"Genetic Services Laboratory, University of Chicago"[submitter] AND "I - ClinVar

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Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 435500	NM_019892.6(INPP5E):c.1857_1858del (p.Arg620fs)	INPP5E (R619fs +1 more)	Deletion (frameshift variant)	not specified	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)	Joubert syndrome 1 +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 129269	NM_019892.6(INPP5E):c.1770C>T (p.Leu590=)	INPP5E	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 211184	NM_019892.6(INPP5E):c.1732G>A (p.Gly578Arg)	INPP5E (G578R +1 more)	Single nucleotide variant (missense variant)	INPP5E-related disorder +2 more	GUncertain significance
Select item 697645	NM_019892.6(INPP5E):c.1623C>T (p.Asp541=)	INPP5E	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1063364	NM_019892.6(INPP5E):c.1544G>A (p.Arg515Gln)	INPP5E (R514Q +1 more)	Single nucleotide variant (missense variant)	Familial aplasia of the vermis	GUncertain significance
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 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 261193	NM_019892.6(INPP5E):c.1299G>A (p.Ala433=)	INPP5E	Single nucleotide variant (synonymous variant)	Familial aplasia of the vermis +3 more	GBenign/Likely benign
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 129265	NM_019892.6(INPP5E):c.1248T>C (p.Thr416=)	INPP5E	Single nucleotide variant (synonymous variant)	MORM syndrome +4 more	GBenign
Select item 211183	NM_019892.6(INPP5E):c.1191C>T (p.Ile397=)	INPP5E	Single nucleotide variant (synonymous variant)	not specified +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 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)	Joubert syndrome 1 +4 more	GConflicting classifications of pathogenicity
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 461748	NM_019892.6(INPP5E):c.623C>T (p.Thr208Ile)	INPP5E (T208I)	Single nucleotide variant (missense variant)	Joubert syndrome 1 +4 more	GConflicting classifications of pathogenicity
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 129263	NM_019892.6(INPP5E):c.572C>G (p.Pro191Arg)	INPP5E (P191R)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
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 129273	NM_019892.6(INPP5E):c.33C>G (p.Ser11=)	INPP5E	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign

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Items: 25