ClinVar for MedGen (Select 1644883) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3065863	NM_019892.6(INPP5E):c.1442G>A (p.Arg481His)	INPP5E (R480H +1 more)	Single nucleotide variant (missense variant)	Joubert syndrome 1	GLikely pathogenic
Select item 3065009	NM_019892.6(INPP5E):c.136G>T (p.Glu46Ter)	INPP5E (E46*)	Single nucleotide variant (nonsense)	Joubert syndrome 1	GLikely pathogenic
Select item 2663858	NM_001384732.1(CPLANE1):c.7588+3A>G	CPLANE1	Single nucleotide variant (intron variant)	Joubert syndrome 1	GLikely pathogenic
Select item 2627486	NM_019892.6(INPP5E):c.856G>A (p.Gly286Arg)	INPP5E (G286R)	Single nucleotide variant (missense variant)	Joubert syndrome 1	GUncertain significance
Select item 1878525	NM_019892.6(INPP5E):c.1408G>A (p.Asp470Asn)	INPP5E (D469N +1 more)	Single nucleotide variant (missense variant)	Joubert syndrome 1	GUncertain significance
Select item 1805447	NM_019892.6(INPP5E):c.226dup (p.Ala76fs)	INPP5E (A76fs)	Duplication (frameshift variant)	Joubert syndrome 1	GPathogenic
Select item 1805381	NM_019892.6(INPP5E):c.1762T>C (p.Tyr588His)	INPP5E (Y587H +1 more)	Single nucleotide variant (missense variant)	Joubert syndrome 1	GLikely pathogenic
Select item 1437873	NM_019892.6(INPP5E):c.1534C>T (p.Arg512Trp)	INPP5E (R512W +1 more)	Single nucleotide variant (missense variant)	Joubert syndrome 1 +2 more	GUncertain significance
Select item 1395827	NM_001378615.1(CC2D2A):c.3688C>T (p.Arg1230Ter)	CC2D2A (R1230* +1 more)	Single nucleotide variant (nonsense)	Familial aplasia of the vermis +4 more	GPathogenic
Select item 1101653	NM_019892.6(INPP5E):c.813-9C>T	INPP5E	Single nucleotide variant (intron variant)	Familial aplasia of the vermis +2 more	GLikely benign
Select item 1077152	NM_001384732.1(CPLANE1):c.9063C>A (p.Tyr3021Ter)	CPLANE1 (Y2967* +1 more)	Single nucleotide variant (nonsense)	Joubert syndrome 1	GPathogenic
Select item 1065823	NM_019892.6(INPP5E):c.746C>T (p.Ser249Phe)	INPP5E (S249F)	Single nucleotide variant (missense variant)	Joubert syndrome 1 +5 more	GConflicting classifications of pathogenicity
Select item 1065696	NM_019892.6(INPP5E):c.[1787G>C;746C>T]	INPP5E (R596T +2 more)	Single nucleotide variant (missense variant)	Rod-cone dystrophy	GLikely pathogenic
Select item 1027152	NM_019892.6(INPP5E):c.1073C>T (p.Pro358Leu)	INPP5E (P358L)	Single nucleotide variant (missense variant)	Familial aplasia of the vermis +2 more	GConflicting classifications of pathogenicity
Select item 986376	NM_019892.6(INPP5E):c.1159+16_1159+33del	INPP5E	Deletion (splice donor variant)	Joubert syndrome 1 +1 more	GUncertain significance
Select item 982528	NM_025114.4(CEP290):c.[1666del];[6012-12T>A]			Leber congenital amaurosis	GPathogenic
Select item 933407	NM_019892.6(INPP5E):c.1360G>A (p.Asp454Asn)	INPP5E (D454N +1 more)	Single nucleotide variant (missense variant)	Familial aplasia of the vermis +1 more	GUncertain significance
Select item 931901	NM_019892.6(INPP5E):c.1666-12A>G	INPP5E	Single nucleotide variant (intron variant)	Familial aplasia of the vermis +1 more	GUncertain significance
Select item 931224	NM_019892.6(INPP5E):c.1312G>C (p.Asp438His)	INPP5E (D437H +1 more)	Single nucleotide variant (missense variant)	Joubert syndrome 1	GUncertain significance
Select item 931210	NM_019892.6(INPP5E):c.1897C>T (p.Gln633Ter)	INPP5E (Q632* +1 more)	Single nucleotide variant (nonsense)	Joubert syndrome 1	GLikely pathogenic
Select item 914994	NM_019892.6(INPP5E):c.-175C>T	INPP5E	Single nucleotide variant (5 prime UTR variant)	Joubert syndrome 1	GUncertain significance
Select item 914953	NM_019892.6(INPP5E):c.1192G>A (p.Val398Met)	INPP5E (V398M)	Single nucleotide variant (missense variant)	Joubert syndrome 1 +1 more	GUncertain significance
Select item 914907	NM_019892.6(INPP5E):c.*484C>G	INPP5E	Single nucleotide variant (3 prime UTR variant)	Joubert syndrome 1	GUncertain significance
Select item 914906	NM_019892.6(INPP5E):c.*559C>T	INPP5E	Single nucleotide variant (3 prime UTR variant)	Joubert syndrome 1	GUncertain significance
Select item 914905	NM_019892.6(INPP5E):c.*582C>T	INPP5E	Single nucleotide variant (3 prime UTR variant)	Joubert syndrome 1	GUncertain significance
Select item 914486	NM_019892.6(INPP5E):c.-149C>T	INPP5E	Single nucleotide variant (5 prime UTR variant)	Joubert syndrome 1	GUncertain significance
Select item 914485	NM_019892.6(INPP5E):c.-41C>T	INPP5E	Single nucleotide variant (5 prime UTR variant)	Joubert syndrome 1	GUncertain significance
Select item 914436	NM_019892.6(INPP5E):c.1393G>A (p.Val465Ile)	INPP5E (V464I +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 914435	NM_019892.6(INPP5E):c.1453G>A (p.Gly485Arg)	INPP5E (G485R +1 more)	Single nucleotide variant (missense variant)	Familial aplasia of the vermis +1 more	GUncertain significance
Select item 914393	NM_019892.6(INPP5E):c.*811G>A	INPP5E	Single nucleotide variant (3 prime UTR variant)	Joubert syndrome 1	GUncertain significance
Select item 913363	NM_019892.6(INPP5E):c.580C>G (p.Pro194Ala)	INPP5E (P194A)	Single nucleotide variant (missense variant)	Joubert syndrome 1 +1 more	GUncertain significance
Select item 913312	NM_019892.6(INPP5E):c.1547A>G (p.Lys516Arg)	INPP5E (K515R +1 more)	Single nucleotide variant (missense variant)	Joubert syndrome 1 +1 more	GUncertain significance
Select item 913311	NM_019892.6(INPP5E):c.1686C>T (p.Ser562=)	INPP5E	Single nucleotide variant (synonymous variant)	Joubert syndrome 1 +1 more	GConflicting classifications of pathogenicity
Select item 913000	NM_019892.6(INPP5E):c.1009G>C (p.Gly337Arg)	INPP5E (G337R)	Single nucleotide variant (missense variant)	Joubert syndrome 1	GUncertain significance
Select item 912999	NM_019892.6(INPP5E):c.1034+8G>A	INPP5E	Single nucleotide variant (intron variant)	Familial aplasia of the vermis +1 more	GConflicting classifications of pathogenicity
Select item 912998	NM_019892.6(INPP5E):c.1074G>A (p.Pro358=)	INPP5E	Single nucleotide variant (synonymous variant)	Familial aplasia of the vermis +1 more	GConflicting classifications of pathogenicity
Select item 912948	NM_019892.6(INPP5E):c.*13G>A	INPP5E	Single nucleotide variant (3 prime UTR variant)	Joubert syndrome 1	GUncertain significance
Select item 912947	NM_019892.6(INPP5E):c.*213C>T	INPP5E	Single nucleotide variant (3 prime UTR variant)	Joubert syndrome 1	GUncertain significance
Select item 866583	NM_019892.6(INPP5E):c.1505C>T (p.Pro502Leu)	INPP5E (P501L +1 more)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
Select item 866269	NM_019892.6(INPP5E):c.1402C>T (p.Arg468Cys)	INPP5E (R467C +1 more)	Single nucleotide variant (missense variant)	Familial aplasia of the vermis +4 more	GConflicting classifications of pathogenicity
Select item 849343	NM_019892.6(INPP5E):c.510C>G (p.Asn170Lys)	INPP5E (N170K)	Single nucleotide variant (missense variant)	Joubert syndrome 1 +1 more	GUncertain significance
Select item 837758	NM_019892.6(INPP5E):c.469G>T (p.Gly157Trp)	INPP5E (G157W)	Single nucleotide variant (missense variant)	Joubert syndrome 1 +2 more	GConflicting classifications of pathogenicity
Select item 836172	NM_019892.6(INPP5E):c.1649_1651dup (p.Arg550dup)	INPP5E	Duplication (inframe_insertion)	Joubert syndrome 1 +1 more	GUncertain significance
Select item 828109	NM_015202.5(KATNIP):c.4711A>G (p.Ser1571Gly)	KATNIP (S1571G)	Single nucleotide variant (missense variant)	Joubert syndrome 1 +1 more	GUncertain significance
Select item 802881	NM_025114.4(CEP290):c.14T>C (p.Ile5Thr)	CEP290 (I5T)	Single nucleotide variant (missense variant)	Joubert syndrome 1	GLikely pathogenic
Select item 802880	NM_025114.4(CEP290):c.223A>G (p.Lys75Glu)	CEP290 (K75E)	Single nucleotide variant (missense variant)	Joubert syndrome 1 +6 more	GConflicting classifications of pathogenicity
Select item 802879	NM_025114.4(CEP290):c.881C>G (p.Ser294Ter)	CEP290 (S294*)	Single nucleotide variant (nonsense)	Joubert syndrome 1	GPathogenic
Select item 802878	NM_025114.4(CEP290):c.1522+1G>C	CEP290	Single nucleotide variant (splice donor variant)	Joubert syndrome 1	GPathogenic
Select item 802877	NM_025114.4(CEP290):c.3911T>C (p.Met1304Thr)	CEP290 (M1304T)	Single nucleotide variant (missense variant)	Meckel-Gruber syndrome +4 more	GUncertain significance
Select item 802876	NM_025114.4(CEP290):c.4704G>C (p.Glu1568Asp)	CEP290 (E1568D)	Single nucleotide variant (missense variant)	Joubert syndrome 1	GLikely pathogenic
Select item 802875	NM_025114.4(CEP290):c.6271-8T>G	CEP290, LOC129390514	Single nucleotide variant (intron variant)	Joubert syndrome 1 +5 more	GPathogenic/Likely pathogenic
Select item 802424	NM_153704.6(TMEM67):c.2485C>G (p.Gln829Glu)	TMEM67 (Q748E +1 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 1	GUncertain significance
Select item 802423	NM_153704.6(TMEM67):c.2201_2208dup (p.Ala737fs)	TMEM67 (A737fs +1 more)	Duplication (frameshift variant +1 more)	Joubert syndrome 1	GPathogenic
Select item 802273	NM_001134831.2(AHI1):c.1779G>T (p.Gln593His)	AHI1 (Q593H)	Single nucleotide variant (missense variant)	Joubert syndrome 1	GLikely pathogenic
Select item 802272	NM_001134831.2(AHI1):c.1829G>C (p.Arg610Pro)	AHI1 (R610P)	Single nucleotide variant (missense variant)	Joubert syndrome 3 +3 more	GUncertain significance
Select item 802271	NM_001134831.2(AHI1):c.2742del (p.Leu915fs)	AHI1 (L915fs)	Deletion (frameshift variant)	Joubert syndrome 1 +1 more	GPathogenic
Select item 802118	NM_001384732.1(CPLANE1):c.1394del (p.Leu465fs)	CPLANE1 (L465fs)	Deletion (frameshift variant)	Joubert syndrome 1 +2 more	GPathogenic
Select item 802117	NM_001384732.1(CPLANE1):c.2898del (p.Pro968fs)	CPLANE1 (P968fs)	Deletion (frameshift variant)	Joubert syndrome 1 +2 more	GPathogenic
Select item 802116	NM_001384732.1(CPLANE1):c.3104G>C (p.Gly1035Ala)	CPLANE1 (G1035A)	Single nucleotide variant (missense variant)	Joubert syndrome 1 +1 more	GConflicting classifications of pathogenicity
Select item 800892	NM_019892.6(INPP5E):c.1388C>T (p.Ala463Val)	INPP5E (A462V +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 748834	NM_019892.6(INPP5E):c.1479G>A (p.Leu493=)	INPP5E	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 705140	NM_019892.6(INPP5E):c.1530C>T (p.Leu510=)	INPP5E	Single nucleotide variant (synonymous variant)	Familial aplasia of the vermis +2 more	GConflicting classifications of pathogenicity
Select item 700298	NM_019892.6(INPP5E):c.304G>T (p.Asp102Tyr)	INPP5E (D102Y)	Single nucleotide variant (missense variant)	Familial aplasia of the vermis +1 more	GConflicting classifications of pathogenicity
Select item 695159	NM_001174150.2(ARL13B):c.486+22del	ARL13B	Deletion (intron variant)	Joubert syndrome 8 +1 more	GBenign
Select item 695128	NM_001174150.2(ARL13B):c.486+22dup	ARL13B	Duplication (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 659046	NM_025114.4(CEP290):c.5777G>C (p.Arg1926Pro)	CEP290 (R1926P)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 14 +9 more	GPathogenic/Likely pathogenic
Select item 638504	NM_001134831.2(AHI1):c.2623+1G>T	AHI1	Single nucleotide variant (splice donor variant)	Joubert syndrome 1 +2 more	GPathogenic
Select item 635031	NM_019892.6(INPP5E):c.1763A>G (p.Tyr588Cys)	INPP5E (Y588C +1 more)	Single nucleotide variant (missense variant)	Joubert syndrome 1	GUncertain significance
Select item 461748	NM_019892.6(INPP5E):c.623C>T (p.Thr208Ile)	INPP5E (T208I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 424729	NM_001080522.2(CC2D2A):c.[4093_4095delGAA];[4595_4596delCT]			Joubert syndrome 9	GLikely pathogenic
Select item 415749	NM_019892.6(INPP5E):c.813-5C>G	INPP5E	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 411851	NM_001378615.1(CC2D2A):c.1267C>T (p.Arg423Ter)	CC2D2A (R423* +1 more)	Single nucleotide variant (nonsense)	Familial aplasia of the vermis +2 more	GPathogenic
Select item 392297	NM_001384732.1(CPLANE1):c.1270C>T (p.Arg424Ter)	CPLANE1 (R424*)	Single nucleotide variant (nonsense)	Joubert syndrome 17 +2 more	GPathogenic/Likely pathogenic
Select item 377455	NM_001134831.2(AHI1):c.3196C>T (p.Arg1066Ter)	AHI1 (R1066*)	Single nucleotide variant (nonsense)	Retinal dystrophy +5 more	GConflicting classifications of pathogenicity
Select item 375472	NM_019892.6(INPP5E):c.1303C>T (p.Arg435Trp)	INPP5E (R435W +1 more)	Single nucleotide variant (missense variant)	Joubert syndrome 1 +1 more	GPathogenic
Select item 375382	NM_133496.5(SLC30A7):c.490_491delinsAG (p.His164Ser)	SLC30A7 (H164S)	Indel (missense variant)	Joubert syndrome 1	GPathogenic
Select item 375381	NM_182924.4(MICALL2):c.851C>G (p.Pro284Arg)	MICALL2 (P284R)	Single nucleotide variant (missense variant)	Joubert syndrome 1	GPathogenic
Select item 365899	NM_019892.6(INPP5E):c.-347G>A	INPP5E	Single nucleotide variant (5 prime UTR variant)	Joubert syndrome 1	GUncertain significance
Select item 365898	NM_019892.6(INPP5E):c.-343T>C	INPP5E	Single nucleotide variant (5 prime UTR variant)	Joubert syndrome 1	GUncertain significance
Select item 365897	NM_019892.6(INPP5E):c.-271C>T	INPP5E	Single nucleotide variant (5 prime UTR variant)	Joubert syndrome 1	GUncertain significance
Select item 365896	NM_019892.6(INPP5E):c.-239C>G	INPP5E	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GUncertain significance
Select item 365895	NM_019892.6(INPP5E):c.-174G>A	INPP5E	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign/Likely benign
Select item 365894	NM_019892.6(INPP5E):c.21T>C (p.Asn7=)	INPP5E	Single nucleotide variant (synonymous variant)	Joubert syndrome 1 +2 more	GConflicting classifications of pathogenicity
Select item 365893	NM_019892.6(INPP5E):c.136G>A (p.Glu46Lys)	INPP5E (E46K)	Single nucleotide variant (missense variant)	Joubert syndrome 1	GUncertain significance
Select item 365892	NM_019892.6(INPP5E):c.547C>T (p.Pro183Ser)	INPP5E (P183S)	Single nucleotide variant (missense variant)	Joubert syndrome 1 +2 more	GUncertain significance
Select item 365890	NM_019892.6(INPP5E):c.813-8C>T	INPP5E	Single nucleotide variant (intron variant)	Familial aplasia of the vermis +2 more	GConflicting classifications of pathogenicity
Select item 365889	NM_019892.6(INPP5E):c.1104C>T (p.His368=)	INPP5E	Single nucleotide variant (synonymous variant)	Joubert syndrome 1 +1 more	GConflicting classifications of pathogenicity
Select item 365888	NM_019892.6(INPP5E):c.1136G>A (p.Arg379Lys)	INPP5E (R379K)	Single nucleotide variant (missense variant)	Familial aplasia of the vermis +1 more	GConflicting classifications of pathogenicity
Select item 365886	NM_019892.6(INPP5E):c.1279+14T>C	INPP5E	Single nucleotide variant (intron variant)	Familial aplasia of the vermis +1 more	GConflicting classifications of pathogenicity
Select item 365885	NM_019892.6(INPP5E):c.1325C>T (p.Thr442Ile)	INPP5E (T442I +1 more)	Single nucleotide variant (missense variant)	Joubert syndrome 1 +3 more	GUncertain significance
Select item 365884	NM_019892.6(INPP5E):c.1380C>T (p.Ser460=)	INPP5E	Single nucleotide variant (synonymous variant)	Familial aplasia of the vermis +2 more	GConflicting classifications of pathogenicity
Select item 365883	NM_019892.6(INPP5E):c.1384G>A (p.Ala462Thr)	INPP5E (A462T +1 more)	Single nucleotide variant (missense variant)	Joubert syndrome 1 +1 more	GUncertain significance
Select item 365882	NM_019892.6(INPP5E):c.1388-5C>T	INPP5E	Single nucleotide variant (intron variant)	Joubert syndrome 1 +1 more	GConflicting classifications of pathogenicity
Select item 365881	NM_019892.6(INPP5E):c.1407C>T (p.Phe469=)	INPP5E	Single nucleotide variant (synonymous variant)	Joubert syndrome 1 +1 more	GConflicting classifications of pathogenicity
Select item 365880	NM_019892.6(INPP5E):c.1506G>A (p.Pro502=)	INPP5E	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 365879	NM_019892.6(INPP5E):c.1730C>G (p.Pro577Arg)	INPP5E (P577R +1 more)	Single nucleotide variant (missense variant)	Joubert syndrome 1 +2 more	GConflicting classifications of pathogenicity
Select item 365878	NM_019892.6(INPP5E):c.1743G>A (p.Thr581=)	INPP5E	Single nucleotide variant (synonymous variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 365877	NM_019892.6(INPP5E):c.*98G>A	INPP5E	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign/Likely benign
Select item 365876	NM_019892.6(INPP5E):c.*235A>G	INPP5E	Single nucleotide variant (3 prime UTR variant)	Joubert syndrome 1	GUncertain significance
Select item 365875	NM_019892.6(INPP5E):c.*328T>C	INPP5E	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign

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