INPP5A[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148679	GRCh38/hg38 10q24.31-26.3(chr10:100600492-133622588)x3	GSTO1, GSTO2 +1097 more	Copy number gain	See cases	GPathogenic
Select item 144206	GRCh38/hg38 10q25.1-26.3(chr10:108102587-133620674)x3	LOC126861107, LOC128598885 +802 more	Copy number gain	See cases	GPathogenic
Select item 57507	GRCh38/hg38 10q25.2-26.3(chr10:111313099-133620674)x3	ABLIM1, ABRAXAS2 +679 more	Copy number gain	See cases	GPathogenic
Select item 59728	GRCh38/hg38 10q26.11-26.3(chr10:117866565-133554210)x3	ABRAXAS2, ACADSB +514 more	Copy number gain	See cases	GPathogenic
Select item 153718	GRCh38/hg38 10q26.11-26.3(chr10:119707856-133613639)x3	LOC130004884, LOC130004885 +438 more	Copy number gain	See cases	GPathogenic
Select item 57403	GRCh38/hg38 10q26.12-26.3(chr10:120454430-133620674)x1	LOC130004881, LOC130004882 +418 more	Copy number loss	See cases	GPathogenic
Select item 150499	GRCh38/hg38 10q26.12-26.3(chr10:120970558-133622588)x1	LOC130005014, LOC130005015 +409 more	Copy number loss	See cases	GPathogenic
Select item 154374	GRCh38/hg38 10q26.13-26.3(chr10:121588992-133620674)x1	FUOM, GLRX3 +399 more	Copy number loss	See cases	GPathogenic
Select item 154670	GRCh38/hg38 10q26.13-26.3(chr10:121918547-133620674)x1	LOC130004911, LOC130004912 +395 more	Copy number loss	See cases	GPathogenic
Select item 57376	GRCh38/hg38 10q26.13-26.3(chr10:122265252-133620674)x1	ABRAXAS2, ACADSB +383 more	Copy number loss	See cases	GPathogenic
Select item 149417	GRCh38/hg38 10q26.13-26.3(chr10:122881207-133620609)x1	LOC130004994, LOC130004995 +361 more	Copy number loss	See cases	GPathogenic
Select item 57447	GRCh38/hg38 10q26.13-26.3(chr10:123307835-133620674)x1	ABRAXAS2, ADAM12 +331 more	Copy number loss	See cases	GPathogenic
Select item 155477	GRCh38/hg38 10q26.13-26.3(chr10:123576393-133613639)x1	ABRAXAS2, ADAM12 +318 more	Copy number loss	See cases	GPathogenic
Select item 58822	GRCh38/hg38 10q26.13-26.3(chr10:123580320-133558988)x1	ABRAXAS2, ADAM12 +318 more	Copy number loss	See cases	GPathogenic
Select item 155556	GRCh38/hg38 10q26.13-26.3(chr10:123986772-133613639)x1	ABRAXAS2, ADAM12 +311 more	Copy number loss	See cases	GPathogenic
Select item 146789	GRCh38/hg38 10q26.13-26.3(chr10:124473108-133620609)x1	ABRAXAS2, ADAM12 +297 more	Copy number loss	See cases	GPathogenic
Select item 148580	GRCh38/hg38 10q26.13-26.3(chr10:124834858-133622588)x1	LOC130005026, LOC130005027 +257 more	Copy number loss	See cases	GPathogenic
Select item 150776	GRCh38/hg38 10q26.13-26.3(chr10:125021995-133620609)x1	LOC126861090, LOC126861091 +250 more	Copy number loss	See cases	GPathogenic
Select item 152830	GRCh38/hg38 10q26.13-26.3(chr10:125452905-133785874)x3	ADAM12, ADAM8 +241 more	Copy number gain	See cases	GPathogenic
Select item 144259	GRCh38/hg38 10q26.13-26.3(chr10:125657472-133620674)x1	ADAM12, ADAM8 +234 more	Copy number loss	See cases	GPathogenic
Select item 3061841	GRCh38/hg38 10q26.2-26.3(chr10:125976998-133427130)x1	LOC126861083, LOC126861084 +201 more	Copy number loss	Duane syndrome type 1 +1 more	GPathogenic
Select item 58823	GRCh38/hg38 10q26.2-26.3(chr10:126256585-133613938)x1	ADAM12, ADAM8 +207 more	Copy number loss	See cases	GPathogenic
Select item 144558	GRCh38/hg38 10q26.2-26.3(chr10:126730896-133620609)x1	LOC130005011, LOC130005012 +199 more	Copy number loss	See cases	GPathogenic
Select item 155548	GRCh38/hg38 10q26.2-26.3(chr10:126794646-133613639)x1	ADAM8, ADGRA1 +199 more	Copy number loss	See cases	GPathogenic
Select item 155174	GRCh38/hg38 10q26.2-26.3(chr10:127435985-133622588)x1	ADAM8, ADGRA1 +192 more	Copy number loss	See cases	GPathogenic
Select item 146431	GRCh38/hg38 10q26.2-26.3(chr10:127640489-132776585)x1	AS-PTPRE, BNIP3 +121 more	Copy number loss	See cases	GPathogenic
Select item 152433	GRCh38/hg38 10q26.2-26.3(chr10:127664168-133622588)x3	ADAM8, ADGRA1 +190 more	Copy number gain	See cases	GLikely pathogenic
Select item 149102	GRCh38/hg38 10q26.2-26.3(chr10:127849717-133622588)x1	ADAM8, ADGRA1 +189 more	Copy number loss	See cases	GPathogenic
Select item 149101	GRCh38/hg38 10q26.2-26.3(chr10:128549913-133622588)x1	LOC130004973, LOC130004974 +170 more	Copy number loss	See cases	GPathogenic
Select item 147736	GRCh38/hg38 10q26.3(chr10:128872419-133564028)x3	ADAM8, ADGRA1 +168 more	Copy number gain	See cases	GPathogenic
Select item 148897	GRCh38/hg38 10q26.3(chr10:129427520-133622588)x1	ADAM8, ADGRA1 +165 more	Copy number loss	See cases	GPathogenic
Select item 146234	GRCh38/hg38 10q26.3(chr10:129549258-133620674)x1	LOC130004974, LOC130004975 +163 more	Copy number loss	See cases	GPathogenic
Select item 58825	GRCh38/hg38 10q26.3(chr10:129673966-133613938)x1	ADAM8, ADGRA1 +158 more	Copy number loss	See cases	GPathogenic
Select item 155487	GRCh38/hg38 10q26.3(chr10:130625650-133613639)x1	ADAM8, ADGRA1 +135 more	Copy number loss	See cases	GUncertain significance
Select item 155695	GRCh38/hg38 10q26.3(chr10:131424682-133613639)x1	ADAM8, ADGRA1 +127 more	Copy number loss	See cases	GLikely pathogenic
Select item 57314	GRCh38/hg38 10q26.3(chr10:131457361-133620674)x1	ADAM8, ADGRA1 +127 more	Copy number loss	See cases	GPathogenic
Select item 58853	GRCh38/hg38 10q26.3(chr10:131914873-133613938)x1	ADAM8, ADGRA1 +115 more	Copy number loss	See cases	GPathogenic
Select item 146073	GRCh38/hg38 10q26.3(chr10:132178475-133620674)x1	ADAM8, ADGRA1 +105 more	Copy number loss	See cases	GPathogenic
Select item 57950	GRCh38/hg38 10q26.3(chr10:132445383-133398465)x3	ADAM8, ADGRA1 +69 more	Copy number gain	See cases	GUncertain significance
Select item 58854	GRCh38/hg38 10q26.3(chr10:132475849-133620674)x1	ADAM8, ADGRA1 +79 more	Copy number loss	See cases	GPathogenic
Select item 3286084	NM_005539.5(INPP5A):c.20C>T (p.Ala7Val)	INPP5A (A7V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109803	NM_005539.5(INPP5A):c.22C>T (p.Pro8Ser)	INPP5A (P8S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591345	NM_005539.5(INPP5A):c.25G>A (p.Gly9Ser)	INPP5A (G9S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285114	NM_005539.5(INPP5A):c.29C>T (p.Thr10Ile)	INPP5A (T10I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2620141	NM_005539.5(INPP5A):c.34G>T (p.Val12Leu)	INPP5A (V12L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209364	NM_005539.5(INPP5A):c.104G>A (p.Arg35Gln)	INPP5A (R35Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2227069	NM_005539.5(INPP5A):c.121G>A (p.Val41Met)	INPP5A (V41M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542684	NM_005539.5(INPP5A):c.158G>C (p.Cys53Ser)	INPP5A (C53S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 738280	NM_005539.5(INPP5A):c.183C>T (p.Tyr61=)	INPP5A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2397245	NM_005539.5(INPP5A):c.206A>G (p.Asp69Gly)	INPP5A (D69G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109804	NM_005539.5(INPP5A):c.247G>A (p.Glu83Lys)	INPP5A (E83K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313046	NM_005539.5(INPP5A):c.413A>G (p.Asp138Gly)	INPP5A (D138G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286082	NM_005539.5(INPP5A):c.420A>C (p.Leu140Phe)	INPP5A (L140F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109805	NM_005539.5(INPP5A):c.662G>A (p.Arg221Gln)	INPP5A (R157Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 769791	NM_005539.5(INPP5A):c.711G>A (p.Leu237=)	INPP5A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2466481	NM_005539.5(INPP5A):c.755T>C (p.Met252Thr)	INPP5A (M252T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590563	NM_005539.5(INPP5A):c.782A>G (p.Asn261Ser)	INPP5A (N261S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350933	NM_005539.5(INPP5A):c.799A>G (p.Ile267Val)	INPP5A (I267V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 782211	NM_005539.5(INPP5A):c.813G>A (p.Ser271=)	INPP5A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3286083	NM_005539.5(INPP5A):c.824G>A (p.Arg275Gln)	INPP5A (R211Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558674	NM_005539.5(INPP5A):c.829G>A (p.Val277Ile)	INPP5A (V213I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466743	NM_005539.5(INPP5A):c.859G>C (p.Asp287His)	INPP5A (D223H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109806	NM_005539.5(INPP5A):c.920A>G (p.Lys307Arg)	INPP5A (K243R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 157189	NC_000010.11:g.132776127_132855959dup	CFAP46, INPP5A +1 more	Duplication	Normal pregnancy	Gnot provided
Select item 2511997	NM_005539.5(INPP5A):c.1000C>T (p.Arg334Cys)	INPP5A (R270C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302361	NM_005539.5(INPP5A):c.1081G>C (p.Val361Leu)	INPP5A (V361L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109802	NM_005539.5(INPP5A):c.1108G>A (p.Val370Ile)	INPP5A (V306I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529510	NM_005539.5(INPP5A):c.1189G>A (p.Gly397Arg)	INPP5A (G333R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464177	NM_005539.5(INPP5A):c.1231G>A (p.Val411Met)	INPP5A (V347M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3148924	GRCh37/hg19 10q26.12-26.3(chr10:122331280-135426386)x1	ABRAXAS2, ACADSB +80 more	Copy number loss	not provided	GPathogenic
Select item 3063175	GRCh37/hg19 10q26.13-26.3(chr10:125987494-135427143)x1	ABRAXAS2, ADAM12 +55 more	Copy number loss	not specified	GPathogenic
Select item 3063164	GRCh37/hg19 10q23.33-26.3(chr10:95078198-135427143)x3	ABCC2, ABLIM1 +293 more	Copy number gain	not specified	GPathogenic
Select item 3063154	GRCh37/hg19 10q26.3(chr10:131398569-135427143)x1	ADAM8, ADGRA1 +31 more	Copy number loss	not specified	GPathogenic
Select item 3063149	GRCh37/hg19 10q26.13-26.3(chr10:126127397-135427143)x1	ABRAXAS2, ADAM12 +54 more	Copy number loss	not specified	GPathogenic
Select item 3024574	GRCh37/hg19 10q26.3(chr10:131299771-135441274)x1	ADAM8, ADGRA1 +32 more	Copy number loss	not provided	GPathogenic
Select item 2685393	GRCh37/hg19 10q26.3(chr10:133435524-135427143)x1	ADAM8, ADGRA1 +26 more	Copy number loss	not provided	GUncertain significance
Select item 2685391	GRCh37/hg19 10q26.2-26.3(chr10:128925940-135427143)x1	ADAM8, ADGRA1 +38 more	Copy number loss	not provided	GPathogenic
Select item 2684630	GRCh37/hg19 10q26.3(chr10:134539751-134761172)x3	CFAP46, INPP5A +2 more	Copy number gain	not provided	GUncertain significance
Select item 2684629	GRCh37/hg19 10q26.3(chr10:134130974-134579179)x3	INPP5A, LINC02870 +2 more	Copy number gain	not provided	GUncertain significance
Select item 2684628	GRCh37/hg19 10q26.3(chr10:132852693-134505024)x3	BNIP3, DPYSL4 +9 more	Copy number gain	not provided	GUncertain significance
Select item 2671974	GRCh37/hg19 10q25.1-26.3(chr10:111378692-135427143)x3	ABLIM1, ABRAXAS2 +145 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2671973	GRCh37/hg19 10q26.2-26.3(chr10:128289206-135427143)x1	TCERG1L, TCERG1L-AS1 +38 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 2580338	GRCh37/hg19 10q26.13-26.3(chr10:124895517-135440296)x1	ABRAXAS2, ADAM12 +62 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 2574696	GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143)	AGAP5, CRTAC1 +682 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574693	GRCh37/hg19 10q26.13-26.3(chr10:123477898-135427143)	GLRX3, GPR26 +77 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 2574686	GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143)	ABRAXAS2, CHCHD1 +673 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 2498475	GRCh37/hg19 10q26.12-26.3(chr10:122610933-135439810)x1	ABRAXAS2, ACADSB +80 more	Copy number loss	not provided	GPathogenic
Select item 1809436	GRCh37/hg19 10q26.3(chr10:132631529-135354972)x1	ADAM8, ADGRA1 +27 more	Copy number loss	not provided	GUncertain significance
Select item 1808640	GRCh37/hg19 10q26.2-26.3(chr10:130043370-135345340)x1	ADAM8, ADGRA1 +30 more	Copy number loss	not provided	GPathogenic
Select item 1808537	GRCh37/hg19 10q26.3(chr10:134589740-135125943)x3	ADAM8, ADGRA1 +9 more	Copy number gain	not provided	GUncertain significance
Select item 1711099	GRCh37/hg19 10q26.13-26.3(chr10:127198625-135427143)x3	ADAM12, ADAM8 +47 more	Copy number gain	See cases	GPathogenic
Select item 1711096	GRCh37/hg19 10q26.13-26.3(chr10:126914469-135427143)x1	ADAM12, ADAM8 +47 more	Copy number loss	See cases	GPathogenic
Select item 1706486	GRCh37/hg19 10q26.2-26.3(chr10:129605105-135427143)x1	GLRX3, INPP5A +34 more	Copy number loss	See cases	GPathogenic
Select item 1527622	GRCh37/hg19 10q26.2-26.3(chr10:129914228-135427143)	ADAM8, ADGRA1 +32 more	Copy number loss	not specified	GPathogenic
Select item 1527616	GRCh37/hg19 10q26.2-26.3(chr10:128465436-135427143)	ADAM8, ADGRA1 +38 more	Copy number loss	not specified	GPathogenic
Select item 1527609	GRCh37/hg19 10q26.12-26.3(chr10:122343861-135427143)	FAM24A, FAM24B +80 more	Copy number loss	not specified	GPathogenic
Select item 1527608	GRCh37/hg19 10q26.12-26.3(chr10:122125760-135062972)	ABRAXAS2, ACADSB +68 more	Copy number gain	not specified	GLikely pathogenic
Select item 1527605	GRCh37/hg19 10q25.1-26.3(chr10:108455687-135427143)	ABLIM1, ABRAXAS2 +146 more	Copy number gain	not specified	GPathogenic
Select item 1341149	GRCh37/hg19 10q26.3(chr10:134560780-134761172)x3	CFAP46, INPP5A +2 more	Copy number gain	not provided	GLikely benign
Select item 1180521	GRCh37/hg19 10q25.3-26.3(chr10:118247181-135435319)x3	ECHS1, EDRF1 +110 more	Copy number gain	not provided	GPathogenic

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