ClinVar for MedGen (Select 96586) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3896088	NM_052989.3(IFT122):c.748del (p.Arg250fs)	IFT122 (R100fs +6 more)	Deletion (frameshift variant)	Cranioectodermal dysplasia 1	GPathogenic
Select item 3779758	NM_052989.3(IFT122):c.293dup (p.Cys98fs)	IFT122 (C149fs +1 more)	Duplication (frameshift variant +2 more)	Cranioectodermal dysplasia 1	GLikely pathogenic
Select item 3776113	NM_052989.3(IFT122):c.193+4A>G	IFT122	Single nucleotide variant (intron variant)	Cranioectodermal dysplasia 1	GUncertain significance
Select item 3775192	NM_052989.3(IFT122):c.234_235insTA (p.Ile79Ter)	IFT122 (I79*)	Insertion (nonsense +2 more)	Cranioectodermal dysplasia 1	GLikely pathogenic
Select item 3730478	NM_052989.3(IFT122):c.3687C>T (p.Cys1229=)	IFT122	Single nucleotide variant (synonymous variant)	Cranioectodermal dysplasia 1	GLikely benign
Select item 3728438	NM_052989.3(IFT122):c.3354C>T (p.Pro1118=)	IFT122	Single nucleotide variant (synonymous variant)	Cranioectodermal dysplasia 1	GLikely benign
Select item 3725599	NM_052989.3(IFT122):c.588C>T (p.Asn196=)	IFT122	Single nucleotide variant (synonymous variant +1 more)	Cranioectodermal dysplasia 1	GLikely benign
Select item 3722784	NM_052989.3(IFT122):c.2676A>G (p.Arg892=)	IFT122	Single nucleotide variant (synonymous variant)	Cranioectodermal dysplasia 1	GLikely benign
Select item 3717730	NM_052989.3(IFT122):c.2038A>G (p.Ser680Gly)	IFT122 (S471G +6 more)	Single nucleotide variant (missense variant +1 more)	Cranioectodermal dysplasia 1	GUncertain significance
Select item 3717428	NM_052989.3(IFT122):c.1851+8G>A	IFT122	Single nucleotide variant (intron variant)	Cranioectodermal dysplasia 1	GLikely benign
Select item 3716296	NM_052989.3(IFT122):c.2703C>A (p.Leu901=)	IFT122	Single nucleotide variant (synonymous variant)	Cranioectodermal dysplasia 1	GLikely benign
Select item 3715511	NM_052989.3(IFT122):c.516G>A (p.Pro172=)	IFT122	Single nucleotide variant (synonymous variant)	Cranioectodermal dysplasia 1	GLikely benign
Select item 3714235	NM_052989.3(IFT122):c.2547+18C>G	IFT122	Single nucleotide variant (intron variant)	Cranioectodermal dysplasia 1	GLikely benign
Select item 3713931	NM_052989.3(IFT122):c.3153+12G>A	IFT122	Single nucleotide variant (intron variant)	Cranioectodermal dysplasia 1	GLikely benign
Select item 3713229	NM_052989.3(IFT122):c.1993-13T>C	IFT122	Single nucleotide variant (intron variant)	Cranioectodermal dysplasia 1	GLikely benign
Select item 3709631	NM_052989.3(IFT122):c.1350+7A>G	IFT122	Single nucleotide variant (intron variant)	Cranioectodermal dysplasia 1	GLikely benign
Select item 3708427	NM_052989.3(IFT122):c.3422dup (p.Asp1142fs)	IFT122 (D1014fs +13 more)	Duplication (frameshift variant)	Cranioectodermal dysplasia 1	GPathogenic
Select item 3704984	NM_052989.3(IFT122):c.1350+9C>A	IFT122	Single nucleotide variant (intron variant)	Cranioectodermal dysplasia 1	GLikely benign
Select item 3704083	NM_052989.3(IFT122):c.3471+11C>T	IFT122	Single nucleotide variant (intron variant)	Cranioectodermal dysplasia 1	GLikely benign
Select item 3696776	NM_052989.3(IFT122):c.1386G>A (p.Val462=)	IFT122	Single nucleotide variant (synonymous variant)	Cranioectodermal dysplasia 1	GLikely benign
Select item 3692429	NM_052989.3(IFT122):c.2791+1G>A	IFT122	Single nucleotide variant (splice donor variant)	Cranioectodermal dysplasia 1	GLikely pathogenic
Select item 3691775	NM_052989.3(IFT122):c.1148-2A>G	IFT122	Single nucleotide variant (splice acceptor variant)	Cranioectodermal dysplasia 1	GLikely pathogenic
Select item 3691668	NM_052989.3(IFT122):c.1276_1277insAATGCATG (p.Val426fs)	IFT122 (V477fs +6 more)	Insertion (frameshift variant)	Cranioectodermal dysplasia 1	GPathogenic
Select item 3691667	NM_052989.3(IFT122):c.1274G>T (p.Arg425Leu)	IFT122 (R366L +6 more)	Single nucleotide variant (missense variant)	Cranioectodermal dysplasia 1	GUncertain significance
Select item 3691666	NM_052989.3(IFT122):c.1272C>T (p.Tyr424=)	IFT122	Single nucleotide variant (synonymous variant)	Cranioectodermal dysplasia 1	GLikely benign
Select item 3691220	NM_052989.3(IFT122):c.2112G>A (p.Gly704=)	IFT122, LOC126806810	Single nucleotide variant (synonymous variant)	Cranioectodermal dysplasia 1	GLikely benign
Select item 3681888	NM_052989.3(IFT122):c.2988-13C>T	IFT122	Single nucleotide variant (intron variant)	Cranioectodermal dysplasia 1	GLikely benign
Select item 3679340	NM_052989.3(IFT122):c.2064del (p.Glu689fs)	IFT122, LOC126806810 (E560fs +9 more)	Deletion (frameshift variant)	Cranioectodermal dysplasia 1	GPathogenic
Select item 3678433	NM_052989.3(IFT122):c.2382C>T (p.Ile794=)	IFT122	Single nucleotide variant (synonymous variant)	Cranioectodermal dysplasia 1	GLikely benign
Select item 3677550	NM_052989.3(IFT122):c.3536G>C (p.Arg1179Pro)	IFT122 (R1069P +13 more)	Single nucleotide variant (missense variant)	Cranioectodermal dysplasia 1	GUncertain significance
Select item 3677262	NM_052989.3(IFT122):c.1092C>T (p.Ala364=)	IFT122	Single nucleotide variant (synonymous variant)	Cranioectodermal dysplasia 1	GLikely benign
Select item 3676785	NM_052989.3(IFT122):c.1983A>G (p.Thr661=)	IFT122	Single nucleotide variant (synonymous variant)	Cranioectodermal dysplasia 1	GLikely benign
Select item 3676577	NM_052989.3(IFT122):c.1913G>C (p.Cys638Ser)	IFT122 (C488S +6 more)	Single nucleotide variant (missense variant)	Cranioectodermal dysplasia 1	GUncertain significance
Select item 3675112	NM_052989.3(IFT122):c.2987+12C>G	IFT122	Single nucleotide variant (intron variant)	Cranioectodermal dysplasia 1	GLikely benign
Select item 3670897	NM_052989.3(IFT122):c.1653+18G>A	IFT122	Single nucleotide variant (intron variant)	Cranioectodermal dysplasia 1	GLikely benign
Select item 3669684	NM_052989.3(IFT122):c.165T>C (p.Thr55=)	IFT122	Single nucleotide variant (synonymous variant +1 more)	Cranioectodermal dysplasia 1	GLikely benign
Select item 3661707	NM_052989.3(IFT122):c.3720C>T (p.Gly1240=)	IFT122	Single nucleotide variant (synonymous variant)	Cranioectodermal dysplasia 1	GLikely benign
Select item 3652266	NM_052989.3(IFT122):c.1993-16T>C	IFT122	Single nucleotide variant (intron variant)	Cranioectodermal dysplasia 1	GLikely benign
Select item 3649021	NM_052989.3(IFT122):c.3153+15C>A	IFT122	Single nucleotide variant (intron variant)	Cranioectodermal dysplasia 1	GLikely benign
Select item 3647932	NM_052989.3(IFT122):c.1009-12C>G	IFT122	Single nucleotide variant (intron variant)	Cranioectodermal dysplasia 1	GLikely benign
Select item 3647089	NM_052989.3(IFT122):c.3194dup (p.Leu1066fs)	IFT122 (L1007fs +13 more)	Duplication (frameshift variant)	Cranioectodermal dysplasia 1	GPathogenic
Select item 3644672	NM_052989.3(IFT122):c.193+2T>G	IFT122	Single nucleotide variant (splice donor variant)	Cranioectodermal dysplasia 1	GLikely pathogenic
Select item 3642802	NM_052989.3(IFT122):c.3265+7C>G	IFT122	Single nucleotide variant (intron variant)	Cranioectodermal dysplasia 1	GLikely benign
Select item 3632830	NM_052989.3(IFT122):c.349+12T>G	IFT122	Single nucleotide variant (intron variant)	Cranioectodermal dysplasia 1	GLikely benign
Select item 3632001	NM_052989.3(IFT122):c.1524C>T (p.Ile508=)	IFT122	Single nucleotide variant (synonymous variant)	Cranioectodermal dysplasia 1	GLikely benign
Select item 3626202	NM_052989.3(IFT122):c.1009-17G>A	IFT122	Single nucleotide variant (intron variant)	Cranioectodermal dysplasia 1	GLikely benign
Select item 3625993	NM_052989.3(IFT122):c.350-14A>G	IFT122	Single nucleotide variant (intron variant)	Cranioectodermal dysplasia 1	GLikely benign
Select item 3624450	NM_052989.3(IFT122):c.243A>G (p.Thr81=)	IFT122	Single nucleotide variant (synonymous variant +2 more)	Cranioectodermal dysplasia 1	GLikely benign
Select item 3621453	NM_052989.3(IFT122):c.273-292A>G	IFT122 (K119E)	Single nucleotide variant (missense variant +1 more)	Cranioectodermal dysplasia 1	GUncertain significance
Select item 3621437	NM_052989.3(IFT122):c.3576G>A (p.Trp1192Ter)	IFT122 (W1042* +13 more)	Single nucleotide variant (nonsense)	Cranioectodermal dysplasia 1	GPathogenic
Select item 3616198	NM_052989.3(IFT122):c.41+8G>A	IFT122, LOC129937552	Single nucleotide variant (intron variant)	Cranioectodermal dysplasia 1	GLikely benign
Select item 3605472	NM_052989.3(IFT122):c.1845G>A (p.Val615=)	IFT122	Single nucleotide variant (synonymous variant)	Cranioectodermal dysplasia 1	GUncertain significance
Select item 3604958	NM_052989.3(IFT122):c.419G>A (p.Trp140Ter)	IFT122 (W140* +2 more)	Single nucleotide variant (nonsense +1 more)	Cranioectodermal dysplasia 1	GPathogenic
Select item 3603651	NM_052989.3(IFT122):c.1635C>T (p.Thr545=)	IFT122	Single nucleotide variant (synonymous variant)	Cranioectodermal dysplasia 1	GLikely benign
Select item 3588509	NM_052989.3(IFT122):c.3709G>A (p.Asp1237Asn)	IFT122 (D1087N +13 more)	Single nucleotide variant (missense variant)	Cranioectodermal dysplasia 1 +1 more	GUncertain significance
Select item 3588508	NM_052989.3(IFT122):c.3692A>C (p.Tyr1231Ser)	IFT122 (Y1172S +13 more)	Single nucleotide variant (missense variant)	Cranioectodermal dysplasia 1	GUncertain significance
Select item 3588507	NM_052989.3(IFT122):c.3676C>G (p.His1226Asp)	IFT122 (H1076D +13 more)	Single nucleotide variant (missense variant)	Cranioectodermal dysplasia 1	GUncertain significance
Select item 3588506	NM_052989.3(IFT122):c.3664C>T (p.Leu1222=)	IFT122	Single nucleotide variant (synonymous variant)	Cranioectodermal dysplasia 1	GUncertain significance
Select item 3588505	NM_052989.3(IFT122):c.3656A>G (p.Tyr1219Cys)	IFT122 (Y1069C +13 more)	Single nucleotide variant (missense variant)	Cranioectodermal dysplasia 1 +1 more	GUncertain significance
Select item 3588504	NM_052989.3(IFT122):c.3628T>G (p.Cys1210Gly)	IFT122 (C1133G +13 more)	Single nucleotide variant (missense variant)	Cranioectodermal dysplasia 1	GUncertain significance
Select item 3588503	NM_052989.3(IFT122):c.3623C>T (p.Pro1208Leu)	IFT122 (P1058L +13 more)	Single nucleotide variant (missense variant)	Cranioectodermal dysplasia 1	GUncertain significance
Select item 3588502	NM_052989.3(IFT122):c.3616_3636+5del	IFT122	Deletion (splice donor variant)	Cranioectodermal dysplasia 1	GLikely pathogenic
Select item 3588501	NM_052989.3(IFT122):c.3508C>T (p.Arg1170Trp)	IFT122 (R1059W +13 more)	Single nucleotide variant (missense variant)	Cranioectodermal dysplasia 1	GUncertain significance
Select item 3588500	NM_052989.3(IFT122):c.3489C>G (p.Phe1163Leu)	IFT122 (F1145L +13 more)	Single nucleotide variant (missense variant)	Cranioectodermal dysplasia 1	GUncertain significance
Select item 3588499	NM_052989.3(IFT122):c.3472-5T>A	IFT122	Single nucleotide variant (intron variant)	Cranioectodermal dysplasia 1	GUncertain significance
Select item 3588498	NM_052989.3(IFT122):c.3471+9G>A	IFT122	Single nucleotide variant (intron variant)	Cranioectodermal dysplasia 1	GUncertain significance
Select item 3588497	NM_052989.3(IFT122):c.3450C>T (p.Phe1150=)	IFT122	Single nucleotide variant (synonymous variant)	Cranioectodermal dysplasia 1	GUncertain significance
Select item 3588496	NM_052989.3(IFT122):c.3429dup (p.Ile1144fs)	IFT122 (I1068fs +13 more)	Duplication (frameshift variant)	Cranioectodermal dysplasia 1	GLikely pathogenic
Select item 3588495	NM_052989.3(IFT122):c.3391+7A>T	IFT122	Single nucleotide variant (intron variant)	Cranioectodermal dysplasia 1	GUncertain significance
Select item 3588494	NM_052989.3(IFT122):c.3391+1G>A	IFT122	Single nucleotide variant (splice donor variant)	Cranioectodermal dysplasia 1	GLikely pathogenic
Select item 3588493	NM_052989.3(IFT122):c.3358C>T (p.Arg1120Trp)	IFT122 (R1043W +13 more)	Single nucleotide variant (missense variant)	Cranioectodermal dysplasia 1	GUncertain significance
Select item 3588492	NM_052989.3(IFT122):c.3307A>G (p.Thr1103Ala)	IFT122 (T1044A +13 more)	Single nucleotide variant (missense variant)	Cranioectodermal dysplasia 1	GUncertain significance
Select item 3588491	NM_052989.3(IFT122):c.3301G>A (p.Gly1101Arg)	IFT122 (G1101R +13 more)	Single nucleotide variant (missense variant)	Cranioectodermal dysplasia 1	GUncertain significance
Select item 3588490	NM_052989.3(IFT122):c.3278T>G (p.Leu1093Arg)	IFT122 (L1034R +13 more)	Single nucleotide variant (missense variant)	Cranioectodermal dysplasia 1	GUncertain significance
Select item 3588489	NM_052989.3(IFT122):c.3249C>A (p.Phe1083Leu)	IFT122 (F1007L +13 more)	Single nucleotide variant (missense variant)	Cranioectodermal dysplasia 1	GUncertain significance
Select item 3588488	NM_052989.3(IFT122):c.3233G>A (p.Arg1078His)	IFT122 (R1020H +13 more)	Single nucleotide variant (missense variant)	Cranioectodermal dysplasia 1	GUncertain significance
Select item 3588487	NM_052989.3(IFT122):c.3213C>T (p.Gly1071=)	IFT122	Single nucleotide variant (synonymous variant)	Cranioectodermal dysplasia 1	GUncertain significance
Select item 3588486	NM_052989.3(IFT122):c.3176G>A (p.Arg1059His)	IFT122 (R1000H +13 more)	Single nucleotide variant (missense variant)	Cranioectodermal dysplasia 1	GUncertain significance
Select item 3588485	NM_052989.3(IFT122):c.3154-17C>A	IFT122	Single nucleotide variant (intron variant)	Cranioectodermal dysplasia 1	GUncertain significance
Select item 3588484	NM_052989.3(IFT122):c.3153+16C>T	IFT122	Single nucleotide variant (intron variant)	Cranioectodermal dysplasia 1	GUncertain significance
Select item 3588483	NM_052989.3(IFT122):c.3098del (p.Lys1033fs)	IFT122 (K1034fs +13 more)	Deletion (frameshift variant)	Cranioectodermal dysplasia 1	GLikely pathogenic
Select item 3588482	NM_052989.3(IFT122):c.3079A>C (p.Ile1027Leu)	IFT122 (I1009L +13 more)	Single nucleotide variant (missense variant)	Cranioectodermal dysplasia 1	GUncertain significance
Select item 3588481	NM_052989.3(IFT122):c.3055T>C (p.Tyr1019His)	IFT122 (Y1012H +13 more)	Single nucleotide variant (missense variant)	Cranioectodermal dysplasia 1	GUncertain significance
Select item 3588480	NM_052989.3(IFT122):c.2999T>A (p.Phe1000Tyr)	IFT122 (F1051Y +13 more)	Single nucleotide variant (missense variant)	Cranioectodermal dysplasia 1	GUncertain significance
Select item 3588479	NM_052989.3(IFT122):c.2956C>T (p.Pro986Ser)	IFT122 (P1037S +13 more)	Single nucleotide variant (missense variant)	Cranioectodermal dysplasia 1	GUncertain significance
Select item 3588478	NM_052989.3(IFT122):c.2921T>C (p.Leu974Pro)	IFT122 (L846P +13 more)	Single nucleotide variant (missense variant)	Cranioectodermal dysplasia 1	GUncertain significance
Select item 3588477	NM_052989.3(IFT122):c.2909G>T (p.Arg970Leu)	IFT122 (R1021L +13 more)	Single nucleotide variant (missense variant)	Cranioectodermal dysplasia 1	GUncertain significance
Select item 3588476	NM_052989.3(IFT122):c.2899A>G (p.Ser967Gly)	IFT122 (S908G +13 more)	Single nucleotide variant (missense variant)	Cranioectodermal dysplasia 1	GUncertain significance
Select item 3588475	NM_052989.3(IFT122):c.2885C>T (p.Thr962Met)	IFT122 (T944M +13 more)	Single nucleotide variant (missense variant)	Cranioectodermal dysplasia 1	GUncertain significance
Select item 3588474	NM_052989.3(IFT122):c.2885C>A (p.Thr962Lys)	IFT122 (T812K +13 more)	Single nucleotide variant (missense variant)	Cranioectodermal dysplasia 1	GUncertain significance
Select item 3588473	NM_052989.3(IFT122):c.2866C>T (p.His956Tyr)	IFT122 (H747Y +13 more)	Single nucleotide variant (missense variant)	Cranioectodermal dysplasia 1	GUncertain significance
Select item 3588472	NM_052989.3(IFT122):c.2839C>T (p.Arg947Cys)	IFT122 (R738C +13 more)	Single nucleotide variant (missense variant)	Cranioectodermal dysplasia 1	GUncertain significance
Select item 3588471	NM_052989.3(IFT122):c.2792-5A>T	IFT122	Single nucleotide variant (intron variant +1 more)	Cranioectodermal dysplasia 1	GUncertain significance
Select item 3588470	NM_052989.3(IFT122):c.2780A>T (p.Asp927Val)	IFT122 (D978V +9 more)	Single nucleotide variant (missense variant)	Cranioectodermal dysplasia 1	GUncertain significance
Select item 3588469	NM_052989.3(IFT122):c.2727C>T (p.Ser909=)	IFT122	Single nucleotide variant (synonymous variant)	Cranioectodermal dysplasia 1	GUncertain significance
Select item 3588468	NM_052989.3(IFT122):c.2716G>A (p.Val906Met)	IFT122 (V829M +9 more)	Single nucleotide variant (missense variant)	Cranioectodermal dysplasia 1	GUncertain significance
Select item 3588467	NM_052989.3(IFT122):c.2708_2711del (p.Asn903fs)	IFT122 (N792fs +9 more)	Microsatellite (frameshift variant)	Cranioectodermal dysplasia 1	GLikely pathogenic
Select item 3588466	NM_052989.3(IFT122):c.2669G>A (p.Arg890Gln)	IFT122 (R813Q +9 more)	Single nucleotide variant (missense variant)	Cranioectodermal dysplasia 1	GUncertain significance
Select item 3588465	NM_052989.3(IFT122):c.2663C>A (p.Ala888Asp)	IFT122 (A738D +9 more)	Single nucleotide variant (missense variant)	Cranioectodermal dysplasia 1	GUncertain significance
Select item 3588464	NM_052989.3(IFT122):c.2650+1G>A	IFT122	Single nucleotide variant (splice donor variant)	Cranioectodermal dysplasia 1	GLikely pathogenic

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