ClinVar for Gene (Select 51763) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3369257	NM_016532.4(INPP5K):c.1339C>T (p.Gln447Ter)	INPP5K (Q371* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 3359632	NM_016532.4(INPP5K):c.301T>G (p.Phe101Val)	INPP5K (F101V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3286124	NM_016532.4(INPP5K):c.676G>A (p.Ala226Thr)	INPP5K (A150T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3286123	NM_016532.4(INPP5K):c.616C>T (p.Arg206Trp)	INPP5K (R130W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3286122	NM_016532.4(INPP5K):c.326A>G (p.Tyr109Cys)	INPP5K (Y109C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3286121	NM_016532.4(INPP5K):c.613G>A (p.Val205Ile)	INPP5K (V205I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3286120	NM_016532.4(INPP5K):c.763G>T (p.Asp255Tyr)	INPP5K (D179Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3243205	NC_000017.10:g.(?_422368)_(8285628_?)dup	FBXO39, FGF11 +209 more	Duplication	not provided	GUncertain significance
Select item 3243204	NC_000017.10:g.(?_882539)_(1565467_?)del	ABR, BHLHA9 +12 more	Deletion	not provided	GPathogenic
Select item 3242329	GRCh37/hg19 17p13.3(chr17:722145-1875784)x1	ABR, BHLHA9 +20 more	Copy number loss	not provided	GUncertain significance
Select item 3109864	NM_016532.4(INPP5K):c.86C>G (p.Pro29Arg)	INPP5K (P29R)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3109863	NM_016532.4(INPP5K):c.854C>T (p.Thr285Ile)	INPP5K (T209I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3109862	NM_016532.4(INPP5K):c.830G>A (p.Arg277Gln)	INPP5K (R201Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3109861	NM_016532.4(INPP5K):c.685C>T (p.His229Tyr)	INPP5K (H153Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3109860	NM_016532.4(INPP5K):c.617G>A (p.Arg206Gln)	INPP5K (R130Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3109859	NM_016532.4(INPP5K):c.191C>G (p.Ser64Cys)	INPP5K (S64C)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3109858	NM_016532.4(INPP5K):c.1210C>G (p.Pro404Ala)	INPP5K (P404A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3109857	NM_016532.4(INPP5K):c.1185+4C>T	INPP5K	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 3109856	NM_016532.4(INPP5K):c.1021G>A (p.Val341Met)	INPP5K (V341M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3067385	NM_016532.4(INPP5K):c.813C>T (p.Ile271=)	INPP5K	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3063518	GRCh37/hg19 17p13.3(chr17:1070465-1413071)x1	ABR, BHLHA9 +5 more	Copy number loss	not specified	GPathogenic
Select item 3063489	GRCh37/hg19 17p13.3(chr17:1139864-1703566)x3	BHLHA9, CRK +15 more	Copy number gain	not specified	GPathogenic
Select item 3063486	GRCh37/hg19 17p13.3-11.2(chr17:525-21510992)x3	ABR, ACADVL +329 more	Copy number gain	not specified	GPathogenic
Select item 3063485	GRCh37/hg19 17p13.3-13.2(chr17:9474-6017500)x1	ABR, ALOX15 +116 more	Copy number loss	not specified	GPathogenic
Select item 3055915	NM_016532.4(INPP5K):c.667-10T>G	INPP5K	Single nucleotide variant (intron variant)	INPP5K-related disorder	GBenign
Select item 3048352	NM_016532.4(INPP5K):c.960G>A (p.Leu320=)	INPP5K	Single nucleotide variant (synonymous variant)	INPP5K-related disorder	GLikely benign
Select item 3046148	NM_016532.4(INPP5K):c.643G>A (p.Gly215Ser)	INPP5K (G139S +1 more)	Single nucleotide variant (missense variant)	INPP5K-related disorder	GBenign
Select item 2689249	NM_016532.4(INPP5K):c.32G>A (p.Gly11Asp)	INPP5K (G11D)	Single nucleotide variant (5 prime UTR variant +1 more)	Congenital muscular dystrophy with cataracts and intellectual disability	GUncertain significance
Select item 2685591	GRCh37/hg19 17p13.3(chr17:1225474-2201587)x1	CRK, DPH1 +21 more	Copy number loss	not provided	GLikely pathogenic
Select item 2685590	GRCh37/hg19 17p13.3-13.2(chr17:526-3441645)x1	ABR, ASPA +57 more	Copy number loss	not provided	GPathogenic
Select item 2684828	GRCh37/hg19 17p13.3(chr17:1203617-1429687)x3	CRK, INPP5K +4 more	Copy number gain	not provided	GPathogenic
Select item 2684825	GRCh37/hg19 17p13.3(chr17:526-2687966)x3	ABR, BHLHA9 +42 more	Copy number gain	not provided	GPathogenic
Select item 2671597	Single allele	ABR, ALOX15 +80 more	Deletion	not provided	GPathogenic
Select item 2647189	NM_016532.4(INPP5K):c.-4G>A	INPP5K	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 2647188	NM_016532.4(INPP5K):c.237G>A (p.Val79=)	INPP5K	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2647187	NM_016532.4(INPP5K):c.478C>T (p.Arg160Trp)	INPP5K (R160W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2647186	NM_016532.4(INPP5K):c.531C>T (p.Asp177=)	INPP5K	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2647185	NM_016532.4(INPP5K):c.857C>A (p.Pro286His)	INPP5K (P210H +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2647184	NM_016532.4(INPP5K):c.870G>A (p.Ala290=)	INPP5K	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2647183	NM_016532.4(INPP5K):c.1293C>T (p.Ile431=)	INPP5K	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2620361	NM_016532.4(INPP5K):c.700C>T (p.Arg234Trp)	INPP5K (R234W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2579287	GRCh38/hg38 17p13.3-12(chr17:165730-11404096)x3	SAT2, SCARF1 +911 more	Copy number gain	Chromosome 17p13.3 duplication syndrome	GPathogenic
Select item 2445502	NC_000017.10:g.(?_422368)_(2585096_?)dup	ABR, BHLHA9 +37 more	Duplication	not provided	GUncertain significance
Select item 2445495	NC_000017.10:g.(?_422368)_(1945151_?)del	ABR, BHLHA9 +26 more	Deletion	not provided	GPathogenic
Select item 2425641	NC_000017.10:g.(?_422368)_(1680740_?)del	ABR, BHLHA9 +22 more	Deletion	not provided	GUncertain significance
Select item 2403289	NM_016532.4(INPP5K):c.1295C>T (p.Pro432Leu)	INPP5K (P356L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2401745	NM_016532.4(INPP5K):c.850G>A (p.Asp284Asn)	INPP5K (D284N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2360889	NM_016532.4(INPP5K):c.692C>T (p.Pro231Leu)	INPP5K (P155L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2325740	NM_016532.4(INPP5K):c.1297C>T (p.Pro433Ser)	INPP5K (P357S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2311796	NM_016532.4(INPP5K):c.763G>A (p.Asp255Asn)	INPP5K (D179N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2272621	NM_016532.4(INPP5K):c.591C>G (p.Ile197Met)	INPP5K (I121M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2248908	NM_016532.4(INPP5K):c.142T>C (p.Tyr48His)	INPP5K (Y48H)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2237405	NM_016532.4(INPP5K):c.343A>G (p.Thr115Ala)	INPP5K (T115A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2236729	NM_016532.4(INPP5K):c.865C>G (p.Pro289Ala)	INPP5K (P289A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2236079	NM_016532.4(INPP5K):c.296T>C (p.Leu99Pro)	INPP5K (L23P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2231658	NM_016532.4(INPP5K):c.1076C>T (p.Pro359Leu)	INPP5K (P283L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2231643	NM_016532.4(INPP5K):c.466A>G (p.Asn156Asp)	INPP5K (N156D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2229192	NM_016532.4(INPP5K):c.776+6G>T	INPP5K	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 2228388	NM_016532.4(INPP5K):c.1205A>G (p.Asn402Ser)	INPP5K (N402S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2227819	NM_016532.4(INPP5K):c.553G>T (p.Asp185Tyr)	INPP5K (D109Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2227818	NM_016532.4(INPP5K):c.1229_1230del (p.Phe410fs)	INPP5K (F334fs +1 more)	Deletion (frameshift variant)	Inborn genetic diseases	GLikely pathogenic
Select item 2219855	NM_016532.4(INPP5K):c.1112G>A (p.Arg371Gln)	INPP5K (R295Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2206640	NM_016532.4(INPP5K):c.131A>G (p.Asn44Ser)	INPP5K (N44S)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2127870	NM_016532.4(INPP5K):c.586C>T (p.Arg196Trp)	INPP5K (R196W +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1808625	GRCh37/hg19 17p13.3(chr17:526-1690452)x1	ABR, BHLHA9 +27 more	Copy number loss	not provided	GPathogenic
Select item 1808588	GRCh37/hg19 17p13.3(chr17:1377247-2455613)x3	DPH1, HIC1 +24 more	Copy number gain	not provided	GUncertain significance
Select item 1807785	GRCh37/hg19 17p13.3-13.2(chr17:1095592-3484368)x3	ASPA, BHLHA9 +46 more	Copy number gain	not provided	GPathogenic
Select item 1799521	NM_016532.4(INPP5K):c.152+5G>T	INPP5K	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1799519	NM_016532.4(INPP5K):c.809G>A (p.Arg270His)	INPP5K (R270H +1 more)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy with cataracts and intellectual disability	GUncertain significance
Select item 1710488	NM_016532.4(INPP5K):c.1247G>C (p.Ser416Thr)	INPP5K (S340T +1 more)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy with cataracts and intellectual disability	GUncertain significance
Select item 1710312	NM_016532.4(INPP5K):c.753_756del (p.Arg251fs)	INPP5K (R175fs +1 more)	Deletion (frameshift variant)	Congenital muscular dystrophy with cataracts and intellectual disability	GPathogenic
Select item 1710311	NM_016532.4(INPP5K):c.165G>T (p.Leu55Phe)	INPP5K (L55F)	Single nucleotide variant (5 prime UTR variant +1 more)	Congenital muscular dystrophy with cataracts and intellectual disability	GPathogenic
Select item 1708252	NM_016532.4(INPP5K):c.925A>G (p.Ser309Gly)	INPP5K (S233G +1 more)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy with cataracts and intellectual disability	GLikely pathogenic
Select item 1708251	NM_016532.4(INPP5K):c.653G>A (p.Trp218Ter)	INPP5K (W142* +1 more)	Single nucleotide variant (nonsense)	Congenital muscular dystrophy with cataracts and intellectual disability	GLikely pathogenic
Select item 1703618	GRCh37/hg19 17p13.3(chr17:525-1464281)	ABR, BHLHA9 +17 more	Copy number loss	Miller Dieker syndrome	GPathogenic
Select item 1690667	NM_016532.4(INPP5K):c.881_883del (p.Ser294del)	INPP5K (S218del +1 more)	Deletion (inframe_deletion)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1400855	NC_000017.10:g.(?_725577)_(1680740_?)dup	ABR, BHLHA9 +17 more	Duplication	not provided	GUncertain significance
Select item 1340305	GRCh37/hg19 17p13.3(chr17:1176459-1570012)x3	CRK, INPP5K +8 more	Copy number gain	not provided	GPathogenic
Select item 1340219	GRCh37/hg19 17p13.3(chr17:1193547-1403538)x3	CRK, INPP5K +3 more	Copy number gain	not provided	GPathogenic
Select item 1340108	GRCh37/hg19 17p13.3(chr17:858365-1690452)x3	ABR, BHLHA9 +18 more	Copy number gain	not provided	GPathogenic
Select item 1339819	GRCh37/hg19 17p13.3(chr17:1041555-1576875)x3	ABR, BHLHA9 +10 more	Copy number gain	Chromosome 17p13.3 duplication syndrome	Gnot provided
Select item 1333698	NM_016532.4(INPP5K):c.419G>A (p.Gly140Asp)	INPP5K (G140D +1 more)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy with cataracts and intellectual disability	GUncertain significance
Select item 1333525	NM_016532.4(INPP5K):c.793C>T (p.Pro265Ser)	INPP5K (P189S +1 more)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy with cataracts and intellectual disability	GUncertain significance
Select item 1328439	GRCh37/hg19 17p13.3(chr17:1145231-1499243)x1	BHLHA9, CRK +6 more	Copy number loss	not provided	GPathogenic
Select item 1310801	NM_016532.4(INPP5K):c.569T>A (p.Phe190Tyr)	INPP5K (F114Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1309634	NM_016532.4(INPP5K):c.279G>A (p.Met93Ile)	INPP5K (M17I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1305951	NM_016532.4(INPP5K):c.1142G>C (p.Trp381Ser)	INPP5K (W305S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1185401	NM_016532.4(INPP5K):c.-60G>T	INPP5K	Single nucleotide variant (5 prime UTR variant)	Congenital muscular dystrophy with cataracts and intellectual disability +1 more	GBenign
Select item 1185400	NM_016532.4(INPP5K):c.554+16del	INPP5K	Deletion (intron variant)	Congenital muscular dystrophy with cataracts and intellectual disability +1 more	GBenign
Select item 1029611	NM_016532.4(INPP5K):c.302T>C (p.Phe101Ser)	INPP5K (F101S +1 more)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy with cataracts and intellectual disability	GUncertain significance
Select item 988932	GRCh37/hg19 17p13.3(chr17:722145-1875784)x1	TIMM22, TLCD2 +20 more	Copy number loss	not provided	GUncertain significance
Select item 981204	GRCh37/hg19 17p13.3(chr17:84287-2468384)x1	MNT, MRM3 +39 more	Copy number loss	Distal 17p13.3 microdeletion syndrome	GPathogenic
Select item 980147	GRCh37/hg19 17p13.3(chr17:525-1450120)x1	ABR, BHLHA9 +17 more	Copy number loss	not provided	GPathogenic
Select item 980146	GRCh37/hg19 17p13.3(chr17:998888-1457526)x3	CRK, TRARG1 +6 more	Copy number gain	not provided	GPathogenic
Select item 932228	GRCh38/hg38 17p13.3(chr17:1113701-1844036)x3	SERPINF1, SERPINF2 +53 more	Copy number gain	Chromosome 17p13.3 duplication syndrome	GPathogenic
Select item 932227	GRCh38/hg38 17p13.3(chr17:1192285-1641601)x3	LOC130059870, LOC130059871 +34 more	Copy number gain	Chromosome 17p13.3 duplication syndrome	GPathogenic
Select item 816554	GRCh37/hg19 17p13.3(chr17:1310685-1690452)x3	CRK, INPP5K +12 more	Copy number gain	not provided	GUncertain significance
Select item 816552	GRCh37/hg19 17p13.3(chr17:1204863-1751418)x3	CRK, INPP5K +14 more	Copy number gain	not provided	GPathogenic
Select item 816550	GRCh37/hg19 17p13.3(chr17:1009449-1722313)x3	ABR, BHLHA9 +16 more	Copy number gain	not provided	GPathogenic
Select item 816504	GRCh37/hg19 17p13.3-13.2(chr17:8547-5627408)x1	ABR, ALOX15 +115 more	Copy number loss	See cases	GPathogenic

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