"Illumina Laboratory Services, Illumina"[submitter] AND "INPP5E"[gene] - ClinVar

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Items: 78

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 365866	NM_019892.6(INPP5E):c.*926T>C	INPP5E	Single nucleotide variant (3 prime UTR variant)	Joubert syndrome 1	GLikely benign
Select item 365867	NM_019892.6(INPP5E):c.*913T>C	INPP5E	Single nucleotide variant (3 prime UTR variant)	Joubert syndrome 1	GUncertain significance
Select item 365868	NM_019892.6(INPP5E):c.*816A>G	INPP5E	Single nucleotide variant (3 prime UTR variant)	Joubert syndrome 1	GBenign
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 365869	NM_019892.6(INPP5E):c.*763G>C	INPP5E	Single nucleotide variant (3 prime UTR variant)	Joubert syndrome 1	GUncertain significance
Select item 365870	NM_019892.6(INPP5E):c.*747T>C	INPP5E	Single nucleotide variant (3 prime UTR variant)	Joubert syndrome 1	GUncertain significance
Select item 365871	NM_019892.6(INPP5E):c.*727C>T	INPP5E	Single nucleotide variant (3 prime UTR variant)	Joubert syndrome 1	GUncertain significance
Select item 365872	NM_019892.6(INPP5E):c.*721C>T	INPP5E	Single nucleotide variant (3 prime UTR variant)	Joubert syndrome 1	GUncertain significance
Select item 365873	NM_019892.6(INPP5E):c.*703A>G	INPP5E	Single nucleotide variant (3 prime UTR variant)	Joubert syndrome 1	GBenign
Select item 365874	NM_019892.6(INPP5E):c.*630G>A	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 914906	NM_019892.6(INPP5E):c.*559C>T	INPP5E	Single nucleotide variant (3 prime UTR variant)	Joubert syndrome 1	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 365875	NM_019892.6(INPP5E):c.*328T>C	INPP5E	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
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 912947	NM_019892.6(INPP5E):c.*213C>T	INPP5E	Single nucleotide variant (3 prime UTR variant)	Joubert syndrome 1	GUncertain significance
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 912948	NM_019892.6(INPP5E):c.*13G>A	INPP5E	Single nucleotide variant (3 prime UTR variant)	Joubert syndrome 1	GUncertain significance
Select item 129272	NM_019892.6(INPP5E):c.1794G>T (p.Gly598=)	INPP5E	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 129271	NM_019892.6(INPP5E):c.1791G>C (p.Pro597=)	INPP5E	Single nucleotide variant (synonymous variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 129270	NM_019892.6(INPP5E):c.1791G>A (p.Pro597=)	INPP5E	Single nucleotide variant (synonymous variant)	MORM syndrome +3 more	GBenign
Select item 365878	NM_019892.6(INPP5E):c.1743G>A (p.Thr581=)	INPP5E	Single nucleotide variant (synonymous variant)	Joubert syndrome 1 +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)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 913311	NM_019892.6(INPP5E):c.1686C>T (p.Ser562=)	INPP5E	Single nucleotide variant (synonymous variant)	Familial aplasia of the vermis +1 more	GConflicting classifications of pathogenicity
Select item 261199	NM_019892.6(INPP5E):c.1550-14C>T	INPP5E	Single nucleotide variant (intron variant)	INPP5E-related condition +3 more	GBenign
Select item 913312	NM_019892.6(INPP5E):c.1547A>G (p.Lys516Arg)	INPP5E (K515R +1 more)	Single nucleotide variant (missense variant)	Familial aplasia of the vermis +1 more	GUncertain significance
Select item 705140	NM_019892.6(INPP5E):c.1530C>T (p.Leu510=)	INPP5E	Single nucleotide variant (synonymous variant)	Familial aplasia of the vermis +1 more	GConflicting classifications of pathogenicity
Select item 129268	NM_019892.6(INPP5E):c.1521C>T (p.His507=)	INPP5E	Single nucleotide variant (synonymous variant)	MORM syndrome +3 more	GBenign
Select item 365880	NM_019892.6(INPP5E):c.1506G>A (p.Pro502=)	INPP5E	Single nucleotide variant (synonymous variant)	Familial aplasia of the vermis +2 more	GConflicting classifications of pathogenicity
Select item 748834	NM_019892.6(INPP5E):c.1479G>A (p.Leu493=)	INPP5E	Single nucleotide variant (synonymous variant)	Joubert syndrome 1 +1 more	GConflicting classifications of pathogenicity
Select item 914435	NM_019892.6(INPP5E):c.1453G>A (p.Gly485Arg)	INPP5E (G485R +1 more)	Single nucleotide variant (missense variant)	INPP5E-related condition +2 more	GUncertain significance
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 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 365882	NM_019892.6(INPP5E):c.1388-5C>T	INPP5E	Single nucleotide variant (intron variant)	Familial aplasia of the vermis +2 more	GConflicting classifications of pathogenicity
Select item 261195	NM_019892.6(INPP5E):c.1388-13C>T	INPP5E	Single nucleotide variant (intron variant)	Familial aplasia of the vermis +2 more	GBenign
Select item 365883	NM_019892.6(INPP5E):c.1384G>A (p.Ala462Thr)	INPP5E (A462T +1 more)	Single nucleotide variant (missense variant)	INPP5E-related condition +2 more	GUncertain significance
Select item 365884	NM_019892.6(INPP5E):c.1380C>T (p.Ser460=)	INPP5E	Single nucleotide variant (synonymous variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 129267	NM_019892.6(INPP5E):c.1359C>T (p.Pro453=)	INPP5E	Single nucleotide variant (synonymous variant)	Familial aplasia of the vermis +2 more	GBenign
Select item 365885	NM_019892.6(INPP5E):c.1325C>T (p.Thr442Ile)	INPP5E (T442I +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 129266	NM_019892.6(INPP5E):c.1284T>C (p.Gly428=)	INPP5E	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign
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 129265	NM_019892.6(INPP5E):c.1248T>C (p.Thr416=)	INPP5E	Single nucleotide variant (synonymous variant)	MORM syndrome +4 more	GBenign
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 211183	NM_019892.6(INPP5E):c.1191C>T (p.Ile397=)	INPP5E	Single nucleotide variant (synonymous variant)	INPP5E-related condition +4 more	GConflicting classifications of pathogenicity
Select item 215526	NM_019892.6(INPP5E):c.1159+7_1159+8insGGTGGGCGTGGCTGGAGG	INPP5E	Insertion (splice donor variant)	Familial aplasia of the vermis +2 more	GBenign/Likely benign
Select item 129264	NM_019892.6(INPP5E):c.1159+8C>T	INPP5E	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
Select item 365888	NM_019892.6(INPP5E):c.1136G>A (p.Arg379Lys)	INPP5E (R379K)	Single nucleotide variant (missense variant)	Joubert syndrome 1 +1 more	GConflicting classifications of pathogenicity
Select item 365889	NM_019892.6(INPP5E):c.1104C>T (p.His368=)	INPP5E	Single nucleotide variant (synonymous variant)	Familial aplasia of the vermis +2 more	GConflicting classifications of pathogenicity
Select item 912998	NM_019892.6(INPP5E):c.1074G>A (p.Pro358=)	INPP5E	Single nucleotide variant (synonymous variant)	Joubert syndrome 1 +1 more	GConflicting classifications of pathogenicity
Select item 912999	NM_019892.6(INPP5E):c.1034+8G>A	INPP5E	Single nucleotide variant (intron variant)	INPP5E-related condition +2 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 129278	NM_019892.6(INPP5E):c.981C>T (p.Ala327=)	INPP5E	Single nucleotide variant (synonymous variant)	Joubert syndrome 1 +3 more	GBenign
Select item 129277	NM_019892.6(INPP5E):c.972A>G (p.Pro324=)	INPP5E	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 211185	NM_019892.6(INPP5E):c.875G>A (p.Arg292His)	INPP5E (R292H)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
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 365890	NM_019892.6(INPP5E):c.813-8C>T	INPP5E	Single nucleotide variant (intron variant)	Joubert syndrome 1 +2 more	GConflicting classifications of pathogenicity
Select item 365891	NM_019892.6(INPP5E):c.812+3AGGG[3]	INPP5E	Microsatellite (intron variant)	Familial aplasia of the vermis	GUncertain significance
Select item 261203	NM_019892.6(INPP5E):c.812+7_812+10del	INPP5E	Microsatellite (intron variant)	not provided +4 more	GBenign
Select item 261202	NM_019892.6(INPP5E):c.791G>A (p.Arg264His)	INPP5E (R264H)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign
Select item 129276	NM_019892.6(INPP5E):c.636C>A (p.Val212=)	INPP5E	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 129275	NM_019892.6(INPP5E):c.603C>G (p.Ile201Met)	INPP5E (I201M)	Single nucleotide variant (missense variant)	Familial aplasia of the vermis +2 more	GBenign/Likely benign
Select item 913363	NM_019892.6(INPP5E):c.580C>G (p.Pro194Ala)	INPP5E (P194A)	Single nucleotide variant (missense variant)	Familial aplasia of the vermis +1 more	GUncertain significance
Select item 365892	NM_019892.6(INPP5E):c.547C>T (p.Pro183Ser)	INPP5E (P183S)	Single nucleotide variant (missense variant)	INPP5E-related condition +2 more	GUncertain significance
Select item 129274	NM_019892.6(INPP5E):c.531C>A (p.Ala177=)	INPP5E	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 837758	NM_019892.6(INPP5E):c.469G>T (p.Gly157Trp)	INPP5E (G157W)	Single nucleotide variant (missense variant)	not provided +3 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 365893	NM_019892.6(INPP5E):c.136G>A (p.Glu46Lys)	INPP5E (E46K)	Single nucleotide variant (missense variant)	Joubert syndrome 1	GUncertain significance
Select item 129273	NM_019892.6(INPP5E):c.33C>G (p.Ser11=)	INPP5E	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 365894	NM_019892.6(INPP5E):c.21T>C (p.Asn7=)	INPP5E	Single nucleotide variant (synonymous variant)	Joubert syndrome 1 +3 more	GConflicting classifications of pathogenicity
Select item 261187	NM_019892.6(INPP5E):c.-31G>C	INPP5E	Single nucleotide variant (5 prime UTR variant)	INPP5E-related condition +2 more	GBenign/Likely benign
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 914486	NM_019892.6(INPP5E):c.-149C>T	INPP5E	Single nucleotide variant (5 prime UTR variant)	Joubert syndrome 1	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 914994	NM_019892.6(INPP5E):c.-175C>T	INPP5E	Single nucleotide variant (5 prime UTR variant)	INPP5E-related condition +1 more	GConflicting classifications of pathogenicity
Select item 365896	NM_019892.6(INPP5E):c.-239C>G	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 365898	NM_019892.6(INPP5E):c.-343T>C	INPP5E	Single nucleotide variant (5 prime UTR variant)	Joubert syndrome 1	GUncertain significance
Select item 365899	NM_019892.6(INPP5E):c.-347G>A	INPP5E	Single nucleotide variant (5 prime UTR variant)	Joubert syndrome 1	GUncertain significance

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Items: 78