ClinVar for MedGen (Select 440688) - ClinVar

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Items: 65

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2671732	NM_003611.3(OFD1):c.882T>A (p.Asp294Glu)	OFD1 (D154E +1 more)	Single nucleotide variant (missense variant)	Joubert syndrome 10	GUncertain significance
Select item 2584778	NM_003611.3(OFD1):c.1972A>T (p.Lys658Ter)	OFD1 (K518* +2 more)	Single nucleotide variant (nonsense)	Joubert syndrome 10	GLikely pathogenic
Select item 1960078	NM_003611.3(OFD1):c.2336G>A (p.Arg779Lys)	OFD1 (R639K +2 more)	Single nucleotide variant (missense variant)	Joubert syndrome 10 +4 more	GUncertain significance
Select item 1653522	NM_003611.3(OFD1):c.2992G>A (p.Glu998Lys)	OFD1 (E858K +2 more)	Single nucleotide variant (missense variant)	Familial aplasia of the vermis +4 more	GBenign/Likely benign
Select item 1601293	NM_003611.3(OFD1):c.795G>A (p.Lys265=)	OFD1	Single nucleotide variant (synonymous variant)	Retinal dystrophy +5 more	GBenign/Likely benign
Select item 1554549	NM_003611.3(OFD1):c.1271A>G (p.Asn424Ser)	OFD1 (N284S +2 more)	Single nucleotide variant (missense variant)	Familial aplasia of the vermis +4 more	GBenign/Likely benign
Select item 1531154	NM_003611.3(OFD1):c.2928+18A>G	OFD1	Single nucleotide variant (intron variant)	Familial aplasia of the vermis +4 more	GLikely benign
Select item 1486282	NM_003611.3(OFD1):c.74A>G (p.Gln25Arg)	LOC126863212, OFD1 (Q25R)	Single nucleotide variant (missense variant +1 more)	Familial aplasia of the vermis +4 more	GUncertain significance
Select item 1417509	NM_003611.3(OFD1):c.1490A>C (p.His497Pro)	OFD1 (H497P +2 more)	Single nucleotide variant (missense variant)	Orofaciodigital syndrome I +5 more	GUncertain significance
Select item 1397896	NM_003611.3(OFD1):c.1478T>C (p.Ile493Thr)	OFD1 (I493T +2 more)	Single nucleotide variant (missense variant)	Joubert syndrome 10 +4 more	GUncertain significance
Select item 1387002	NM_003611.3(OFD1):c.967A>G (p.Ser323Gly)	OFD1 (S183G +1 more)	Single nucleotide variant (missense variant +1 more)	Familial aplasia of the vermis +4 more	GUncertain significance
Select item 1379374	NM_003611.3(OFD1):c.1025A>G (p.Tyr342Cys)	OFD1 (Y202C +1 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 10 +4 more	GUncertain significance
Select item 1331351	NM_003611.3(OFD1):c.2484dup (p.Glu829Ter)	OFD1 (E689* +2 more)	Duplication (nonsense)	Joubert syndrome 10	GLikely pathogenic
Select item 1298390	NM_003611.3(OFD1):c.1030C>T (p.Arg344Ter)	OFD1 (R204* +1 more)	Single nucleotide variant (nonsense +1 more)	Simpson-Golabi-Behmel syndrome type 2 +4 more	GConflicting classifications of pathogenicity
Select item 1246944	NM_003611.3(OFD1):c.2117C>T (p.Thr706Ile)	OFD1 (T566I +2 more)	Single nucleotide variant (missense variant)	OFD1-related disorder +7 more	GBenign/Likely benign
Select item 1226749	NM_003611.3(OFD1):c.1412-11del	OFD1	Deletion (intron variant)	Orofaciodigital syndrome I +4 more	GBenign
Select item 1179099	NM_003611.3(OFD1):c.1411+1G>A	OFD1	Single nucleotide variant (splice donor variant)	Retinitis pigmentosa 23 +3 more	GPathogenic
Select item 1168272	NM_003611.3(OFD1):c.2488+14_2488+19del	OFD1	Deletion (intron variant)	Retinitis pigmentosa 23 +5 more	GBenign/Likely benign
Select item 1167595	NM_003611.3(OFD1):c.494C>T (p.Ser165Leu)	OFD1 (S165L +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +5 more	GConflicting classifications of pathogenicity
Select item 1167480	NM_003611.3(OFD1):c.2260+12G>A	OFD1	Single nucleotide variant (intron variant)	Orofaciodigital syndrome I +4 more	GBenign/Likely benign
Select item 1164288	NM_003611.3(OFD1):c.2996+16AC[2]	OFD1	Microsatellite (intron variant)	Familial aplasia of the vermis +4 more	GBenign/Likely benign
Select item 1164101	NM_003611.3(OFD1):c.517+13_517+14delinsGC	OFD1	Indel (intron variant)	Familial aplasia of the vermis +4 more	GBenign/Likely benign
Select item 1045493	NM_003611.3(OFD1):c.3021A>T (p.Glu1007Asp)	OFD1 (E1007D +2 more)	Single nucleotide variant (missense variant)	Familial aplasia of the vermis +4 more	GUncertain significance
Select item 1038468	NM_003611.3(OFD1):c.1589C>G (p.Ala530Gly)	OFD1 (A490G +2 more)	Single nucleotide variant (missense variant)	Orofaciodigital syndrome I +4 more	GUncertain significance
Select item 1031341	NM_003611.3(OFD1):c.935+4A>G	OFD1	Single nucleotide variant (intron variant)	Orofaciodigital syndrome I +5 more	GUncertain significance
Select item 1031340	NM_003611.3(OFD1):c.3G>A (p.Met1Ile)	LOC126863212, OFD1 (M1I)	Single nucleotide variant (missense variant +2 more)	Primary ciliary dyskinesia +3 more	GUncertain significance
Select item 994698	NM_003611.3(OFD1):c.1347A>G (p.Ala449=)	OFD1	Single nucleotide variant (synonymous variant)	Joubert syndrome 10 +6 more	GLikely benign
Select item 982582	NM_003611.3(OFD1):c.2176C>T (p.Arg726Cys)	OFD1 (R586C +2 more)	Single nucleotide variant (missense variant)	Familial aplasia of the vermis +2 more	GConflicting classifications of pathogenicity
Select item 982095	NM_001378615.1(CC2D2A):c.4555T>C (p.Trp1519Arg)	CC2D2A (W1470R +1 more)	Single nucleotide variant (missense variant)	Joubert syndrome 10 +1 more	GPathogenic/Likely pathogenic
Select item 978060	NM_003611.3(OFD1):c.599T>C (p.Leu200Pro)	OFD1 (L200P +1 more)	Single nucleotide variant (missense variant)	Joubert syndrome 10	GPathogenic
Select item 976442	NM_003611.3(OFD1):c.2387+1G>A	OFD1	Single nucleotide variant (splice donor variant)	Joubert syndrome 10	GLikely pathogenic
Select item 793761	NM_003611.3(OFD1):c.216C>A (p.Gly72=)	OFD1	Single nucleotide variant (synonymous variant +1 more)	Joubert syndrome 10 +4 more	GLikely benign
Select item 699265	NM_003611.3(OFD1):c.688A>G (p.Ile230Val)	OFD1 (I230V +1 more)	Single nucleotide variant (missense variant)	Simpson-Golabi-Behmel syndrome type 2 +4 more	GBenign/Likely benign
Select item 696854	NM_003611.3(OFD1):c.2235C>T (p.Ser745=)	OFD1	Single nucleotide variant (synonymous variant)	not provided +6 more	GBenign/Likely benign
Select item 689774	NM_003611.3(OFD1):c.604_609del (p.Glu202_Tyr203del)	OFD1	Deletion (inframe_deletion)	Simpson-Golabi-Behmel syndrome type 2 +2 more	GUncertain significance
Select item 593063	NM_003611.3(OFD1):c.730A>G (p.Met244Val)	OFD1 (M244V +1 more)	Single nucleotide variant (missense variant)	Simpson-Golabi-Behmel syndrome type 2 +4 more	GUncertain significance
Select item 593017	NM_003611.3(OFD1):c.2022C>A (p.His674Gln)	OFD1 (H674Q +2 more)	Single nucleotide variant (missense variant)	Simpson-Golabi-Behmel syndrome type 2 +4 more	GUncertain significance
Select item 590230	NM_003611.3(OFD1):c.634C>T (p.Arg212Trp)	OFD1 (R212W +1 more)	Single nucleotide variant (missense variant)	Familial aplasia of the vermis +5 more	GUncertain significance
Select item 588180	NM_003611.3(OFD1):c.2297G>T (p.Cys766Phe)	OFD1 (C766F +2 more)	Single nucleotide variant (missense variant)	Joubert syndrome 10 +4 more	GUncertain significance
Select item 571289	NM_003611.3(OFD1):c.324G>A (p.Met108Ile)	OFD1 (M108I)	Single nucleotide variant (missense variant +1 more)	not specified +6 more	GConflicting classifications of pathogenicity
Select item 568118	NM_003611.3(OFD1):c.2482T>G (p.Phe828Val)	OFD1 (F828V +2 more)	Single nucleotide variant (missense variant)	not provided +5 more	GBenign/Likely benign
Select item 532267	NM_003611.3(OFD1):c.892G>A (p.Gly298Arg)	OFD1 (G298R +1 more)	Single nucleotide variant (missense variant)	Orofaciodigital syndrome I +4 more	GConflicting classifications of pathogenicity
Select item 532266	NM_003611.3(OFD1):c.1468G>A (p.Glu490Lys)	OFD1 (E490K +2 more)	Single nucleotide variant (missense variant)	Orofaciodigital syndrome I +4 more	GUncertain significance
Select item 488753	NM_003611.3(OFD1):c.991C>T (p.Gln331Ter)	OFD1 (Q331* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GLikely pathogenic
Select item 430297	NM_003611.3(OFD1):c.538GAT[1] (p.Asp181del)	OFD1 (D181del +1 more)	Microsatellite (inframe_deletion)	Joubert syndrome 10 +1 more	GLikely pathogenic
Select item 412874	NM_003611.3(OFD1):c.1694T>C (p.Val565Ala)	OFD1 (V565A +2 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +5 more	GBenign/Likely benign
Select item 412873	NM_003611.3(OFD1):c.282C>T (p.Phe94=)	OFD1	Single nucleotide variant (synonymous variant +1 more)	Simpson-Golabi-Behmel syndrome type 2 +4 more	GLikely benign
Select item 259098	NM_003611.3(OFD1):c.2929-18C>T	OFD1	Single nucleotide variant (intron variant)	not specified +6 more	GBenign/Likely benign
Select item 259096	NM_003611.3(OFD1):c.1654+14T>A	OFD1	Single nucleotide variant (intron variant)	Familial aplasia of the vermis +5 more	GBenign/Likely benign
Select item 217687	NM_003611.3(OFD1):c.149A>G (p.His50Arg)	OFD1 (H50R)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 10 +3 more	GConflicting classifications of pathogenicity
Select item 217686	NM_003611.3(OFD1):c.2668C>T (p.Arg890Ter)	OFD1 (R890* +2 more)	Single nucleotide variant (nonsense)	Joubert syndrome 10 +4 more	GPathogenic
Select item 217685	NM_003611.3(OFD1):c.277G>T (p.Val93Phe)	OFD1 (V93F)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 10	GPathogenic
Select item 211787	NM_003611.3(OFD1):c.2584T>G (p.Ser862Ala)	OFD1 (S862A +2 more)	Single nucleotide variant (missense variant)	not specified +6 more	GConflicting classifications of pathogenicity
Select item 188156	NM_003611.3(OFD1):c.1294A>G (p.Lys432Glu)	OFD1 (K432E +2 more)	Single nucleotide variant (missense variant)	Orofaciodigital syndrome I +8 more	GBenign/Likely benign
Select item 159473	NM_003611.3(OFD1):c.714T>C (p.Tyr238=)	OFD1	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia +6 more	GBenign/Likely benign
Select item 159472	NM_003611.3(OFD1):c.2663A>C (p.Lys888Thr)	OFD1 (K888T +2 more)	Single nucleotide variant (missense variant)	not provided +7 more	GBenign/Likely benign
Select item 94370	NM_003611.3(OFD1):c.1129+16A>G	OFD1	Single nucleotide variant (intron variant)	Orofaciodigital syndrome I +6 more	GBenign
Select item 41143	NM_003611.3(OFD1):c.710dup (p.Tyr238fs)	OFD1 (Y98fs +1 more)	Duplication (frameshift variant)	Orofaciodigital syndrome I +4 more	GPathogenic
Select item 41117	NM_003611.3(OFD1):c.400_403del (p.Glu134fs)	OFD1 (E134fs)	Deletion (frameshift variant +1 more)	Joubert syndrome 10 +5 more	GPathogenic
Select item 41088	NM_003611.3(OFD1):c.1923G>A (p.Glu641=)	OFD1	Single nucleotide variant (synonymous variant)	Familial aplasia of the vermis +7 more	GBenign/Likely benign
Select item 41066	NM_003611.3(OFD1):c.121C>T (p.Arg41Ter)	OFD1 (R41*)	Single nucleotide variant (nonsense +1 more)	Familial aplasia of the vermis +4 more	GPathogenic
Select item 41065	NM_003611.3(OFD1):c.1193_1196del (p.Gln398fs)	OFD1 (Q358fs +2 more)	Microsatellite (frameshift variant)	Orofaciodigital syndrome I +4 more	GPathogenic
Select item 35485	NM_003611.3(OFD1):c.689_706del (p.Ile230_Lys235del)	OFD1	Deletion (inframe_deletion)	Joubert syndrome 10	GPathogenic
Select item 11545	NM_003611.3(OFD1):c.2767del (p.Glu923fs)	OFD1 (E923fs +2 more)	Deletion (frameshift variant)	Joubert syndrome 10	GPathogenic
Select item 11544	NM_003611.3(OFD1):c.2844_2850del (p.Lys948fs)	OFD1 (K908fs +2 more)	Deletion (frameshift variant)	Joubert syndrome 10	GPathogenic

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Items: 65