glu)	COL2A1 (G342E +1 more)	Single nucleotide variant (missense variant)	Achondrogenesis type II	GLikely pathogenic
Select item 1224342	NM_001844.5(COL2A1):c.3121G>A (p.Gly1041Ser)	COL2A1 (G1041S +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic
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)	Legg-Calve-Perthes disease +16 more	GLikely benign
Select item 1125241	NM_001844.5(COL2A1):c.4419C>T (p.Pro1473=)	COL2A1	Single nucleotide variant (synonymous variant)	Legg-Calve-Perthes disease +17 more	GLikely benign
Select item 1110328	NM_001844.5(COL2A1):c.2886C>T (p.Asp962=)	COL2A1	Single nucleotide variant (synonymous variant)	Multiple epiphyseal dysplasia, Beighton type +16 more	GLikely benign
Select item 1106196	NM_001844.5(COL2A1):c.4014C>T (p.Ser1338=)	COL2A1	Single nucleotide variant (synonymous variant)	not provided +16 more	GLikely benign
Select item 1067954	NM_001844.5(COL2A1):c.2910_2918del (p.Pro971_Pro973del)	COL2A1	Deletion (inframe_deletion)	not provided +1 more	GLikely pathogenic
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)	Legg-Calve-Perthes disease +17 more	GConflicting classifications of pathogenicity
Select item 1003699	NM_001844.5(COL2A1):c.3160G>A (p.Val1054Ile)	COL2A1 (V1054I +1 more)	Single nucleotide variant (missense variant)	Achondrogenesis type II +1 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 932069	NM_001844.5(COL2A1):c.2355+1G>A	COL2A1	Single nucleotide variant (splice donor variant)	Achondrogenesis type II +1 more	GPathogenic
Select item 931738	NM_001844.5(COL2A1):c.1941+18C>T	COL2A1	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 931126	NM_001844.5(COL2A1):c.2111dup (p.Gly705fs)	COL2A1 (G636fs +1 more)	Duplication (frameshift variant)	Achondrogenesis type II	GUncertain significance
Select item 930628	NM_001844.5(COL2A1):c.3575G>A (p.Arg1192Gln)	COL2A1 (R1192Q +1 more)	Single nucleotide variant (missense variant)	Achondrogenesis type II +1 more	GConflicting classifications of pathogenicity
Select item 930229	NM_001844.5(COL2A1):c.3690G>C (p.Glu1230Asp)	COL2A1 (E1161D +1 more)	Single nucleotide variant (missense variant)	Achondrogenesis type II	GUncertain significance
Select item 817344	NM_001844.5(COL2A1):c.491dup (p.Gly165fs)	COL2A1 (G165fs +1 more)	Duplication (frameshift variant)	Stickler syndrome type 1 +2 more	GPathogenic/Likely pathogenic
Select item 734396	NM_001844.5(COL2A1):c.312A>G (p.Gly104=)	COL2A1	Single nucleotide variant (synonymous variant)	not provided +16 more	GLikely benign
Select item 684434	NM_001844.5(COL2A1):c.734C>T (p.Pro245Leu)	COL2A1 (P176L +1 more)	Single nucleotide variant (missense variant)	Achondrogenesis type II	GLikely benign
Select item 633177	NM_001844.5(COL2A1):c.1520G>A (p.Gly507Glu)	COL2A1 (G507E +1 more)	Single nucleotide variant (missense variant)	Achondrogenesis type II	GLikely pathogenic
Select item 633176	NM_001844.5(COL2A1):c.1680+2T>G	COL2A1	Single nucleotide variant (splice donor variant)	Achondrogenesis type II	GLikely pathogenic
Select item 547841	NM_001844.5(COL2A1):c.2618G>T (p.Gly873Val)	COL2A1 (G873V +1 more)	Single nucleotide variant (missense variant)	Avascular necrosis of femoral head, primary, 1 +15 more	GUncertain significance
Select item 516324	NM_001844.5(COL2A1):c.4344T>C (p.Thr1448=)	COL2A1	Single nucleotide variant (synonymous variant)	Achondrogenesis type II +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 501233	NM_001844.5(COL2A1):c.3149G>A (p.Gly1050Asp)	COL2A1 (G1050D +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 488485	NM_001844.5(COL2A1):c.1979G>A (p.Gly660Glu)	COL2A1 (G660E +1 more)	Single nucleotide variant (missense variant)	Achondrogenesis type II	GPathogenic
Select item 451774	NM_001844.5(COL2A1):c.4135C>T (p.Arg1379Cys)	COL2A1 (R1379C +1 more)	Single nucleotide variant (missense variant)	Achondrogenesis type II +1 more	GConflicting classifications of pathogenicity
Select item 449001	NM_001844.5(COL2A1):c.905C>T (p.Ala302Val)	COL2A1 (A302V +1 more)	Single nucleotide variant (missense variant)	Achondrogenesis type II +18 more	GPathogenic/Likely pathogenic
Select item 439511	NM_001844.5(COL2A1):c.3139G>A (p.Gly1047Ser)	COL2A1 (G1047S +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GLikely pathogenic
Select item 438682	NM_001844.5(COL2A1):c.3062_3079del (p.Pro1021_Gly1026del)	COL2A1	Deletion (inframe_deletion)	not provided	GPathogenic
Select item 431967	NM_001844.5(COL2A1):c.2814del (p.Gly939fs)	COL2A1 (G939fs +1 more)	Deletion (frameshift variant)	Stickler syndrome type 1 +2 more	GPathogenic
Select item 374117	NM_001844.5(COL2A1):c.3472G>C (p.Gly1158Arg)	COL2A1 (G1158R +1 more)	Single nucleotide variant (missense variant)	Achondrogenesis type II +2 more	GLikely pathogenic
Select item 374042	NM_001844.5(COL2A1):c.3023G>T (p.Gly1008Val)	COL2A1 (G1008V +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic
Select item 308931	NM_001844.5(COL2A1):c.803C>T (p.Pro268Leu)	COL2A1 (P268L +1 more)	Single nucleotide variant (missense variant)	Achondrogenesis type II +16 more	GConflicting classifications of pathogenicity
Select item 308920	NM_001844.5(COL2A1):c.2095-4G>A	COL2A1	Single nucleotide variant (intron variant)	not provided +19 more	GBenign/Likely benign
Select item 290774	NM_001844.5(COL2A1):c.1636G>A (p.Gly546Ser)	COL2A1 (G546S +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 288221	NM_001844.5(COL2A1):c.2638G>A (p.Val880Met)	COL2A1 (V880M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 258220	NM_001844.5(COL2A1):c.1913C>T (p.Thr638Ile)	COL2A1 (T638I +1 more)	Single nucleotide variant (missense variant)	Connective tissue disorder +19 more	GBenign/Likely benign
Select item 258211	NM_001844.5(COL2A1):c.1545C>A (p.Arg515=)	COL2A1	Single nucleotide variant (synonymous variant)	Spondylometaphyseal dysplasia - Sutcliffe type +19 more	GBenign/Likely benign
Select item 258208	NM_001844.5(COL2A1):c.1266+7G>A	COL2A1	Single nucleotide variant (intron variant)	not specified +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)	Achondrogenesis type II +14 more	GPathogenic
Select item 166926	NM_001844.5(COL2A1):c.2334C>T (p.Ala778=)	COL2A1	Single nucleotide variant (synonymous variant)	COL2A1-related condition +20 more	GBenign/Likely benign
Select item 17403	NM_001844.5(COL2A1):c.1637G>T (p.Gly546Val)	COL2A1 (G477V +1 more)	Single nucleotide variant (missense variant)	Achondrogenesis type II	GPathogenic
Select item 17395	NM_001844.5(COL2A1):c.1957C>T (p.Arg653Ter)	COL2A1 (R584* +1 more)	Single nucleotide variant (nonsense)	Achondrogenesis type II +14 more	GPathogenic
Select item 17388	NM_001844.5(COL2A1):c.1547G>A (p.Gly516Asp)	COL2A1 (G447D +1 more)	Single nucleotide variant (missense variant)	Achondrogenesis type II	GPathogenic
Select item 17383	NM_001844.5(COL2A1):c.1693C>T (p.Arg565Cys)	COL2A1 (R496C +1 more)	Single nucleotide variant (missense variant)	Stickler syndrome, type I, nonsyndromic ocular +5 more	GPathogenic/Likely pathogenic
Select item 17372	NM_001844.5(COL2A1):c.2671G>C (p.Gly891Arg)	COL2A1 (G822R +1 more)	Single nucleotide variant (missense variant)	Achondrogenesis type II	GPathogenic
Select item 17371	NM_001844.5(COL2A1):c.2905G>A (p.Gly969Ser)	COL2A1 (G900S +1 more)	Single nucleotide variant (missense variant)	Achondrogenesis type II	GPathogenic
Select item 17368	NM_001844.5(COL2A1):c.823C>T (p.Arg275Cys)	COL2A1 (R206C +1 more)	Single nucleotide variant (missense variant)	Acetabular dysplasia +4 more	GPathogenic
Select item 17366	NM_001844.5(COL2A1):c.2965C>T (p.Arg989Cys)	COL2A1 (R920C +1 more)	Single nucleotide variant (missense variant)	Achondrogenesis type II +14 more	GPathogenic/Likely pathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from MedGen

Items: 72