51763[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154232	GRCh38/hg38 17p13.3(chr17:150732-3242868)x1	ABR, ABR-AS1 +224 more	Copy number loss	See cases	GPathogenic
Select item 154089	GRCh38/hg38 17p13.3-12(chr17:150732-14764202)x3	ABR, ABR-AS1 +962 more	Copy number gain	See cases	GPathogenic
Select item 153177	GRCh38/hg38 17p13.3-13.2(chr17:150732-5935377)x1	ABR, ABR-AS1 +463 more	Copy number loss	See cases	GPathogenic
Select item 149531	GRCh38/hg38 17p13.3-12(chr17:162016-12343901)x3	LOC130059883, LOC130059884 +922 more	Copy number gain	See cases	GPathogenic
Select item 149193	GRCh38/hg38 17p13.3(chr17:162016-2099130)x1	ABR, ABR-AS1 +144 more	Copy number loss	See cases	GLikely pathogenic
Select item 149158	GRCh38/hg38 17p13.3-13.1(chr17:162016-7697012)x1	TRARG1, TRPV1 +651 more	Copy number loss	See cases	GPathogenic
Select item 149146	GRCh38/hg38 17p13.3(chr17:162016-1682817)x3	ABR, ABR-AS1 +84 more	Copy number gain	See cases	GLikely pathogenic
Select item 148875	GRCh38/hg38 17p13.3(chr17:162016-1904358)x1	ABR, ABR-AS1 +102 more	Copy number loss	See cases	GLikely pathogenic
Select item 144699	GRCh38/hg38 17p13.3-13.1(chr17:162088-6959050)x1	ABR, ABR-AS1 +498 more	Copy number loss	See cases	GPathogenic
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 59542	GRCh38/hg38 17p13.3-13.2(chr17:193307-5652222)x1	LOC121848004, LOC121848005 +457 more	Copy number loss	See cases	GPathogenic
Select item 154373	GRCh38/hg38 17p13.3-13.2(chr17:198748-4265640)x1	ABR, ABR-AS1 +303 more	Copy number loss	See cases	GPathogenic
Select item 145643	GRCh38/hg38 17p13.3(chr17:198748-2685361)x1	LOC130059962, LOC130059963 +197 more	Copy number loss	See cases	GPathogenic
Select item 145642	GRCh38/hg38 17p13.3-13.1(chr17:198748-7491129)x3	LOC130059937, LOC130059938 +604 more	Copy number gain	See cases	GPathogenic
Select item 144305	GRCh38/hg38 17p13.3(chr17:198748-1920952)x1	ABR, ABR-AS1 +100 more	Copy number loss	See cases	GPathogenic
Select item 57445	GRCh38/hg38 17p13.3(chr17:198748-2261786)x1	ABR, ABR-AS1 +163 more	Copy number loss	See cases	GPathogenic
Select item 57265	GRCh38/hg38 17p13.3(chr17:198748-3102332)x1	ABR, ABR-AS1 +217 more	Copy number loss	See cases	GPathogenic
Select item 146594	GRCh38/hg38 17p13.3-13.2(chr17:226472-3655099)x1	LOC130059869, LOC130059870 +243 more	Copy number loss	See cases	GPathogenic
Select item 58652	GRCh38/hg38 17p13.3(chr17:234496-2385512)x3	LOC130059867, LOC130059868 +178 more	Copy number gain	See cases	GPathogenic
Select item 153060	GRCh38/hg38 17p13.3-13.2(chr17:237248-4735533)x1	LOC130059930, LOC130059931 +352 more	Copy number loss	See cases	GPathogenic
Select item 58655	GRCh38/hg38 17p13.3(chr17:436763-2527511)x3	ABR, ABR-AS1 +180 more	Copy number gain	See cases	GPathogenic
Select item 58657	GRCh38/hg38 17p13.3(chr17:445331-2385512)x3	ABR, ABR-AS1 +168 more	Copy number gain	See cases	GPathogenic
Select item 57425	GRCh38/hg38 17p13.3(chr17:644280-2193615)x3	SERPINF2, SLC43A2 +134 more	Copy number gain	See cases	GPathogenic
Select item 146265	GRCh38/hg38 17p13.3(chr17:847955-1641601)x3	ABR, ABR-AS1 +43 more	Copy number gain	See cases	GPathogenic
Select item 57358	GRCh38/hg38 17p13.3(chr17:847955-1589181)x3	ABR, ABR-AS1 +42 more	Copy number gain	See cases	GPathogenic
Select item 57165	GRCh38/hg38 17p13.3(chr17:1065649-2261786)x1	ABR, ABR-AS1 +119 more	Copy number loss	See cases	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 154829	GRCh38/hg38 17p13.3(chr17:1113825-1641612)x3	ABR, ABR-AS1 +35 more	Copy number gain	See cases	GPathogenic
Select item 152588	GRCh38/hg38 17p13.3(chr17:1119701-1561544)x3	ABR, ABR-AS1 +29 more	Copy number gain	See cases	GLikely pathogenic
Select item 58670	GRCh38/hg38 17p13.3(chr17:1174818-1634495)x3	ABR, ABR-AS1 +35 more	Copy number gain	See cases	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 146016	GRCh38/hg38 17p13.3(chr17:1209808-1931101)x3	ABR, BHLHA9 +51 more	Copy number gain	See cases	GPathogenic
Select item 149499	GRCh38/hg38 17p13.3(chr17:1227392-2261993)x1	ABR, BHLHA9 +114 more	Copy number loss	See cases	GPathogenic
Select item 155112	GRCh38/hg38 17p13.3(chr17:1227482-2082382)x1	ABR, BHLHA9 +86 more	Copy number loss	See cases	GLikely pathogenic
Select item 147453	GRCh38/hg38 17p13.3(chr17:1227482-2261786)x3	LOC130059912, LOC130059913 +114 more	Copy number gain	See cases	GLikely pathogenic
Select item 57472	GRCh38/hg38 17p13.3(chr17:1227482-1506548)x1	ABR, BHLHA9 +19 more	Copy number loss	See cases	GPathogenic
Select item 59560	GRCh38/hg38 17p13.3(chr17:1281181-1541624)x1	CRK, INPP5K +16 more	Copy number loss	See cases	GPathogenic
Select item 58671	GRCh38/hg38 17p13.3(chr17:1287199-3154232)x3	INPP5K, CCDC92B +164 more	Copy number gain	See cases	GPathogenic
Select item 149182	GRCh38/hg38 17p13.3(chr17:1311837-1530439)x3	CRK, INPP5K +15 more	Copy number gain	See cases	GLikely pathogenic
Select item 58672	GRCh38/hg38 17p13.3(chr17:1325809-1638055)x3	CRK, INPP5K +23 more	Copy number gain	See cases	GPathogenic
Select item 148529	GRCh38/hg38 17p13.3-13.2(chr17:1348488-3513273)x3	LOC130059937, LOC130059938 +174 more	Copy number gain	See cases	GLikely pathogenic
Select item 57176	GRCh38/hg38 17p13.3(chr17:1368601-1589181)x3	CRK, INPP5K +21 more	Copy number gain	See cases	GPathogenic
Select item 152374	GRCh38/hg38 17p13.3(chr17:1373829-1525806)x1	CRK, INPP5K +14 more	Copy number loss	See cases	GLikely pathogenic
Select item 148719	GRCh38/hg38 17p13.3(chr17:1393938-1624152)x3	CRK, INPP5K +21 more	Copy number gain	See cases	GUncertain significance
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 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 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 2647183	NM_016532.4(INPP5K):c.1293C>T (p.Ile431=)	INPP5K	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 796866	NM_016532.4(INPP5K):c.1269G>A (p.Val423=)	INPP5K	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 417782	NM_016532.4(INPP5K):c.1251_1252del (p.Asn417fs)	INPP5K (N417fs +1 more)	Deletion (frameshift variant)	Congenital muscular dystrophy with cataracts and intellectual disability	GPathogenic
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 2227818	NM_016532.4(INPP5K):c.1229_1230del (p.Phe410fs)	INPP5K (F334fs +1 more)	Deletion (frameshift variant)	Inborn genetic diseases	GLikely pathogenic
Select item 775158	NM_016532.4(INPP5K):c.1215C>T (p.Thr405=)	INPP5K	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 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 747989	NM_016532.4(INPP5K):c.1185+9C>G	INPP5K	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3109857	NM_016532.4(INPP5K):c.1185+4C>T	INPP5K	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 778651	NM_016532.4(INPP5K):c.1176C>T (p.Asn392=)	INPP5K	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 745106	NM_016532.4(INPP5K):c.1152C>T (p.Asp384=)	INPP5K	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 718460	NM_016532.4(INPP5K):c.1140C>T (p.Ala380=)	INPP5K	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
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 745024	NM_016532.4(INPP5K):c.1101+8G>C	INPP5K	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 710237	NM_016532.4(INPP5K):c.1077G>A (p.Pro359=)	INPP5K	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 741638	NM_016532.4(INPP5K):c.964-8G>A	INPP5K	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 758624	NM_016532.4(INPP5K):c.930C>T (p.Asp310=)	INPP5K	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 789650	NM_016532.4(INPP5K):c.927C>T (p.Ser309=)	INPP5K	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 748644	NM_016532.4(INPP5K):c.915G>A (p.Thr305=)	INPP5K	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 791338	NM_016532.4(INPP5K):c.914C>T (p.Thr305Met)	INPP5K (T305M +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 794600	NM_016532.4(INPP5K):c.903C>T (p.Ser301=)	INPP5K	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 417778	NM_016532.4(INPP5K):c.899A>G (p.Tyr300Cys)	INPP5K (Y300C +1 more)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy with cataracts and intellectual disability	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 2647184	NM_016532.4(INPP5K):c.870G>A (p.Ala290=)	INPP5K	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 778652	NM_016532.4(INPP5K):c.866C>T (p.Pro289Leu)	INPP5K (P213L +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
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 755760	NM_016532.4(INPP5K):c.864G>A (p.Pro288=)	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 727600	NM_016532.4(INPP5K):c.856C>G (p.Pro286Ala)	INPP5K (P286A +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 722213	NM_016532.4(INPP5K):c.855T>G (p.Thr285=)	INPP5K	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 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 3067385	NM_016532.4(INPP5K):c.813C>T (p.Ile271=)	INPP5K	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 417781	NM_016532.4(INPP5K):c.805G>A (p.Asp269Asn)	INPP5K (D269N +1 more)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy with cataracts and intellectual disability	GPathogenic
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 2229192	NM_016532.4(INPP5K):c.776+6G>T	INPP5K	Single nucleotide variant (intron 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 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 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 777023	NM_016532.4(INPP5K):c.735C>T (p.Pro245=)	INPP5K	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 741639	NM_016532.4(INPP5K):c.732G>A (p.Pro244=)	INPP5K	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 730439	NM_016532.4(INPP5K):c.732G>C (p.Pro244=)	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 788743	NM_016532.4(INPP5K):c.693G>A (p.Pro231=)	INPP5K	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
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

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