ClinVar for MedGen (Select 7517) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2954393	NM_016169.4(SUFU):c.669G>C (p.Leu223=)	SUFU	Single nucleotide variant (synonymous variant)	Gorlin syndrome +1 more	GLikely benign
Select item 2954358	NM_016169.4(SUFU):c.969C>G (p.Val323=)	SUFU	Single nucleotide variant (synonymous variant)	Gorlin syndrome +1 more	GLikely benign
Select item 2954357	NM_016169.4(SUFU):c.711C>T (p.Asp237=)	SUFU	Single nucleotide variant (synonymous variant)	Gorlin syndrome +1 more	GLikely benign
Select item 2954341	NM_016169.4(SUFU):c.1366-15T>A	SUFU	Single nucleotide variant (intron variant)	Gorlin syndrome +1 more	GLikely benign
Select item 2954211	NM_016169.4(SUFU):c.624A>C (p.Leu208=)	SUFU	Single nucleotide variant (synonymous variant)	Gorlin syndrome +1 more	GLikely benign
Select item 2954028	NM_016169.4(SUFU):c.320T>G (p.Phe107Cys)	SUFU (F107C)	Single nucleotide variant (missense variant)	Gorlin syndrome +1 more	GUncertain significance
Select item 2953999	NM_016169.4(SUFU):c.1360G>C (p.Glu454Gln)	SUFU (E454Q)	Single nucleotide variant (missense variant)	Gorlin syndrome +1 more	GUncertain significance
Select item 2953733	NM_016169.4(SUFU):c.1183T>G (p.Phe395Val)	SUFU (F395V)	Single nucleotide variant (missense variant)	Gorlin syndrome +1 more	GUncertain significance
Select item 2953442	NM_016169.4(SUFU):c.1444C>T (p.Pro482Ser)	SUFU (P482S)	Single nucleotide variant (missense variant)	Gorlin syndrome +1 more	GUncertain significance
Select item 2953412	NM_016169.4(SUFU):c.597+6dup	SUFU	Duplication (intron variant)	Gorlin syndrome +1 more	GLikely benign
Select item 2953227	NM_016169.4(SUFU):c.834G>A (p.Leu278=)	SUFU	Single nucleotide variant (synonymous variant)	Gorlin syndrome +1 more	GLikely benign
Select item 2953040	NM_016169.4(SUFU):c.144G>T (p.Gln48His)	SUFU (Q48H)	Single nucleotide variant (missense variant)	Gorlin syndrome +1 more	GUncertain significance
Select item 2952844	NM_016169.4(SUFU):c.649C>A (p.Gln217Lys)	SUFU (Q217K)	Single nucleotide variant (missense variant)	Gorlin syndrome +1 more	GUncertain significance
Select item 2952791	NM_016169.4(SUFU):c.965C>T (p.Pro322Leu)	SUFU (P322L)	Single nucleotide variant (missense variant)	Gorlin syndrome +1 more	GUncertain significance
Select item 2952545	NM_016169.4(SUFU):c.1145C>G (p.Pro382Arg)	SUFU (P382R)	Single nucleotide variant (missense variant)	Gorlin syndrome +1 more	GUncertain significance
Select item 2952243	NM_016169.4(SUFU):c.385G>A (p.Gly129Arg)	SUFU (G129R)	Single nucleotide variant (missense variant)	Gorlin syndrome +1 more	GUncertain significance
Select item 2952167	NM_016169.4(SUFU):c.1022C>G (p.Pro341Arg)	SUFU (P341R)	Single nucleotide variant (missense variant)	Gorlin syndrome +1 more	GUncertain significance
Select item 2951529	NM_016169.4(SUFU):c.183-4_247del	SUFU	Deletion (splice acceptor variant)	Gorlin syndrome +1 more	GLikely pathogenic
Select item 2951376	NM_016169.4(SUFU):c.531G>C (p.Met177Ile)	SUFU (M177I)	Single nucleotide variant (missense variant)	Gorlin syndrome +1 more	GUncertain significance
Select item 2950940	NM_016169.4(SUFU):c.939G>A (p.Arg313=)	SUFU	Single nucleotide variant (synonymous variant)	Gorlin syndrome +2 more	GLikely benign
Select item 2950571	NM_016169.4(SUFU):c.1233G>C (p.Thr411=)	SUFU	Single nucleotide variant (synonymous variant)	Gorlin syndrome +1 more	GLikely benign
Select item 2950570	NM_016169.4(SUFU):c.852T>A (p.Asp284Glu)	SUFU (D284E)	Single nucleotide variant (missense variant)	Gorlin syndrome +1 more	GUncertain significance
Select item 2950534	NM_016169.4(SUFU):c.581T>C (p.Val194Ala)	SUFU (V194A)	Single nucleotide variant (missense variant)	Gorlin syndrome +1 more	GUncertain significance
Select item 2950532	NM_016169.4(SUFU):c.853G>A (p.Asp285Asn)	SUFU (D285N)	Single nucleotide variant (missense variant)	Gorlin syndrome +1 more	GUncertain significance
Select item 2950339	NM_016169.4(SUFU):c.684-6C>T	SUFU	Single nucleotide variant (intron variant)	Gorlin syndrome +1 more	GLikely benign
Select item 2950325	NM_016169.4(SUFU):c.318-17C>T	SUFU	Single nucleotide variant (intron variant)	Gorlin syndrome +1 more	GLikely benign
Select item 2950082	NM_016169.4(SUFU):c.455-11C>G	SUFU	Single nucleotide variant (intron variant)	Gorlin syndrome +1 more	GLikely benign
Select item 2950046	NM_016169.4(SUFU):c.841C>G (p.Pro281Ala)	SUFU (P281A)	Single nucleotide variant (missense variant)	Gorlin syndrome +1 more	GUncertain significance
Select item 2949766	NM_016169.4(SUFU):c.1157+13del	SUFU	Deletion (intron variant)	Gorlin syndrome +1 more	GLikely benign
Select item 2949717	NM_016169.4(SUFU):c.1158-9C>T	SUFU	Single nucleotide variant (intron variant)	Gorlin syndrome +1 more	GLikely benign
Select item 2949489	NM_016169.4(SUFU):c.777C>A (p.Ile259=)	SUFU	Single nucleotide variant (synonymous variant)	Gorlin syndrome +1 more	GLikely benign
Select item 2949183	NM_016169.4(SUFU):c.809G>A (p.Ser270Asn)	SUFU (S270N)	Single nucleotide variant (missense variant)	Gorlin syndrome +1 more	GUncertain significance
Select item 2949180	NM_016169.4(SUFU):c.1001G>C (p.Gly334Ala)	SUFU (G334A)	Single nucleotide variant (missense variant)	Gorlin syndrome +1 more	GUncertain significance
Select item 2949150	NM_016169.4(SUFU):c.317+12C>T	SUFU	Single nucleotide variant (intron variant)	Gorlin syndrome +1 more	GLikely benign
Select item 2949074	NM_016169.4(SUFU):c.429C>G (p.Gly143=)	SUFU	Single nucleotide variant (synonymous variant)	Gorlin syndrome +1 more	GLikely benign
Select item 2948785	NM_016169.4(SUFU):c.938G>A (p.Arg313Lys)	SUFU (R313K)	Single nucleotide variant (missense variant)	Gorlin syndrome +1 more	GUncertain significance
Select item 2948781	NM_016169.4(SUFU):c.775A>G (p.Ile259Val)	SUFU (I259V)	Single nucleotide variant (missense variant)	Gorlin syndrome +1 more	GUncertain significance
Select item 2948519	NM_016169.4(SUFU):c.1140C>G (p.Leu380=)	SUFU	Single nucleotide variant (synonymous variant)	Gorlin syndrome +1 more	GLikely benign
Select item 2948513	NM_016169.4(SUFU):c.334G>A (p.Gly112Arg)	SUFU (G112R)	Single nucleotide variant (missense variant)	Gorlin syndrome +1 more	GUncertain significance
Select item 2948436	NM_016169.4(SUFU):c.911-14T>C	SUFU	Single nucleotide variant (intron variant)	Gorlin syndrome +1 more	GLikely benign
Select item 2948265	NM_016169.4(SUFU):c.702G>T (p.Leu234=)	SUFU	Single nucleotide variant (synonymous variant)	Gorlin syndrome +1 more	GLikely benign
Select item 2948193	NM_016169.4(SUFU):c.663G>T (p.Glu221Asp)	SUFU (E221D)	Single nucleotide variant (missense variant)	Gorlin syndrome +1 more	GUncertain significance
Select item 2948048	NM_016169.4(SUFU):c.683+21_683+24dup	SUFU	Duplication (intron variant)	Gorlin syndrome +1 more	GLikely benign
Select item 2947720	NM_016169.4(SUFU):c.183-11G>T	SUFU	Single nucleotide variant (intron variant)	Gorlin syndrome +1 more	GLikely benign
Select item 2947701	NM_016169.4(SUFU):c.231G>T (p.Val77=)	SUFU	Single nucleotide variant (synonymous variant)	Gorlin syndrome +1 more	GLikely benign
Select item 2947466	NM_016169.4(SUFU):c.618A>T (p.Glu206Asp)	SUFU (E206D)	Single nucleotide variant (missense variant)	Gorlin syndrome +1 more	GUncertain significance
Select item 2947404	NM_016169.4(SUFU):c.1022+12A>C	SUFU	Single nucleotide variant (intron variant)	Gorlin syndrome +1 more	GLikely benign
Select item 2946987	NM_016169.4(SUFU):c.894dup (p.Arg299fs)	SUFU (R299fs)	Duplication (frameshift variant)	Gorlin syndrome +1 more	GPathogenic
Select item 2946932	NM_016169.4(SUFU):c.793A>T (p.Asn265Tyr)	SUFU (N265Y)	Single nucleotide variant (missense variant)	Gorlin syndrome +1 more	GUncertain significance
Select item 2946584	NM_016169.4(SUFU):c.1295A>C (p.Gln432Pro)	SUFU (Q432P)	Single nucleotide variant (missense variant)	Gorlin syndrome +1 more	GUncertain significance
Select item 2946423	NM_016169.4(SUFU):c.668T>C (p.Leu223Pro)	SUFU (L223P)	Single nucleotide variant (missense variant)	Gorlin syndrome +1 more	GUncertain significance
Select item 2946140	NM_016169.4(SUFU):c.1012G>C (p.Asp338His)	SUFU (D338H)	Single nucleotide variant (missense variant)	Gorlin syndrome +1 more	GUncertain significance
Select item 2946114	NM_016169.4(SUFU):c.460A>T (p.Thr154Ser)	SUFU (T154S)	Single nucleotide variant (missense variant)	Gorlin syndrome +1 more	GUncertain significance
Select item 2946053	NM_016169.4(SUFU):c.242C>A (p.Ser81Tyr)	SUFU (S81Y)	Single nucleotide variant (missense variant)	Gorlin syndrome +1 more	GUncertain significance
Select item 2945856	NM_016169.4(SUFU):c.256G>T (p.Glu86Ter)	SUFU (E86*)	Single nucleotide variant (nonsense)	Gorlin syndrome +1 more	GPathogenic
Select item 2945663	NM_016169.4(SUFU):c.812C>A (p.Ala271Asp)	SUFU (A271D)	Single nucleotide variant (missense variant)	Gorlin syndrome +1 more	GUncertain significance
Select item 2945640	NM_016169.4(SUFU):c.597+19G>T	SUFU	Single nucleotide variant (intron variant)	Gorlin syndrome +1 more	GLikely benign
Select item 2945246	NM_016169.4(SUFU):c.1246_1249dup (p.Phe417fs)	SUFU (F417fs)	Duplication (frameshift variant)	Gorlin syndrome +1 more	GPathogenic
Select item 2945217	NM_016169.4(SUFU):c.883A>G (p.Thr295Ala)	SUFU (T295A)	Single nucleotide variant (missense variant)	Gorlin syndrome +1 more	GUncertain significance
Select item 2945060	NM_016169.4(SUFU):c.907A>G (p.Lys303Glu)	SUFU (K303E)	Single nucleotide variant (missense variant)	Gorlin syndrome +1 more	GUncertain significance
Select item 2944874	NM_016169.4(SUFU):c.1446G>T (p.Pro482=)	SUFU	Single nucleotide variant (synonymous variant)	Gorlin syndrome +2 more	GLikely benign
Select item 2944763	NM_016169.4(SUFU):c.911-2A>C	SUFU	Single nucleotide variant (splice acceptor variant)	Gorlin syndrome +1 more	GLikely pathogenic
Select item 2944665	NM_016169.4(SUFU):c.494G>C (p.Ser165Thr)	SUFU (S165T)	Single nucleotide variant (missense variant)	Gorlin syndrome +1 more	GUncertain significance
Select item 2944270	NM_016169.4(SUFU):c.1191del (p.Thr396_Tyr397insTer)	SUFU	Deletion (nonsense)	Gorlin syndrome +1 more	GPathogenic
Select item 2944230	NM_016169.4(SUFU):c.683+18G>A	SUFU	Single nucleotide variant (intron variant)	Gorlin syndrome +1 more	GLikely benign
Select item 2944110	NM_016169.4(SUFU):c.28C>G (p.Pro10Ala)	LOC130004614, SUFU (P10A)	Single nucleotide variant (missense variant)	Gorlin syndrome +1 more	GUncertain significance
Select item 2943943	NM_016169.4(SUFU):c.1179G>A (p.Arg393=)	SUFU	Single nucleotide variant (synonymous variant)	Gorlin syndrome +1 more	GLikely benign
Select item 2943914	NM_016169.4(SUFU):c.911-1G>T	SUFU	Single nucleotide variant (splice acceptor variant)	Gorlin syndrome +1 more	GLikely pathogenic
Select item 2943724	NM_016169.4(SUFU):c.87_88del (p.Phe30fs)	LOC130004614, SUFU (F30fs)	Microsatellite (frameshift variant)	Gorlin syndrome +1 more	GPathogenic
Select item 2943612	NM_016169.4(SUFU):c.209A>G (p.Tyr70Cys)	SUFU (Y70C)	Single nucleotide variant (missense variant)	Gorlin syndrome +1 more	GUncertain significance
Select item 2943540	NM_016169.4(SUFU):c.890C>G (p.Pro297Arg)	SUFU (P297R)	Single nucleotide variant (missense variant)	Gorlin syndrome +1 more	GUncertain significance
Select item 2942320	NM_016169.4(SUFU):c.1296+5G>A	SUFU	Single nucleotide variant (intron variant)	Gorlin syndrome +1 more	GUncertain significance
Select item 2942151	NM_016169.4(SUFU):c.136C>A (p.Pro46Thr)	SUFU (P46T)	Single nucleotide variant (missense variant)	Gorlin syndrome +1 more	GUncertain significance
Select item 2941774	NM_016169.4(SUFU):c.454+20TGCTG[3]	SUFU	Microsatellite (intron variant)	Gorlin syndrome +1 more	GLikely benign
Select item 2941733	NM_016169.4(SUFU):c.455-10T>A	SUFU	Single nucleotide variant (intron variant)	Gorlin syndrome +1 more	GUncertain significance
Select item 2941696	NM_016169.4(SUFU):c.317+9A>G	SUFU	Single nucleotide variant (intron variant)	Gorlin syndrome +1 more	GLikely benign
Select item 2941631	NM_016169.4(SUFU):c.1079T>G (p.Leu360Arg)	SUFU (L360R)	Single nucleotide variant (missense variant)	Gorlin syndrome +1 more	GUncertain significance
Select item 2941609	NM_016169.4(SUFU):c.455-20T>A	SUFU	Single nucleotide variant (intron variant)	Gorlin syndrome +1 more	GLikely benign
Select item 2941550	NM_016169.4(SUFU):c.756+10G>T	SUFU	Single nucleotide variant (intron variant)	Gorlin syndrome +1 more	GUncertain significance
Select item 2941047	NM_016169.4(SUFU):c.553A>T (p.Met185Leu)	SUFU (M185L)	Single nucleotide variant (missense variant)	Gorlin syndrome +1 more	GUncertain significance
Select item 2941032	NM_016169.4(SUFU):c.684-5C>T	SUFU	Single nucleotide variant (intron variant)	Gorlin syndrome +1 more	GLikely benign
Select item 2940403	NM_016169.4(SUFU):c.683+19T>C	SUFU	Single nucleotide variant (intron variant)	Gorlin syndrome +1 more	GLikely benign
Select item 2940292	NM_016169.4(SUFU):c.826G>A (p.Asp276Asn)	SUFU (D276N)	Single nucleotide variant (missense variant)	Gorlin syndrome +1 more	GUncertain significance
Select item 2939845	NM_016169.4(SUFU):c.31G>A (p.Gly11Ser)	LOC130004614, SUFU (G11S)	Single nucleotide variant (missense variant)	Gorlin syndrome +1 more	GUncertain significance
Select item 2939833	NM_016169.4(SUFU):c.1308C>G (p.Thr436=)	SUFU	Single nucleotide variant (synonymous variant)	Gorlin syndrome +1 more	GLikely benign
Select item 2939791	NM_016169.4(SUFU):c.1023-18C>G	SUFU	Single nucleotide variant (intron variant)	Gorlin syndrome +1 more	GLikely benign
Select item 2939765	NM_016169.4(SUFU):c.997A>G (p.Asn333Asp)	SUFU (N333D)	Single nucleotide variant (missense variant)	Gorlin syndrome +1 more	GUncertain significance
Select item 2939468	NM_016169.4(SUFU):c.1268C>T (p.Pro423Leu)	SUFU (P423L)	Single nucleotide variant (missense variant)	Gorlin syndrome +1 more	GUncertain significance
Select item 2939346	NM_016169.4(SUFU):c.318-11A>G	SUFU	Single nucleotide variant (intron variant)	Gorlin syndrome +1 more	GLikely benign
Select item 2938781	NM_016169.4(SUFU):c.597+9C>A	SUFU	Single nucleotide variant (intron variant)	Gorlin syndrome +1 more	GLikely benign
Select item 2938738	NM_016169.4(SUFU):c.1365+7T>A	SUFU	Single nucleotide variant (intron variant)	Gorlin syndrome +1 more	GLikely benign
Select item 2938251	NM_016169.4(SUFU):c.1026C>A (p.Ser342Arg)	SUFU (S342R)	Single nucleotide variant (missense variant)	Gorlin syndrome +1 more	GUncertain significance
Select item 2938032	NM_016169.4(SUFU):c.964C>G (p.Pro322Ala)	SUFU (P322A)	Single nucleotide variant (missense variant)	Gorlin syndrome +1 more	GUncertain significance
Select item 2937768	NM_016169.4(SUFU):c.62C>T (p.Thr21Ile)	LOC130004614, SUFU (T21I)	Single nucleotide variant (missense variant)	Gorlin syndrome +1 more	GUncertain significance
Select item 2937651	NM_016169.4(SUFU):c.683+8C>G	SUFU	Single nucleotide variant (intron variant)	Gorlin syndrome +1 more	GLikely benign
Select item 2937584	NM_016169.4(SUFU):c.1018G>A (p.Ala340Thr)	SUFU (A340T)	Single nucleotide variant (missense variant)	Gorlin syndrome +1 more	GUncertain significance
Select item 2937165	NM_016169.4(SUFU):c.1155A>G (p.Leu385=)	SUFU	Single nucleotide variant (synonymous variant)	Gorlin syndrome +1 more	GLikely benign
Select item 2937081	NM_016169.4(SUFU):c.683+10C>A	SUFU	Single nucleotide variant (intron variant)	Gorlin syndrome +1 more	GLikely benign
Select item 2936631	NM_016169.4(SUFU):c.1055C>G (p.Ser352Cys)	SUFU (S352C)	Single nucleotide variant (missense variant)	Gorlin syndrome +1 more	GUncertain significance
Select item 2936502	NM_016169.4(SUFU):c.1429G>T (p.Val477Leu)	SUFU (V477L)	Single nucleotide variant (missense variant)	Gorlin syndrome +1 more	GUncertain significance

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