INPP5E[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC124210612, LOC124210613 +3786 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	LOC121331326, LOC121331327 +3785 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC126860737, LOC126860738 +3786 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	LOC110121197, LOC110121234 +3786 more	Copy number gain	See cases	GPathogenic
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC121331342, LOC121331343 +3786 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	LOC113839542, LOC113839543 +3786 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	LOC130002189, LOC130002190 +3786 more	Copy number gain	See cases	GPathogenic
Select item 145579	GRCh38/hg38 9q33.2-34.3(chr9:121073102-138179445)x3	ABCA2, ABL1 +1272 more	Copy number gain	See cases	GPathogenic
Select item 57324	GRCh38/hg38 9q33.2-34.3(chr9:121112395-138075224)x3	ABCA2, ABL1 +1268 more	Copy number gain	See cases	GPathogenic
Select item 57353	GRCh38/hg38 9q33.2-34.3(chr9:122792658-138124532)x3	LOC130003132, LOC130003133 +1210 more	Copy number gain	See cases	GPathogenic
Select item 145575	GRCh38/hg38 9q34.11-34.3(chr9:129068560-138179445)x3	MED27, MIGA2 +789 more	Copy number gain	See cases	GPathogenic
Select item 59908	GRCh38/hg38 9q34.11-34.3(chr9:129068560-136495351)x3	ABL1, ABO +536 more	Copy number gain	See cases	GPathogenic
Select item 144296	GRCh38/hg38 9q34.11-34.3(chr9:130513207-138124532)x3	LOC130003057, LOC130003058 +656 more	Copy number gain	See cases	GPathogenic
Select item 3238673	GRCh38/hg38 9q34.13-34.3(chr9:137552409-137879159)	LOC124375238, LOC124375239 +569 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238671	GRCh38/hg38 9q34.13-34.3(chr9:137552082-137728529)	GBGT1, GLT6D1 +552 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238668	GRCh38/hg38 9q34.13-34.3(chr9:137552409-138052113)	ABCA2, ABO +572 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238667	GRCh38/hg38 9q34.13-34.3(chr9:137552409-138059181)	LOC130002921, LOC130002922 +572 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238666	GRCh38/hg38 9q34.13-34.3(chr9:136926151-138059181)	LOC121366034, LOC121366035 +572 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238664	GRCh38/hg38 9q34.13-34.3(chr9:137590213-137817525)	SARDH, SEC16A +568 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238663	GRCh38/hg38 9q34.13-34.3(chr9:137590213-138052188)	ABCA2, ABO +572 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 154569	GRCh38/hg38 9q34.13-34.3(chr9:132386553-138059695)x3	LOC130003026, LOC130003027 +530 more	Copy number gain	See cases	GPathogenic
Select item 147626	GRCh38/hg38 9q34.13-34.3(chr9:132986903-138114463)x3	ABCA2, ABO +510 more	Copy number gain	See cases	GPathogenic
Select item 148759	GRCh38/hg38 9q34.2-34.3(chr9:133504071-138159073)x3	LOC129390118, LOC130002920 +439 more	Copy number gain	See cases	GPathogenic
Select item 154888	GRCh38/hg38 9q34.2-34.3(chr9:133918071-138159073)x3	INPP5E, KCNT1 +417 more	Copy number gain	See cases	GPathogenic
Select item 151031	GRCh38/hg38 9q34.2-34.3(chr9:133996227-138124524)x3	LOC130003077, LOC130003078 +405 more	Copy number gain	See cases	GPathogenic
Select item 59943	GRCh38/hg38 9q34.2-34.3(chr9:134174698-138138735)x3	ABCA2, AGPAT2 +392 more	Copy number gain	See cases	GPathogenic
Select item 3238701	GRCh38/hg38 9q34.2-34.3(chr9:134288333-138155727)	ABCA2, AGPAT2 +388 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 59136	GRCh38/hg38 9q34.2-34.3(chr9:134428674-138154922)x1	UAP1L1, UBAC1 +371 more	Copy number loss	See cases	GPathogenic
Select item 3238689	GRCh38/hg38 9q34.3(chr9:134642187-138121999)	ABCA2, AGPAT2 +367 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 2203758	GRCh38/hg38 9q34.3(chr9:134962336-137240181)x1	LOC124375251, LOC126860788 +265 more	Copy number loss	See cases	GPathogenic
Select item 3238697	GRCh38/hg38 9q34.3(chr9:135008333-138199729)	ABCA2, AGPAT2 +347 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 145568	GRCh38/hg38 9q34.3(chr9:135164984-136437047)x3	CAMSAP1, CARD9 +86 more	Copy number gain	See cases	GUncertain significance
Select item 3238659	GRCh38/hg38 9q34.3(chr9:135182209-138129711)	UBAC1, ZMYND19 +346 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238707	GRCh38/hg38 9q34.3(chr9:135203306-138100471)	LOC130003123, LOC130003124 +345 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238694	GRCh38/hg38 9q34.3(chr9:135204722-138394717)	EHMT1, ENTPD2 +347 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238725	GRCh38/hg38 9q34.3(chr9:135338745-138124196)	ABCA2, AGPAT2 +344 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 59137	GRCh38/hg38 9q34.3(chr9:135452016-137613738)x1	ABCA2, AGPAT2 +311 more	Copy number loss	See cases	GPathogenic
Select item 155327	GRCh38/hg38 9q34.3(chr9:135704780-138125937)x4	QSOX2, RABL6 +324 more	Copy number gain	See cases	GLikely pathogenic
Select item 3238708	GRCh38/hg38 9q34.3(chr9:135791488-138262981)	ABCA2, AGPAT2 +325 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238669	GRCh38/hg38 9q34.3(chr9:135954288-138125938)	LOC130003073, LOC130003074 +310 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238658	GRCh38/hg38 9q34.3(chr9:135969078-138104469)	LOC126860801, LOC129390118 +309 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238700	GRCh38/hg38 9q34.3(chr9:136032451-138125938)	LOC130003044, LOC130003045 +309 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 59139	GRCh38/hg38 9q34.3(chr9:136323542-136565950)x1	C9orf163, CARD9 +46 more	Copy number loss	See cases	GPathogenic
Select item 161082	GRCh38/hg38 9q34.3(chr9:136323974-138014606)x1	LOC130003070, LOC130003071 +283 more	Copy number loss	See cases	GPathogenic
Select item 57416	GRCh38/hg38 9q34.3(chr9:136323974-138124532)x1	ABCA2, AGPAT2 +284 more	Copy number loss	See cases	GPathogenic
Select item 34625	GRCh38/hg38 9q34.3(chr9:136323974-138014606)x1	ABCA2, AGPAT2 +283 more	Copy number loss	See cases	GPathogenic
Select item 148428	GRCh38/hg38 9q34.3(chr9:136405220-136608638)x1	C9orf163, ENTR1 +31 more	Copy number loss	See cases	GPathogenic
Select item 365866	NM_019892.6(INPP5E):c.*926T>C	INPP5E	Single nucleotide variant (3 prime UTR variant)	Joubert syndrome 1 +1 more	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 +1 more	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)	not provided +1 more	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 3042809	NM_019892.6(INPP5E):c.*5T>G	INPP5E	Single nucleotide variant (3 prime UTR variant)	INPP5E-related disorder	GLikely benign
Select item 1628072	NM_019892.6(INPP5E):c.1926C>T (p.Ser642=)	INPP5E	Single nucleotide variant (synonymous variant)	Familial aplasia of the vermis	GLikely benign
Select item 581255	NM_019892.6(INPP5E):c.1922del (p.Cys641fs)	INPP5E (C640fs +1 more)	Deletion (frameshift variant)	Familial aplasia of the vermis	GPathogenic
Select item 216708	NM_019892.6(INPP5E):c.1919T>C (p.Ile640Thr)	INPP5E (I640T +1 more)	Single nucleotide variant (missense variant)	Familial aplasia of the vermis	GUncertain significance
Select item 2307004	NM_019892.6(INPP5E):c.1910C>G (p.Ser637Cys)	INPP5E (S637C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1683371	NM_019892.6(INPP5E):c.1905_1906del (p.Asn636fs)	INPP5E (N635fs +1 more)	Deletion (frameshift variant)	not specified	GUncertain significance
Select item 3344899	NM_019892.6(INPP5E):c.1900_1901del (p.Gln635fs)	INPP5E (Q634fs +1 more)	Microsatellite (frameshift variant)	INPP5E-related disorder	GUncertain significance
Select item 217658	NM_019892.6(INPP5E):c.1897_1898del (p.Gln633fs)	INPP5E (Q632fs +1 more)	Deletion (frameshift variant)	Familial aplasia of the vermis	GPathogenic
Select item 1982566	NM_019892.6(INPP5E):c.1897C>G (p.Gln633Glu)	INPP5E (Q633E +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
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 3022059	NM_019892.6(INPP5E):c.1894C>T (p.Leu632=)	INPP5E	Single nucleotide variant (synonymous variant)	Familial aplasia of the vermis	GLikely benign
Select item 1101186	NM_019892.6(INPP5E):c.1893A>C (p.Ala631=)	INPP5E	Single nucleotide variant (synonymous variant)	Familial aplasia of the vermis	GLikely benign
Select item 2701602	NM_019892.6(INPP5E):c.1888C>T (p.Gln630Ter)	INPP5E (Q630* +1 more)	Single nucleotide variant (nonsense)	Familial aplasia of the vermis	GPathogenic
Select item 2086728	NM_019892.6(INPP5E):c.1887G>A (p.Gln629=)	INPP5E	Single nucleotide variant (synonymous variant)	Familial aplasia of the vermis	GLikely benign
Select item 1636635	NM_019892.6(INPP5E):c.1881G>A (p.Gln627=)	INPP5E	Single nucleotide variant (synonymous variant)	Familial aplasia of the vermis	GLikely benign
Select item 3350197	NM_019892.6(INPP5E):c.1879C>G (p.Gln627Glu)	INPP5E (Q626E +1 more)	Single nucleotide variant (missense variant)	INPP5E-related disorder	GUncertain significance
Select item 396	NM_019892.6(INPP5E):c.1879C>T (p.Gln627Ter)	INPP5E (Q627* +1 more)	Single nucleotide variant (nonsense)	MORM syndrome	GPathogenic
Select item 385900	NM_019892.6(INPP5E):c.1875G>A (p.Glu625=)	INPP5E	Single nucleotide variant (synonymous variant)	Familial aplasia of the vermis +1 more	GBenign/Likely benign
Select item 2068535	NM_019892.6(INPP5E):c.1869G>A (p.Ser623=)	INPP5E	Single nucleotide variant (synonymous variant)	Familial aplasia of the vermis	GLikely benign
Select item 1024075	NM_019892.6(INPP5E):c.1868C>T (p.Ser623Leu)	INPP5E (S622L +1 more)	Single nucleotide variant (missense variant)	Familial aplasia of the vermis	GUncertain significance
Select item 1985310	NM_019892.6(INPP5E):c.1866T>A (p.Ile622=)	INPP5E	Single nucleotide variant (synonymous variant)	Familial aplasia of the vermis	GLikely benign
Select item 836938	NM_019892.6(INPP5E):c.1862G>T (p.Arg621Leu)	INPP5E (R621L +1 more)	Single nucleotide variant (missense variant)	Familial aplasia of the vermis	GLikely pathogenic
Select item 812336	NM_019892.6(INPP5E):c.1862G>A (p.Arg621Gln)	INPP5E (R620Q +1 more)	Single nucleotide variant (missense variant)	Familial aplasia of the vermis +2 more	GPathogenic/Likely pathogenic
Select item 426904	NM_019892.6(INPP5E):c.1861C>T (p.Arg621Trp)	INPP5E (R621W +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
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 1608626	NM_019892.6(INPP5E):c.1857A>G (p.Lys619=)	INPP5E	Single nucleotide variant (synonymous variant)	Familial aplasia of the vermis	GLikely benign
Select item 1061390	NM_019892.6(INPP5E):c.1849G>A (p.Gly617Arg)	INPP5E (G616R +1 more)	Single nucleotide variant (missense variant)	Familial aplasia of the vermis	GUncertain significance
Select item 2445960	NM_019892.6(INPP5E):c.1844_1846delinsGAA (p.Leu615_Leu616delinsTer)	INPP5E	Indel (nonsense)	Joubert syndrome and related disorders	GLikely pathogenic
Select item 575568	NM_019892.6(INPP5E):c.1846C>A (p.Leu616Ile)	INPP5E (L616I +1 more)	Single nucleotide variant (missense variant)	Familial aplasia of the vermis	GUncertain significance
Select item 568818	NM_019892.6(INPP5E):c.1844T>G (p.Leu615Ter)	INPP5E (L615* +1 more)	Single nucleotide variant (nonsense)	Familial aplasia of the vermis	GPathogenic
Select item 3345854	NM_019892.6(INPP5E):c.1842C>T (p.Tyr614=)	INPP5E	Single nucleotide variant (synonymous variant)	INPP5E-related disorder	GUncertain significance
Select item 3026814	NM_019892.6(INPP5E):c.1837C>T (p.Leu613=)	INPP5E	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3344184	NM_019892.6(INPP5E):c.1831A>G (p.Arg611Gly)	INPP5E (R610G +1 more)	Single nucleotide variant (missense variant)	INPP5E-related disorder	GUncertain significance

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