ClinVar for MedGen (Select 479768) - ClinVar - NCBI

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

Links from MedGen

Items: 1 to 100 of 216

<< First< Prev

Page of 3

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1810297	NM_001854.4(COL11A1):c.5029A>G (p.Arg1677Gly)	COL11A1 (R1561G +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1627745	NM_001854.4(COL11A1):c.3792G>A (p.Gly1264=)	COL11A1	Single nucleotide variant (synonymous variant +1 more)	not provided +6 more	GLikely benign
Select item 1477869	NM_001854.4(COL11A1):c.3375C>G (p.Asp1125Glu)	COL11A1 (D1086E +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +5 more	GUncertain significance
Select item 1418086	NM_001854.4(COL11A1):c.4709T>C (p.Leu1570Pro)	COL11A1 (L1531P +3 more)	Single nucleotide variant (missense variant +1 more)	COL11A1-related condition +6 more	GConflicting classifications of pathogenicity
Select item 1380051	NM_001854.4(COL11A1):c.4175C>T (p.Thr1392Ile)	COL11A1 (T1353I +3 more)	Single nucleotide variant (missense variant +1 more)	Intervertebral disc disorder +5 more	GUncertain significance
Select item 1357917	NM_001854.4(COL11A1):c.2285G>A (p.Arg762Gln)	COL11A1 (R762Q +3 more)	Single nucleotide variant (missense variant +1 more)	Fibrochondrogenesis 1 +5 more	GConflicting classifications of pathogenicity
Select item 1356260	NM_001854.4(COL11A1):c.549GAA[1] (p.Lys185del)	COL11A1 (K185del)	Microsatellite (inframe_deletion +1 more)	Intervertebral disc disorder +5 more	GUncertain significance
Select item 1324096	NM_001854.4(COL11A1):c.1245+1G>A	COL11A1	Single nucleotide variant (splice donor variant +1 more)	Fibrochondrogenesis 1 +5 more	GPathogenic/Likely pathogenic
Select item 1321275	NM_001854.4(COL11A1):c.3442C>G (p.Pro1148Ala)	COL11A1 (P1032A +3 more)	Single nucleotide variant (missense variant +1 more)	Fibrochondrogenesis 1	GUncertain significance
Select item 1314615	NM_001854.4(COL11A1):c.565C>T (p.Pro189Ser)	COL11A1 (P189S)	Single nucleotide variant (missense variant +1 more)	not provided +5 more	GUncertain significance
Select item 1300948	NM_001854.4(COL11A1):c.2644C>T (p.Arg882Cys)	COL11A1 (R766C +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 1216773	NM_001854.4(COL11A1):c.2513G>A (p.Gly838Glu)	COL11A1 (G722E +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GPathogenic/Likely pathogenic
Select item 1206960	NM_001854.4(COL11A1):c.3068C>A (p.Ala1023Glu)	COL11A1 (A1023E +3 more)	Single nucleotide variant (missense variant +1 more)	COL11A1-related condition +6 more	GConflicting classifications of pathogenicity
Select item 1179083	NM_001854.4(COL11A1):c.4186G>T (p.Gly1396Cys)	COL11A1 (G1280C +3 more)	Single nucleotide variant (missense variant +1 more)	Stickler syndrome type 2 +4 more	GLikely pathogenic
Select item 1169323	NM_001854.4(COL11A1):c.4032+16A>G	COL11A1	Single nucleotide variant (intron variant)	not provided +5 more	GBenign/Likely benign
Select item 1047474	NM_001854.4(COL11A1):c.5386G>A (p.Gly1796Arg)	COL11A1 (G1757R +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +5 more	GUncertain significance
Select item 1038628	NM_001854.4(COL11A1):c.3692G>T (p.Gly1231Val)	COL11A1 (G1243V +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 1032777	NM_001854.4(COL11A1):c.898-185T>C	COL11A1	Single nucleotide variant (intron variant +1 more)	COL11A1-related condition +2 more	GConflicting classifications of pathogenicity
Select item 1032776	NM_001854.4(COL11A1):c.3816+2dup	COL11A1	Duplication (splice donor variant)	not provided +1 more	GPathogenic
Select item 1029386	NM_001854.4(COL11A1):c.5288A>G (p.Tyr1763Cys)	COL11A1 (Y1724C +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 973212	NM_001854.4(COL11A1):c.1168G>T (p.Glu390Ter)	COL11A1 (E351* +2 more)	Single nucleotide variant (nonsense +2 more)	Stickler syndrome type 2 +2 more	GLikely pathogenic
Select item 973080	NM_001854.4(COL11A1):c.281C>T (p.Thr94Ile)	COL11A1 (T94I)	Single nucleotide variant (missense variant +1 more)	COL11A1-related condition +1 more	GConflicting classifications of pathogenicity
Select item 876983	NM_001854.4(COL11A1):c.-115C>T	COL11A1	Single nucleotide variant (5 prime UTR variant +1 more)	Fibrochondrogenesis 1 +1 more	GUncertain significance
Select item 876927	NM_001854.4(COL11A1):c.478G>A (p.Ala160Thr)	COL11A1 (A160T)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 876781	NM_001854.4(COL11A1):c.2735C>T (p.Pro912Leu)	COL11A1 (P873L +3 more)	Single nucleotide variant (missense variant +1 more)	Fibrochondrogenesis 1 +2 more	GConflicting classifications of pathogenicity
Select item 876730	NM_001854.4(COL11A1):c.3384+13T>G	COL11A1	Single nucleotide variant (intron variant)	Fibrochondrogenesis 1 +2 more	GConflicting classifications of pathogenicity
Select item 876729	NM_001854.4(COL11A1):c.3424G>A (p.Asp1142Asn)	COL11A1 (D1026N +3 more)	Single nucleotide variant (missense variant +1 more)	Stickler syndrome type 2 +1 more	GUncertain significance
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 876586	NM_001854.4(COL11A1):c.5275-15T>C	COL11A1	Single nucleotide variant (intron variant)	Fibrochondrogenesis 1 +1 more	GUncertain significance
Select item 876585	NM_001854.4(COL11A1):c.5275-9A>C	COL11A1	Single nucleotide variant (intron variant)	Fibrochondrogenesis 1 +1 more	GUncertain significance
Select item 876500	NM_001854.4(COL11A1):c.*1301T>C	COL11A1	Single nucleotide variant (3 prime UTR variant +1 more)	Fibrochondrogenesis 1 +1 more	GUncertain significance
Select item 876499	NM_001854.4(COL11A1):c.*1322G>A	COL11A1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 876498	NM_001854.4(COL11A1):c.*1535A>C	COL11A1	Single nucleotide variant (3 prime UTR variant +1 more)	Fibrochondrogenesis 1 +1 more	GUncertain significance
Select item 875940	NM_001854.4(COL11A1):c.511G>A (p.Val171Met)	COL11A1 (V171M)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 875938	NM_001854.4(COL11A1):c.652-13T>G	COL11A1	Single nucleotide variant (intron variant)	COL11A1-related condition +3 more	GConflicting classifications of pathogenicity
Select item 875887	NM_001854.4(COL11A1):c.1263A>G (p.Ala421=)	COL11A1	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 875886	NM_001854.4(COL11A1):c.1341A>G (p.Ala447=)	COL11A1	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 875591	NM_001854.4(COL11A1):c.5402C>T (p.Pro1801Leu)	COL11A1 (P1801L +3 more)	Single nucleotide variant (missense variant +1 more)	Fibrochondrogenesis 1 +1 more	GUncertain significance
Select item 875590	NM_001854.4(COL11A1):c.*40C>A	COL11A1	Single nucleotide variant (3 prime UTR variant +1 more)	Fibrochondrogenesis 1 +1 more	GUncertain significance
Select item 875530	NM_001854.4(COL11A1):c.*876G>A	COL11A1	Single nucleotide variant (3 prime UTR variant +1 more)	Stickler syndrome type 2 +1 more	GUncertain significance
Select item 875529	NM_001854.4(COL11A1):c.*901T>C	COL11A1	Single nucleotide variant (3 prime UTR variant +1 more)	Stickler syndrome type 2 +1 more	GUncertain significance
Select item 875067	NM_001854.4(COL11A1):c.174G>A (p.Thr58=)	COL11A1	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 874960	NM_001854.4(COL11A1):c.1351-3T>A	COL11A1	Single nucleotide variant (intron variant)	not provided +2 more	GUncertain significance
Select item 874959	NM_001854.4(COL11A1):c.1408G>C (p.Asp470His)	COL11A1 (D354H +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 874900	NM_001854.4(COL11A1):c.2044G>A (p.Gly682Ser)	COL11A1 (G682S +3 more)	Single nucleotide variant (missense variant +1 more)	Fibrochondrogenesis 1 +1 more	GUncertain significance
Select item 874753	NM_001854.4(COL11A1):c.4230G>A (p.Arg1410=)	COL11A1	Single nucleotide variant (synonymous variant +1 more)	Fibrochondrogenesis 1 +1 more	GUncertain significance
Select item 874648	NM_001854.4(COL11A1):c.*184A>G	COL11A1	Single nucleotide variant (3 prime UTR variant +1 more)	Fibrochondrogenesis 1 +1 more	GUncertain significance
Select item 874607	NM_001854.4(COL11A1):c.*1082G>A	COL11A1	Single nucleotide variant (3 prime UTR variant +1 more)	Fibrochondrogenesis 1 +1 more	GUncertain significance
Select item 874195	NM_001854.4(COL11A1):c.-248G>A	COL11A1	Single nucleotide variant (5 prime UTR variant +1 more)	Fibrochondrogenesis 1 +1 more	GUncertain significance
Select item 874194	NM_001854.4(COL11A1):c.-222G>T	COL11A1	Single nucleotide variant (5 prime UTR variant +1 more)	Fibrochondrogenesis 1 +1 more	GUncertain significance
Select item 874080	NM_001854.4(COL11A1):c.871A>G (p.Thr291Ala)	COL11A1 (T291A)	Single nucleotide variant (missense variant +2 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 874022	NM_001854.4(COL11A1):c.1817C>T (p.Pro606Leu)	COL11A1 (P490L +3 more)	Single nucleotide variant (missense variant +1 more)	Fibrochondrogenesis 1 +2 more	GConflicting classifications of pathogenicity
Select item 874021	NM_001854.4(COL11A1):c.1845+11T>G	COL11A1	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 873962	NM_001854.4(COL11A1):c.2394+8T>C	COL11A1	Single nucleotide variant (intron variant)	Fibrochondrogenesis 1 +2 more	GConflicting classifications of pathogenicity
Select item 873961	NM_001854.4(COL11A1):c.2449G>A (p.Gly817Ser)	COL11A1 (G817S +3 more)	Single nucleotide variant (missense variant +1 more)	Fibrochondrogenesis 1 +1 more	GUncertain significance
Select item 873960	NM_001854.4(COL11A1):c.2453G>A (p.Arg818Gln)	COL11A1 (R818Q +3 more)	Single nucleotide variant (missense variant +1 more)	Fibrochondrogenesis 1 +2 more	GConflicting classifications of pathogenicity
Select item 873959	NM_001854.4(COL11A1):c.2506A>G (p.Lys836Glu)	COL11A1 (K836E +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 873901	NM_001854.4(COL11A1):c.3343C>T (p.Pro1115Ser)	COL11A1 (P1076S +3 more)	Single nucleotide variant (missense variant +1 more)	Fibrochondrogenesis 1 +1 more	GUncertain significance
Select item 873741	NM_001854.4(COL11A1):c.5009G>A (p.Ser1670Asn)	COL11A1 (S1670N +3 more)	Single nucleotide variant (missense variant +1 more)	Fibrochondrogenesis 1 +1 more	GUncertain significance
Select item 873740	NM_001854.4(COL11A1):c.5169G>A (p.Val1723=)	COL11A1, LOC126805814	Single nucleotide variant (synonymous variant +1 more)	Fibrochondrogenesis 1 +2 more	GConflicting classifications of pathogenicity
Select item 873664	NM_001854.4(COL11A1):c.*426A>G	COL11A1	Single nucleotide variant (3 prime UTR variant +1 more)	Fibrochondrogenesis 1 +1 more	GUncertain significance
Select item 873663	NM_001854.4(COL11A1):c.*486T>C	COL11A1	Single nucleotide variant (3 prime UTR variant +1 more)	Fibrochondrogenesis 1 +1 more	GUncertain significance
Select item 873662	NM_001854.4(COL11A1):c.*535A>C	COL11A1	Single nucleotide variant (3 prime UTR variant +1 more)	Fibrochondrogenesis 1 +1 more	GUncertain significance
Select item 873606	NM_001854.4(COL11A1):c.*1230G>A	COL11A1	Single nucleotide variant (3 prime UTR variant +1 more)	Fibrochondrogenesis 1 +1 more	GUncertain significance
Select item 804698	NM_001854.4(COL11A1):c.3923C>T (p.Pro1308Leu)	COL11A1 (P1269L +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 801531	NM_001854.4(COL11A1):c.3168+2_3168+12del	COL11A1	Deletion (splice donor variant)	Fibrochondrogenesis 1	GPathogenic
Select item 801530	NM_001854.4(COL11A1):c.3978+1G>A	COL11A1	Single nucleotide variant (splice donor variant)	Stickler syndrome type 2 +1 more	GConflicting classifications of pathogenicity
Select item 735693	NM_001854.4(COL11A1):c.924A>G (p.Glu308=)	COL11A1	Single nucleotide variant (synonymous variant +2 more)	Stickler syndrome type 2 +2 more	GConflicting classifications of pathogenicity
Select item 735068	NM_001854.4(COL11A1):c.560C>T (p.Thr187Met)	COL11A1 (T187M)	Single nucleotide variant (missense variant +1 more)	Fibrochondrogenesis 1 +2 more	GConflicting classifications of pathogenicity
Select item 731001	NM_001854.4(COL11A1):c.456C>T (p.Pro152=)	COL11A1	Single nucleotide variant (synonymous variant +1 more)	Stickler syndrome type 2 +3 more	GConflicting classifications of pathogenicity
Select item 728988	NM_001854.4(COL11A1):c.489-4T>A	COL11A1	Single nucleotide variant (intron variant)	Fibrochondrogenesis 1 +2 more	GConflicting classifications of pathogenicity
Select item 681382	NM_001854.4(COL11A1):c.1926A>G (p.Arg642=)	COL11A1	Single nucleotide variant (synonymous variant +1 more)	COL11A1-related condition +3 more	GConflicting classifications of pathogenicity
Select item 672677	NM_001854.4(COL11A1):c.3873A>C (p.Gly1291=)	COL11A1	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 523071	NM_001854.4(COL11A1):c.3568T>C (p.Phe1190Leu)	COL11A1 (F1202L +3 more)	Single nucleotide variant (missense variant +1 more)	Fibrochondrogenesis 1 +1 more	GConflicting classifications of pathogenicity
Select item 516177	NM_001854.4(COL11A1):c.3817-13dup	COL11A1	Duplication (intron variant)	Hearing loss, autosomal dominant 37 +5 more	GBenign
Select item 514876	NM_001854.4(COL11A1):c.4087-4A>G	COL11A1	Single nucleotide variant (intron variant)	Fibrochondrogenesis 1 +3 more	GConflicting classifications of pathogenicity
Select item 514187	NM_001854.4(COL11A1):c.5325T>C (p.Ile1775=)	COL11A1	Single nucleotide variant (synonymous variant +1 more)	Fibrochondrogenesis 1 +2 more	GBenign/Likely benign
Select item 506378	NM_001854.4(COL11A1):c.3024+13T>C	COL11A1	Single nucleotide variant (intron variant)	not provided +3 more	GBenign/Likely benign
Select item 393244	NM_001854.4(COL11A1):c.4718C>T (p.Ser1573Leu)	COL11A1 (S1573L +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 392007	NM_001854.4(COL11A1):c.4802C>A (p.Thr1601Asn)	COL11A1 (T1601N +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 380458	NM_001854.4(COL11A1):c.3925-11C>T	COL11A1	Single nucleotide variant (intron variant)	Stickler syndrome type 2 +2 more	GBenign/Likely benign
Select item 369540	NM_080680.2(COL11A2):c.-241G>A	COL11A2	Single nucleotide variant (genic upstream transcript variant)	Nonsyndromic Hearing Loss, Dominant +4 more	GLikely benign
Select item 356382	NM_080680.3(COL11A2):c.4872C>T (p.Tyr1624=)	COL11A2	Single nucleotide variant (synonymous variant)	Nonsyndromic Hearing Loss, Dominant +6 more	GLikely benign
Select item 291561	NM_001854.4(COL11A1):c.-258C>A	COL11A1	Single nucleotide variant (5 prime UTR variant +1 more)	Fibrochondrogenesis 1 +1 more	GUncertain significance
Select item 291560	NM_001854.4(COL11A1):c.-231dup	COL11A1	Duplication (5 prime UTR variant +1 more)	Stickler Syndrome, Dominant +2 more	GUncertain significance
Select item 291559	NM_001854.4(COL11A1):c.-220T>C	COL11A1	Single nucleotide variant (5 prime UTR variant +1 more)	Stickler syndrome type 2 +1 more	GUncertain significance
Select item 291558	NM_001854.4(COL11A1):c.-198_-195del	COL11A1	Deletion (5 prime UTR variant +1 more)	Stickler Syndrome, Dominant +2 more	GUncertain significance
Select item 291557	NM_001854.4(COL11A1):c.-188G>A	COL11A1	Single nucleotide variant (5 prime UTR variant +1 more)	Fibrochondrogenesis 1 +1 more	GLikely benign
Select item 291556	NM_001854.4(COL11A1):c.-78T>A	COL11A1	Single nucleotide variant (5 prime UTR variant +1 more)	Fibrochondrogenesis 1 +2 more	GBenign/Likely benign
Select item 291555	NM_001854.4(COL11A1):c.-75C>T	COL11A1	Single nucleotide variant (5 prime UTR variant +1 more)	Fibrochondrogenesis 1 +1 more	GUncertain significance
Select item 291554	NM_001854.4(COL11A1):c.-50A>G	COL11A1	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 291553	NM_001854.4(COL11A1):c.35G>C (p.Arg12Pro)	COL11A1 (R12P)	Single nucleotide variant (missense variant +1 more)	Fibrochondrogenesis 1 +2 more	GUncertain significance
Select item 291551	NM_001854.4(COL11A1):c.107-12C>T	COL11A1	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 291550	NM_001854.4(COL11A1):c.130G>A (p.Ala44Thr)	COL11A1 (A44T)	Single nucleotide variant (missense variant +1 more)	Stickler syndrome type 2 +7 more	GBenign/Likely benign
Select item 291549	NM_001854.4(COL11A1):c.318A>G (p.Lys106=)	COL11A1	Single nucleotide variant (synonymous variant +1 more)	COL11A1-related condition +3 more	GConflicting classifications of pathogenicity
Select item 291548	NM_001854.4(COL11A1):c.328G>C (p.Gly110Arg)	COL11A1 (G110R)	Single nucleotide variant (missense variant +1 more)	Connective tissue disorder +4 more	GConflicting classifications of pathogenicity
Select item 291547	NM_001854.4(COL11A1):c.489-7T>G	COL11A1	Single nucleotide variant (intron variant)	Fibrochondrogenesis 1 +2 more	GConflicting classifications of pathogenicity
Select item 291546	NM_001854.4(COL11A1):c.628A>G (p.Ile210Val)	COL11A1 (I210V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 291545	NM_001854.4(COL11A1):c.652-7_652-6dup	COL11A1	Duplication (intron variant)	Marshall syndrome +3 more	GConflicting classifications of pathogenicity
Select item 291544	NM_001854.4(COL11A1):c.698A>G (p.Tyr233Cys)	COL11A1 (Y233C)	Single nucleotide variant (missense variant +1 more)	Stickler syndrome type 2 +3 more	GConflicting classifications of pathogenicity

<< First< Prev

Page of 3