INPP5F[gene] - ClinVar

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Items: 84

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59707	GRCh38/hg38 10q24.31-26.3(chr10:100194215-132432797)x3	LOC126861081, LOC126861082 +1036 more	Copy number gain	See cases	GPathogenic
Select item 148679	GRCh38/hg38 10q24.31-26.3(chr10:100600492-133622588)x3	ABLIM1, ABRAXAS2 +1097 more	Copy number gain	See cases	GPathogenic
Select item 144206	GRCh38/hg38 10q25.1-26.3(chr10:108102587-133620674)x3	LOC130004745, LOC130004746 +802 more	Copy number gain	See cases	GPathogenic
Select item 57507	GRCh38/hg38 10q25.2-26.3(chr10:111313099-133620674)x3	VAX1, VENTX +679 more	Copy number gain	See cases	GPathogenic
Select item 148437	GRCh38/hg38 10q25.2-26.12(chr10:112701186-120970617)x3	DCLRE1A, ABLIM1 +248 more	Copy number gain	See cases	GLikely pathogenic
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 57088	GRCh38/hg38 10q26.11-26.13(chr10:119273012-123117390)x3	ATE1-AS1, BAG3 +119 more	Copy number gain	See cases	GPathogenic
Select item 152715	GRCh38/hg38 10q26.11(chr10:119671382-119835587)x3	BAG3, INPP5F +12 more	Copy number gain	See cases	GUncertain significance
Select item 153718	GRCh38/hg38 10q26.11-26.3(chr10:119707856-133613639)x3	LOC126861096, LOC126861097 +438 more	Copy number gain	See cases	GPathogenic
Select item 2541353	NM_014937.4(INPP5F):c.14A>G (p.Gln5Arg)	INPP5F, LOC130004858 (Q5R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2556615	NM_014937.4(INPP5F):c.87G>T (p.Gln29His)	INPP5F, LOC130004858 (Q29H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2606300	NM_014937.4(INPP5F):c.365C>T (p.Pro122Leu)	INPP5F (P122L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2454668	NM_014937.4(INPP5F):c.400T>C (p.Phe134Leu)	INPP5F (F134L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2470597	NM_014937.4(INPP5F):c.404C>T (p.Thr135Met)	INPP5F (T135M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2317777	NM_014937.4(INPP5F):c.422T>A (p.Val141Glu)	INPP5F (V141E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2289297	NM_014937.4(INPP5F):c.592G>A (p.Gly198Ser)	INPP5F (G198S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2558948	NM_014937.4(INPP5F):c.797C>T (p.Ser266Phe)	INPP5F (S266F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2604319	NM_014937.4(INPP5F):c.909T>G (p.Asn303Lys)	INPP5F (N303K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2206270	NM_014937.4(INPP5F):c.1067C>T (p.Ala356Val)	INPP5F (A356V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2481300	NM_014937.4(INPP5F):c.1141G>T (p.Ala381Ser)	INPP5F (A381S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2350794	NM_014937.4(INPP5F):c.1250T>C (p.Met417Thr)	INPP5F (M417T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2306501	NM_014937.4(INPP5F):c.1274T>C (p.Leu425Pro)	INPP5F (L425P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2260858	NM_014937.4(INPP5F):c.1399G>A (p.Val467Met)	INPP5F (V467M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2365192	NM_014937.4(INPP5F):c.1418C>T (p.Ala473Val)	INPP5F (A473V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2350795	NM_014937.4(INPP5F):c.1652A>G (p.Asn551Ser)	INPP5F (N551S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2333632	NM_014937.4(INPP5F):c.1757C>A (p.Ala586Asp)	INPP5F (A586D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2476789	NM_014937.4(INPP5F):c.1802A>C (p.Gln601Pro)	INPP5F (Q601P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2280930	NM_014937.4(INPP5F):c.1918G>A (p.Val640Met)	INPP5F (V640M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2521214	NM_014937.4(INPP5F):c.2201A>G (p.Lys734Arg)	INPP5F (K124R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2256709	NM_014937.4(INPP5F):c.2209A>G (p.Met737Val)	INPP5F (M105V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2511022	NM_014937.4(INPP5F):c.2227A>G (p.Ile743Val)	INPP5F (I133V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2618908	NM_014937.4(INPP5F):c.2232T>G (p.Ile744Met)	INPP5F (I112M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2402361	NM_014937.4(INPP5F):c.2322G>T (p.Lys774Asn)	INPP5F (K142N +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2242430	NM_014937.4(INPP5F):c.2425C>A (p.Pro809Thr)	INPP5F (P177T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2334934	NM_014937.4(INPP5F):c.2429A>C (p.Glu810Ala)	INPP5F (E200A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2589352	NM_014937.4(INPP5F):c.2477A>G (p.Lys826Arg)	INPP5F (K194R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2489090	NM_014937.4(INPP5F):c.2494G>C (p.Glu832Gln)	INPP5F (E222Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2410718	NM_014937.4(INPP5F):c.2516T>C (p.Val839Ala)	INPP5F (V229A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2598157	NM_014937.4(INPP5F):c.2699G>A (p.Arg900Gln)	INPP5F (R900Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2602350	NM_014937.4(INPP5F):c.2737A>G (p.Ser913Gly)	INPP5F (S281G +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2612804	NM_014937.4(INPP5F):c.2752C>T (p.Pro918Ser)	INPP5F (P286S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2282411	NM_014937.4(INPP5F):c.2767G>T (p.Val923Phe)	INPP5F (V291F +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2524907	NM_014937.4(INPP5F):c.2824T>C (p.Ser942Pro)	INPP5F (S942P +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2291119	NM_014937.4(INPP5F):c.2881C>A (p.His961Asn)	INPP5F (H329N +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2301078	NM_014937.4(INPP5F):c.2978A>G (p.Asn993Ser)	INPP5F (N993S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 1232724	NM_014937.4(INPP5F):c.2989A>G (p.Asn997Asp)	INPP5F (N387D +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2293791	NM_014937.4(INPP5F):c.3035C>T (p.Ser1012Leu)	INPP5F (S380L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2264111	NM_014937.4(INPP5F):c.3046G>T (p.Val1016Phe)	INPP5F (V406F +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2491620	NM_014937.4(INPP5F):c.3082G>T (p.Val1028Phe)	INPP5F (V1028F +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2261334	NM_014937.4(INPP5F):c.3139C>G (p.Leu1047Val)	INPP5F (L1047V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2326332	NM_014937.4(INPP5F):c.3154G>A (p.Gly1052Arg)	INPP5F (G1052R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2495848	NM_014937.4(INPP5F):c.3161A>G (p.His1054Arg)	INPP5F (H444R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2344400	NM_014937.4(INPP5F):c.3172T>C (p.Ser1058Pro)	INPP5F (S426P +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2483386	NM_014937.4(INPP5F):c.3224G>A (p.Arg1075Gln)	INPP5F (R1075Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2410423	NM_014937.4(INPP5F):c.3344A>C (p.Gln1115Pro)	INPP5F (Q1115P +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2614559	NM_014937.4(INPP5F):c.3394A>G (p.Ile1132Val)	INPP5F (I1132V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 3063162	GRCh37/hg19 10q25.1-26.13(chr10:107129993-123817654)x3	ABLIM1, ACSL5 +70 more	Copy number gain	not specified	GLikely pathogenic
Select item 2684621	GRCh37/hg19 10q25.1-26.3(chr10:111447991-133435388)x3	ABLIM1, ABRAXAS2 +117 more	Copy number gain	not provided	GPathogenic
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 2574696	GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143)	MTG1, NPS +679 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574686	GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143)	A1CF, ABCC2 +670 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 1808316	GRCh37/hg19 10q26.11-26.12(chr10:121307376-121700959)x3	BAG3, INPP5F +3 more	Copy number gain	not provided	GUncertain significance
Select item 1527607	GRCh37/hg19 10q26.11-26.13(chr10:120782191-123155522)	BAG3, DENND10 +12 more	Copy number gain	not specified	GUncertain significance
Select item 1527606	GRCh37/hg19 10q25.3-26.13(chr10:117019650-125217066)	ACADSB, ARMS2 +54 more	Copy number loss	not specified	GPathogenic
Select item 1527605	GRCh37/hg19 10q25.1-26.3(chr10:108455687-135427143)	ABLIM1, ABRAXAS2 +146 more	Copy number gain	not specified	GPathogenic
Select item 1330213	GRCh37/hg19 10q25.3-26.12(chr10:118891670-122349064)x1	CACUL1, PLPP4 +22 more	Copy number loss	Astigmatism +4 more	GUncertain significance
Select item 1180521	GRCh37/hg19 10q25.3-26.3(chr10:118247181-135435319)x3	ECHS1, EDRF1 +110 more	Copy number gain	not provided	GPathogenic
Select item 1077193	Single allele	BTBD16, C10orf120 +36 more	Deletion	not provided	GLikely pathogenic
Select item 815379	GRCh37/hg19 10q26.11-26.3(chr10:119996339-135427143)x3	FGFR2, FOXI2 +95 more	Copy number gain	not provided	GPathogenic
Select item 687114	GRCh37/hg19 10q25.2-26.3(chr10:114544537-135427143)x3	ABLIM1, ABRAXAS2 +130 more	Copy number gain	not provided	GPathogenic
Select item 635765	GRCh37/hg19 10q26.11(chr10:121430894-121474213)x1	BAG3, INPP5F	Copy number loss	Intellectual disability +1 more	GLikely benign
Select item 625657	GRCh37/hg19 10q25.1-26.3(chr10:110022170-135439095)	ABLIM1, ABRAXAS2 +146 more	Copy number gain	not provided	GPathogenic
Select item 625556	GRCh37/hg19 10q25.3-26.13(chr10:117024753-124942806)	ACADSB, ARMS2 +54 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 563802	GRCh37/hg19 10q23.33-26.3(chr10:94346520-135427143)x3	ABCC2, ABLIM1 +298 more	Copy number gain	not provided	GPathogenic
Select item 563801	GRCh37/hg19 10q24.33-26.3(chr10:105613040-135427143)x3	ABLIM1, ABRAXAS2 +157 more	Copy number gain	not provided	GPathogenic
Select item 563799	GRCh37/hg19 10q26.11-26.3(chr10:121269222-135427143)x3	ABRAXAS2, ACADSB +86 more	Copy number gain	not provided	GPathogenic
Select item 523165	GRCh37/hg19 10q11.21-26.3(chr10:42347406-135534747)x1	COX15, CPEB3 +569 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 443838	GRCh37/hg19 10q25.1-26.3(chr10:106003533-135427143)x3	ABLIM1, ABRAXAS2 +151 more	Copy number gain	See cases	GPathogenic
Select item 443323	GRCh37/hg19 10q23.32-26.3(chr10:93283493-135427143)x3	ABCC2, ABLIM1 +305 more	Copy number gain	See cases	GPathogenic
Select item 441987	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)	A1CF, ABCC2 +722 more	Copy number gain	See cases	GPathogenic
Select item 441986	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3	NFKB2, NHLRC2 +722 more	Copy number gain	See cases	GPathogenic
Select item 393995	GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3	A1CF, ANXA8L1 +723 more	Copy number gain	See cases	GPathogenic
Select item 253479	GRCh37/hg19 10q24.32-26.3(chr10:103288313-135512075)x3	ABLIM1, ABRAXAS2 +201 more	Copy number gain	See cases	GPathogenic

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Items: 84