"Ambry Genetics"[submitter] AND "INPP5F"[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 65

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2541353	NM_014937.4(INPP5F):c.14A>G (p.Gln5Arg)	INPP5F, LOC130004858 (Q5R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286108	NM_014937.4(INPP5F):c.83T>A (p.Leu28His)	INPP5F, LOC130004858 (L28H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556615	NM_014937.4(INPP5F):c.87G>T (p.Gln29His)	INPP5F, LOC130004858 (Q29H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286107	NM_014937.4(INPP5F):c.232C>A (p.Pro78Thr)	INPP5F (P78T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286105	NM_014937.4(INPP5F):c.263A>G (p.Lys88Arg)	INPP5F (K88R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606300	NM_014937.4(INPP5F):c.365C>T (p.Pro122Leu)	INPP5F (P122L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454668	NM_014937.4(INPP5F):c.400T>C (p.Phe134Leu)	INPP5F (F134L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470597	NM_014937.4(INPP5F):c.404C>T (p.Thr135Met)	INPP5F (T135M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317777	NM_014937.4(INPP5F):c.422T>A (p.Val141Glu)	INPP5F (V141E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289297	NM_014937.4(INPP5F):c.592G>A (p.Gly198Ser)	INPP5F (G198S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558948	NM_014937.4(INPP5F):c.797C>T (p.Ser266Phe)	INPP5F (S266F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604319	NM_014937.4(INPP5F):c.909T>G (p.Asn303Lys)	INPP5F (N303K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206270	NM_014937.4(INPP5F):c.1067C>T (p.Ala356Val)	INPP5F (A356V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481300	NM_014937.4(INPP5F):c.1141G>T (p.Ala381Ser)	INPP5F (A381S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350794	NM_014937.4(INPP5F):c.1250T>C (p.Met417Thr)	INPP5F (M417T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306501	NM_014937.4(INPP5F):c.1274T>C (p.Leu425Pro)	INPP5F (L425P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260858	NM_014937.4(INPP5F):c.1399G>A (p.Val467Met)	INPP5F (V467M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365192	NM_014937.4(INPP5F):c.1418C>T (p.Ala473Val)	INPP5F (A473V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350795	NM_014937.4(INPP5F):c.1652A>G (p.Asn551Ser)	INPP5F (N551S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109838	NM_014937.4(INPP5F):c.1669T>C (p.Tyr557His)	INPP5F (Y557H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286101	NM_014937.4(INPP5F):c.1702A>G (p.Ile568Val)	INPP5F (I568V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333632	NM_014937.4(INPP5F):c.1757C>A (p.Ala586Asp)	INPP5F (A586D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476789	NM_014937.4(INPP5F):c.1802A>C (p.Gln601Pro)	INPP5F (Q601P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286096	NM_014937.4(INPP5F):c.1807T>G (p.Leu603Val)	INPP5F (L603V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280930	NM_014937.4(INPP5F):c.1918G>A (p.Val640Met)	INPP5F (V640M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109839	NM_014937.4(INPP5F):c.1942G>T (p.Ala648Ser)	INPP5F (A648S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3109840	NM_014937.4(INPP5F):c.2149G>C (p.Glu717Gln)	INPP5F (E85Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521214	NM_014937.4(INPP5F):c.2201A>G (p.Lys734Arg)	INPP5F (K124R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2256709	NM_014937.4(INPP5F):c.2209A>G (p.Met737Val)	INPP5F (M105V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511022	NM_014937.4(INPP5F):c.2227A>G (p.Ile743Val)	INPP5F (I133V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2618908	NM_014937.4(INPP5F):c.2232T>G (p.Ile744Met)	INPP5F (I112M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286104	NM_014937.4(INPP5F):c.2239A>G (p.Lys747Glu)	INPP5F (K137E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286099	NM_014937.4(INPP5F):c.2278A>G (p.Ile760Val)	INPP5F (I150V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402361	NM_014937.4(INPP5F):c.2322G>T (p.Lys774Asn)	INPP5F (K142N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109841	NM_014937.4(INPP5F):c.2402G>A (p.Arg801Gln)	INPP5F (R801Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242430	NM_014937.4(INPP5F):c.2425C>A (p.Pro809Thr)	INPP5F (P177T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334934	NM_014937.4(INPP5F):c.2429A>C (p.Glu810Ala)	INPP5F (E200A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589352	NM_014937.4(INPP5F):c.2477A>G (p.Lys826Arg)	INPP5F (K194R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489090	NM_014937.4(INPP5F):c.2494G>C (p.Glu832Gln)	INPP5F (E222Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410718	NM_014937.4(INPP5F):c.2516T>C (p.Val839Ala)	INPP5F (V229A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286097	NM_014937.4(INPP5F):c.2530C>G (p.Gln844Glu)	INPP5F (Q234E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109842	NM_014937.4(INPP5F):c.2533G>C (p.Ala845Pro)	INPP5F (A213P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286100	NM_014937.4(INPP5F):c.2632T>C (p.Ser878Pro)	INPP5F (S878P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286102	NM_014937.4(INPP5F):c.2699G>T (p.Arg900Leu)	INPP5F (R900L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598157	NM_014937.4(INPP5F):c.2699G>A (p.Arg900Gln)	INPP5F (R900Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602350	NM_014937.4(INPP5F):c.2737A>G (p.Ser913Gly)	INPP5F (S281G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109843	NM_014937.4(INPP5F):c.2742C>G (p.Ser914Arg)	INPP5F (S304R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2612804	NM_014937.4(INPP5F):c.2752C>T (p.Pro918Ser)	INPP5F (P286S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282411	NM_014937.4(INPP5F):c.2767G>T (p.Val923Phe)	INPP5F (V291F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524907	NM_014937.4(INPP5F):c.2824T>C (p.Ser942Pro)	INPP5F (S942P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286094	NM_014937.4(INPP5F):c.2849C>T (p.Thr950Ile)	INPP5F (T340I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291119	NM_014937.4(INPP5F):c.2881C>A (p.His961Asn)	INPP5F (H329N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301078	NM_014937.4(INPP5F):c.2978A>G (p.Asn993Ser)	INPP5F (N993S +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2293791	NM_014937.4(INPP5F):c.3035C>T (p.Ser1012Leu)	INPP5F (S380L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264111	NM_014937.4(INPP5F):c.3046G>T (p.Val1016Phe)	INPP5F (V406F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491620	NM_014937.4(INPP5F):c.3082G>T (p.Val1028Phe)	INPP5F (V1028F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286103	NM_014937.4(INPP5F):c.3113A>G (p.Lys1038Arg)	INPP5F (K428R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261334	NM_014937.4(INPP5F):c.3139C>G (p.Leu1047Val)	INPP5F (L1047V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326332	NM_014937.4(INPP5F):c.3154G>A (p.Gly1052Arg)	INPP5F (G1052R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495848	NM_014937.4(INPP5F):c.3161A>G (p.His1054Arg)	INPP5F (H444R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344400	NM_014937.4(INPP5F):c.3172T>C (p.Ser1058Pro)	INPP5F (S426P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286098	NM_014937.4(INPP5F):c.3179C>T (p.Ser1060Leu)	INPP5F (S1060L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483386	NM_014937.4(INPP5F):c.3224G>A (p.Arg1075Gln)	INPP5F (R1075Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410423	NM_014937.4(INPP5F):c.3344A>C (p.Gln1115Pro)	INPP5F (Q1115P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614559	NM_014937.4(INPP5F):c.3394A>G (p.Ile1132Val)	INPP5F (I1132V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 65