ClinVar for Gene (Select 83547) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3314326	NM_031430.3(RILP):c.373G>A (p.Asp125Asn)	LOC125177403, RILP (D125N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3314325	NM_031430.3(RILP):c.1187C>T (p.Ser396Leu)	RILP (S396L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3314324	NM_031430.3(RILP):c.412G>A (p.Gly138Ser)	LOC125177403, RILP (G138S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3243205	NC_000017.10:g.(?_422368)_(8285628_?)dup	ABR, ACADVL +209 more	Duplication	not provided	GUncertain significance
Select item 3243204	NC_000017.10:g.(?_882539)_(1565467_?)del	BHLHA9, ABR +12 more	Deletion	not provided	GPathogenic
Select item 3243179	NC_000017.10:g.(?_1516489)_(1565447_?)del	PRPF8, RILP +2 more	Deletion	not provided	GPathogenic
Select item 3243178	NC_000017.10:g.(?_1552664)_(1554255_?)del	PRPF8, RILP	Deletion	not provided	GUncertain significance
Select item 3242329	GRCh37/hg19 17p13.3(chr17:722145-1875784)x1	ABR, BHLHA9 +20 more	Copy number loss	not provided	GUncertain significance
Select item 3154302	NM_031430.3(RILP):c.955G>A (p.Ala319Thr)	RILP (A319T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154301	NM_031430.3(RILP):c.892C>T (p.Arg298Trp)	RILP (R298W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154300	NM_031430.3(RILP):c.883C>T (p.Arg295Trp)	RILP (R295W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154299	NM_031430.3(RILP):c.584G>A (p.Arg195Gln)	RILP (R195Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154298	NM_031430.3(RILP):c.554C>T (p.Ala185Val)	RILP (A185V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154297	NM_031430.3(RILP):c.503A>T (p.Gln168Leu)	RILP (Q168L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154296	NM_031430.3(RILP):c.39G>C (p.Trp13Cys)	RILP (W13C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154295	NM_031430.3(RILP):c.223G>C (p.Asp75His)	RILP (D75H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063527	GRCh37/hg19 17p13.3(chr17:1505119-3010963)x1	CLUH, DPH1 +26 more	Copy number loss	not specified	GPathogenic
Select item 3063515	GRCh37/hg19 17p13.3(chr17:1483585-1714805)x3	MIR22, PRPF8 +8 more	Copy number gain	not specified	GUncertain significance
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 2685592	GRCh37/hg19 17p13.3(chr17:1469988-1591788)x1	PRPF8, RILP +2 more	Copy number loss	not provided	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 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 2613171	NM_031430.3(RILP):c.543G>C (p.Gln181His)	RILP (Q181H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606260	NM_031430.3(RILP):c.418G>A (p.Glu140Lys)	LOC125177403, RILP (E140K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592600	NM_031430.3(RILP):c.365G>C (p.Arg122Pro)	LOC125177403, RILP (R122P)	Single nucleotide variant (missense variant)	not specified	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 2552009	NM_031430.3(RILP):c.140G>A (p.Gly47Glu)	RILP (G47E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510723	NM_031430.3(RILP):c.121G>T (p.Asp41Tyr)	RILP (D41Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486874	NM_031430.3(RILP):c.1120C>G (p.Gln374Glu)	RILP (Q374E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2445502	NC_000017.10:g.(?_422368)_(2585096_?)dup	HIC1, GEMIN4 +37 more	Duplication	not provided	GUncertain significance
Select item 2445495	NC_000017.10:g.(?_422368)_(1945151_?)del	TIMM22, GEMIN4 +26 more	Deletion	not provided	GPathogenic
Select item 2425641	NC_000017.10:g.(?_422368)_(1680740_?)del	INPP5K, MIR22 +22 more	Deletion	not provided	GUncertain significance
Select item 2423901	NC_000017.10:g.(?_1478898)_(1642177_?)del	MIR22, PRPF8 +5 more	Deletion	not provided	GPathogenic
Select item 2410652	NM_031430.3(RILP):c.1135G>A (p.Ala379Thr)	RILP (A379T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2395040	NM_031430.3(RILP):c.49G>A (p.Glu17Lys)	RILP (E17K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383266	NM_031430.3(RILP):c.703C>G (p.Pro235Ala)	RILP (P235A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349870	NM_031430.3(RILP):c.1094G>T (p.Ser365Ile)	RILP (S365I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296190	NM_031430.3(RILP):c.289C>T (p.Arg97Cys)	LOC125177403, RILP (R97C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286606	NM_031430.3(RILP):c.659G>A (p.Gly220Glu)	RILP (G220E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250719	NM_031430.3(RILP):c.829C>T (p.Leu277Phe)	RILP (L277F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239315	NM_031430.3(RILP):c.110C>T (p.Thr37Ile)	RILP (T37I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233254	NM_031430.3(RILP):c.1106G>T (p.Gly369Val)	RILP (G369V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2231042	NM_031430.3(RILP):c.212G>A (p.Gly71Glu)	RILP (G71E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2229175	NM_031430.3(RILP):c.238T>G (p.Ser80Ala)	RILP (S80A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215760	NM_031430.3(RILP):c.106G>A (p.Gly36Ser)	RILP (G36S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212042	NM_031430.3(RILP):c.1175G>T (p.Cys392Phe)	RILP (C392F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209433	NM_031430.3(RILP):c.655C>A (p.Pro219Thr)	RILP (P219T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207315	NM_031430.3(RILP):c.321G>T (p.Gln107His)	LOC125177403, RILP (Q107H)	Single nucleotide variant (missense variant)	not specified	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 1400855	NC_000017.10:g.(?_725577)_(1680740_?)dup	MYO1C, NXN +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 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 1048616	GRCh37/hg19 17p13.3(chr17:1479954-1585094)x1	PRPF8, RILP +2 more	Copy number loss	See cases	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 932228	GRCh38/hg38 17p13.3(chr17:1113701-1844036)x3	SERPINF1, SERPINF2 +53 more	Copy number gain	Chromosome 17p13.3 duplication syndrome	GPathogenic
Select item 866049	NM_006445.4(PRPF8):c.6334AAG[1] (p.Lys2113del)	PRPF8, RILP (K2113del)	Microsatellite (inframe_deletion)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 832985	NC_000017.11:g.(?_1613195)_(1681690_?)dup	PRPF8, RILP +2 more	Duplication	not provided	GUncertain significance
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
Select item 815874	GRCh37/hg19 17p13.3(chr17:525-2221159)x1	ABR, BHLHA9 +36 more	Copy number loss	not provided	GPathogenic
Select item 687701	GRCh37/hg19 17p13.3(chr17:1501331-2832123)x3	CLUH, DPH1 +24 more	Copy number gain	not provided	GPathogenic
Select item 687549	GRCh37/hg19 17p13.3(chr17:1334510-1550848)x3	CRK, INPP5K +5 more	Copy number gain	not provided	GUncertain significance
Select item 625578	GRCh37/hg19 17p13.3-13.2(chr17:47546-6287620)	ABR, ALOX15 +115 more	Copy number gain	Chromosome 17P13.3, telomeric, duplication syndrome	GPathogenic
Select item 564386	GRCh37/hg19 17p13.3(chr17:1505191-1722313)x3	SERPINF1, MIR22 +8 more	Copy number gain	not provided	GUncertain significance
Select item 564385	GRCh37/hg19 17p13.3(chr17:1180644-1826928)x3	CRK, INPP5K +15 more	Copy number gain	not provided	GPathogenic
Select item 564377	GRCh37/hg19 17p13.3-12(chr17:525-11186432)x3	ABR, ACADVL +240 more	Copy number gain	not provided	GPathogenic
Select item 544685	GRCh37/hg19 17p13.3(chr17:1-2538512)x4,5	INPP5K, LIAT1 +41 more	Copy number gain	Echogenic fetal bowel +4 more	GUncertain significance
Select item 523260	GRCh37/hg19 17p13.3(chr17:1361431-2573023)	MIR212, MIR22 +25 more	Copy number loss	Abnormal facial shape +2 more	GPathogenic
Select item 443660	GRCh37/hg19 17p13.3(chr17:800049-2390454)x1	ABR, BHLHA9 +31 more	Copy number loss	See cases	GPathogenic
Select item 443659	GRCh37/hg19 17p13.3-12(chr17:525-15027737)x3	ABR, ACADVL +250 more	Copy number gain	See cases	GPathogenic
Select item 443265	GRCh37/hg19 17p13.3(chr17:525-2750745)x1	ABR, BHLHA9 +43 more	Copy number loss	See cases	GPathogenic
Select item 443246	GRCh37/hg19 17p13.3(chr17:808735-1850373)x3	ABR, BHLHA9 +20 more	Copy number gain	See cases	GLikely pathogenic
Select item 443023	GRCh37/hg19 17p13.3-13.2(chr17:525-3825428)x1	ABR, ASPA +68 more	Copy number loss	See cases	GPathogenic
Select item 442860	GRCh37/hg19 17p13.3(chr17:525-1968434)x1	ABR, BHLHA9 +35 more	Copy number loss	See cases	GPathogenic
Select item 442755	GRCh37/hg19 17p13.3(chr17:525-2264023)x1	ABR, BHLHA9 +38 more	Copy number loss	See cases	GPathogenic
Select item 442031	GRCh37/hg19 17p13.3-13.2(chr17:525-4151421)x3	ABR, ANKFY1 +72 more	Copy number gain	See cases	GPathogenic
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	ALOX12, ALOX12B +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	SPEM2, TBCD +1143 more	Copy number gain	See cases	GPathogenic
Select item 441626	GRCh37/hg19 17p13.3(chr17:936458-1647108)x3	ABR, BHLHA9 +14 more	Copy number gain	See cases	GLikely pathogenic
Select item 395716	GRCh37/hg19 17p13.3-13.1(chr17:1113102-6742486)	AIPL1, ALOX15 +115 more	Copy number gain	See cases	GPathogenic
Select item 395641	GRCh37/hg19 17p13.3(chr17:900530-1747271)x3	ABR, BHLHA9 +18 more	Copy number gain	See cases	GLikely pathogenic
Select item 394875	GRCh37/hg19 17p13.3(chr17:1114083-1784979)x1	RILP, RPA1 +16 more	Copy number loss	See cases	GPathogenic
Select item 394439	GRCh37/hg19 17p13.3(chr17:48858-2940028)x1	NXN, OVCA2 +42 more	Copy number loss	See cases	GPathogenic
Select item 394212	GRCh37/hg19 17p13.3-13.2(chr17:48858-3379400)x1	ABR, ASPA +55 more	Copy number loss	See cases	GPathogenic
Select item 393889	GRCh37/hg19 17p13.3(chr17:6160-2002365)	ABR, BHLHA9 +35 more	Copy number gain	See cases	GPathogenic
Select item 253733	GRCh37/hg19 17p13.3(chr17:1409783-1857577)x1	INPP5K, MIR22 +12 more	Copy number loss	See cases	GUncertain significance
Select item 253507	GRCh37/hg19 17p13.3-13.2(chr17:919381-4046915)x3	ABR, ASPA +60 more	Copy number gain	See cases	GPathogenic
Select item 253440	GRCh37/hg19 17p13.3(chr17:1218064-2619473)x1	MIR212, SCARF1 +28 more	Copy number loss	See cases	GPathogenic
Select item 253349	GRCh37/hg19 17p13.3(chr17:961016-1641881)x3	ABR, BHLHA9 +13 more	Copy number gain	See cases	GLikely pathogenic
Select item 155112	GRCh38/hg38 17p13.3(chr17:1227482-2082382)x1	ABR, BHLHA9 +86 more	Copy number loss	See cases	GLikely pathogenic

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