ClinVar for MedGen (Select 82694) - ClinVar

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Items: 88

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3366895	NM_001854.4(COL11A1):c.2143G>A (p.Gly715Arg)	COL11A1 (G599R +3 more)	Single nucleotide variant (missense variant +1 more)	Marshall syndrome	GPathogenic
Select item 3362378	NM_001854.4(COL11A1):c.3245C>T (p.Pro1082Leu)	COL11A1 (P1043L +3 more)	Single nucleotide variant (missense variant +1 more)	Marshall syndrome	GLikely pathogenic
Select item 3236626	NM_001854.4(COL11A1):c.1951C>T (p.Arg651Ter)	COL11A1 (R535* +3 more)	Single nucleotide variant (nonsense +1 more)	Marshall syndrome +1 more	GLikely pathogenic
Select item 3236191	NM_001854.4(COL11A1):c.298del (p.Ser100fs)	COL11A1 (S100fs)	Deletion (frameshift variant +1 more)	Marshall syndrome	GLikely pathogenic
Select item 3235930	NM_001854.4(COL11A1):c.3511G>C (p.Gly1171Arg)	COL11A1 (G1055R +3 more)	Single nucleotide variant (missense variant +1 more)	Marshall syndrome +1 more	GUncertain significance
Select item 2698527	NM_001854.4(COL11A1):c.2897G>T (p.Gly966Val)	COL11A1 (G927V +3 more)	Single nucleotide variant (missense variant +1 more)	Stickler syndrome type 2 +3 more	GUncertain significance
Select item 2572572	NM_001854.4(COL11A1):c.4591G>C (p.Gly1531Arg)	COL11A1 (G1415R +3 more)	Single nucleotide variant (missense variant +1 more)	Marshall syndrome	GUncertain significance
Select item 2442232	NM_001854.4(COL11A1):c.4859G>A (p.Gly1620Asp)	COL11A1 (G1504D +3 more)	Single nucleotide variant (missense variant +1 more)	Hearing loss, autosomal dominant 37 +2 more	GUncertain significance
Select item 1810297	NM_001854.4(COL11A1):c.5029A>G (p.Arg1677Gly)	COL11A1 (R1561G +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1679801	NM_001854.4(COL11A1):c.1351-1G>A	COL11A1	Single nucleotide variant (splice acceptor variant)	Hearing loss, autosomal dominant 37 +2 more	GUncertain significance
Select item 1627745	NM_001854.4(COL11A1):c.3792G>A (p.Gly1264=)	COL11A1	Single nucleotide variant (synonymous variant +1 more)	Intervertebral disc disorder +5 more	GLikely benign
Select item 1551961	NM_016580.4(PCDH12):c.1060G>A (p.Val354Ile)	PCDH12, RNF14 (V354I)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
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 1448483	NM_001854.4(COL11A1):c.2654C>T (p.Thr885Met)	COL11A1 (T897M +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 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)	Marshall syndrome +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)	not provided +6 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)	not provided +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)	not provided +5 more	GUncertain significance
Select item 1324096	NM_001854.4(COL11A1):c.1245+1G>A	COL11A1	Single nucleotide variant (splice donor variant +1 more)	not provided +5 more	GPathogenic/Likely pathogenic
Select item 1321292	NM_001854.4(COL11A1):c.2344_2352del (p.Glu782_Gly784del)	COL11A1	Deletion (inframe_deletion +1 more)	Marshall syndrome	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)	Inborn genetic diseases +1 more	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)	Marshall syndrome +5 more	GConflicting classifications of pathogenicity
Select item 1184316	NM_001854.4(COL11A1):c.2711G>T (p.Gly904Val)	COL11A1 (G788V +3 more)	Single nucleotide variant (missense variant +1 more)	Hearing loss, autosomal dominant 37 +2 more	GUncertain significance
Select item 1179083	NM_001854.4(COL11A1):c.4186G>T (p.Gly1396Cys)	COL11A1 (G1280C +3 more)	Single nucleotide variant (missense variant +1 more)	Intervertebral disc disorder +4 more	GLikely pathogenic
Select item 1175708	NM_001854.4(COL11A1):c.4519-2del	COL11A1	Deletion (splice acceptor variant)	Hearing loss, autosomal dominant 37 +2 more	GPathogenic
Select item 1174529	NC_000001.10:g.(103388956_103400026)_(104094395_?)del	COL11A1, RNPC3	Deletion	Stickler syndrome type 2 +2 more	GLikely pathogenic
Select item 1169323	NM_001854.4(COL11A1):c.4032+16A>G	COL11A1	Single nucleotide variant (intron variant)	Marshall syndrome +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)	Intervertebral disc disorder +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 1032776	NM_001854.4(COL11A1):c.3816+2dup	COL11A1	Duplication (splice donor variant)	Fibrochondrogenesis 1 +1 more	GPathogenic
Select item 998040	NM_001854.4(COL11A1):c.2508dup (p.Leu837fs)	COL11A1 (L721fs +3 more)	Duplication (frameshift variant +1 more)	Marshall syndrome	GLikely pathogenic
Select item 982851	NM_001854.4(COL11A1):c.2245C>T (p.Pro749Ser)	COL11A1 (P633S +3 more)	Single nucleotide variant (missense variant +1 more)	Marshall syndrome	GLikely benign
Select item 982704	NM_001854.4(COL11A1):c.4373T>C (p.Ile1458Thr)	COL11A1 (I1342T +3 more)	Single nucleotide variant (missense variant +1 more)	Marshall syndrome	GUncertain significance
Select item 976188	NM_001854.4(COL11A1):c.3816+1G>C	COL11A1	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic
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)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 932033	NM_001854.4(COL11A1):c.3817-10C>A	COL11A1	Single nucleotide variant (intron variant)	Marshall syndrome	GUncertain significance
Select item 931347	NM_001854.4(COL11A1):c.385G>A (p.Val129Ile)	COL11A1 (V129I)	Single nucleotide variant (missense variant +1 more)	Marshall syndrome	GUncertain significance
Select item 931238	NM_001854.4(COL11A1):c.2590A>C (p.Asn864His)	COL11A1 (N876H +3 more)	Single nucleotide variant (missense variant +1 more)	Marshall syndrome	GUncertain significance
Select item 931132	NM_001854.4(COL11A1):c.1999-10T>C	COL11A1	Single nucleotide variant (intron variant)	Marshall syndrome	GUncertain significance
Select item 930586	NM_001854.4(COL11A1):c.4031C>A (p.Pro1344Gln)	COL11A1 (P1344Q +3 more)	Single nucleotide variant (missense variant +1 more)	Marshall syndrome	GUncertain significance
Select item 930420	NM_080629.2(COL11A1):c.2796_2813delTCAAGGACCTCAGGGTCC	COL11A1	Deletion	Marshall syndrome +1 more	GPathogenic
Select item 929473	NM_001854.4(COL11A1):c.3115G>A (p.Gly1039Ser)	COL11A1 (G1000S +3 more)	Single nucleotide variant (missense variant +1 more)	Stickler syndrome type 2 +1 more	GLikely pathogenic
Select item 516177	NM_001854.4(COL11A1):c.3817-13dup	COL11A1	Duplication (intron variant)	not provided +5 more	GBenign
Select item 498797	NM_001854.4(COL11A1):c.4547G>T (p.Gly1516Val)	COL11A1 (G1516V +3 more)	Single nucleotide variant (missense variant +1 more)	Stickler syndrome type 2 +3 more	GPathogenic/Likely pathogenic
Select item 391809	NM_001854.4(COL11A1):c.3816+5G>A	COL11A1	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
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 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 291550	NM_001854.4(COL11A1):c.130G>A (p.Ala44Thr)	COL11A1 (A44T)	Single nucleotide variant (missense variant +1 more)	Fibrochondrogenesis 1 +7 more	GBenign/Likely benign
Select item 291545	NM_001854.4(COL11A1):c.652-7_652-6dup	COL11A1	Duplication (intron variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 291531	NM_001854.4(COL11A1):c.1792-39ATG[8]	COL11A1	Microsatellite (intron variant)	Fibrochondrogenesis 1 +3 more	GBenign
Select item 291530	NM_001854.4(COL11A1):c.1792-39ATG[12]	COL11A1	Microsatellite (intron variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 291512	NM_001854.4(COL11A1):c.3788C>T (p.Pro1263Leu)	COL11A1 (P1275L +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 291509	NM_001854.4(COL11A1):c.3817-13del	COL11A1	Deletion (intron variant)	not provided +3 more	GBenign
Select item 291508	NM_001854.4(COL11A1):c.3817-14_3817-13dup	COL11A1	Duplication (intron variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 291506	NM_001854.4(COL11A1):c.4140+13del	COL11A1	Deletion (intron variant)	not provided +3 more	GLikely benign
Select item 291505	NM_001854.4(COL11A1):c.4222G>A (p.Gly1408Ser)	COL11A1 (G1408S +3 more)	Single nucleotide variant (missense variant +1 more)	Stickler syndrome type 2 +6 more	GConflicting classifications of pathogenicity
Select item 291504	NM_001854.4(COL11A1):c.4303-13del	COL11A1	Deletion (intron variant)	Fibrochondrogenesis 1 +3 more	GBenign
Select item 291503	NM_001854.4(COL11A1):c.4303-13dup	COL11A1	Duplication (intron variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 291502	NM_001854.4(COL11A1):c.4357-16dup	COL11A1	Duplication (intron variant)	Fibrochondrogenesis 1 +3 more	GConflicting classifications of pathogenicity
Select item 291485	NM_001854.4(COL11A1):c.*628dup	COL11A1	Duplication (3 prime UTR variant +1 more)	Fibrochondrogenesis 1 +3 more	GUncertain significance
Select item 281428	NM_001854.4(COL11A1):c.2241+6T>C	COL11A1	Single nucleotide variant (intron variant)	not provided +5 more	GUncertain significance
Select item 258473	NM_001854.4(COL11A1):c.651+16A>G	COL11A1	Single nucleotide variant (intron variant)	Stickler syndrome type 2 +6 more	GBenign
Select item 258470	NM_001854.4(COL11A1):c.4770T>C (p.Ile1590=)	COL11A1	Single nucleotide variant (synonymous variant +1 more)	Hearing loss, autosomal dominant 37 +5 more	GBenign
Select item 258466	NM_001854.4(COL11A1):c.4512T>C (p.Gly1504=)	COL11A1	Single nucleotide variant (synonymous variant +1 more)	Hearing loss, autosomal dominant 37 +5 more	GBenign
Select item 258461	NM_001854.4(COL11A1):c.3968C>T (p.Pro1323Leu)	COL11A1 (P1323L +3 more)	Single nucleotide variant (missense variant +1 more)	Hearing loss, autosomal dominant 37 +5 more	GBenign
Select item 258458	NM_001854.4(COL11A1):c.3375C>T (p.Asp1125=)	COL11A1	Single nucleotide variant (synonymous variant +1 more)	Hearing loss, autosomal dominant 37 +5 more	GBenign
Select item 258456	NM_001854.4(COL11A1):c.3168+41T>C	COL11A1	Single nucleotide variant (intron variant)	Hearing loss, autosomal dominant 37 +5 more	GBenign
Select item 258454	NM_001854.4(COL11A1):c.3025-23A>T	COL11A1	Single nucleotide variant (intron variant)	Hearing loss, autosomal dominant 37 +5 more	GBenign
Select item 258452	NM_001854.4(COL11A1):c.275-7T>C	COL11A1	Single nucleotide variant (intron variant)	not provided +5 more	GBenign
Select item 258450	NM_001854.4(COL11A1):c.274+42G>C	COL11A1	Single nucleotide variant (intron variant)	not specified +5 more	GBenign
Select item 258449	NM_001854.4(COL11A1):c.2656-28T>C	COL11A1	Single nucleotide variant (intron variant)	Hearing loss, autosomal dominant 37 +5 more	GBenign
Select item 258446	NM_001854.4(COL11A1):c.2611-4C>T	COL11A1	Single nucleotide variant (intron variant)	Stickler syndrome type 2 +6 more	GBenign
Select item 258445	NM_001854.4(COL11A1):c.2611-19A>C	COL11A1	Single nucleotide variant (intron variant)	not specified +5 more	GBenign
Select item 258443	NM_001854.4(COL11A1):c.2295+37A>T	COL11A1	Single nucleotide variant (intron variant)	not provided +5 more	GBenign
Select item 258440	NM_001854.4(COL11A1):c.1998+4T>A	COL11A1	Single nucleotide variant (intron variant)	Hearing loss, autosomal dominant 37 +5 more	GBenign
Select item 218828	NM_001854.4(COL11A1):c.652-6del	COL11A1	Deletion (intron variant)	Connective tissue disorder +6 more	GBenign
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 197911	NM_001854.4(COL11A1):c.3811G>T (p.Val1271Leu)	COL11A1 (V1283L +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 197736	NM_001854.4(COL11A1):c.652-6dup	COL11A1	Duplication (intron variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 197735	NM_001854.4(COL11A1):c.652-7_652-6del	COL11A1	Deletion (intron variant)	not provided +5 more	GBenign
Select item 166924	NM_001854.4(COL11A1):c.1792-39ATG[11]	COL11A1	Microsatellite (intron variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 93966	NM_001854.4(COL11A1):c.1792-39ATG[9]	COL11A1	Microsatellite (intron variant)	not provided +5 more	GBenign/Likely benign
Select item 39776	NM_001854.4(COL11A1):c.3816+1G>A	COL11A1	Single nucleotide variant (splice donor variant)	Stickler syndrome type 2 +3 more	GPathogenic
Select item 17137	NM_001854.4(COL11A1):c.4603T>C (p.Ser1535Pro)	COL11A1 (S1535P +3 more)	Single nucleotide variant (missense variant +1 more)	not specified +6 more	GBenign
Select item 17134	NM_001854.4(COL11A1):c.3814_3816+1del	COL11A1	Deletion (splice donor variant)	Marshall syndrome	GPathogenic

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Items: 88