29418[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59672	GRCh38/hg38 5q21.3-33.2(chr5:106619588-156124387)x1	ABLIM3, ACSL6 +1672 more	Copy number loss	See cases	GPathogenic
Select item 59673	GRCh38/hg38 5q23.1-31.1(chr5:116677122-132686163)x1	LOC129994580, LOC129994581 +336 more	Copy number loss	See cases	GPathogenic
Select item 58356	GRCh38/hg38 5q23.2-31.1(chr5:126438406-132873967)x1	LOC129994513, LOC129994514 +200 more	Copy number loss	See cases	GPathogenic
Select item 149858	GRCh38/hg38 5q23.3-33.2(chr5:129847794-153353546)x3	LOC129994992, LOC129994993 +1157 more	Copy number gain	See cases	GPathogenic
Select item 57483	GRCh38/hg38 5q23.3-33.2(chr5:130860928-155321811)x3	ABLIM3, ACSL6 +1218 more	Copy number gain	See cases	GPathogenic
Select item 545310	NC_000005.10:g.(?_131428263)_(132208822_?)del	ACSL6, ACSL6-AS1 +23 more	Deletion	Schizophrenia	GLikely pathogenic
Select item 146119	GRCh38/hg38 5q31.1(chr5:131626503-135815054)x1	ACSL6, ACSL6-AS1 +263 more	Copy number loss	See cases	GPathogenic
Select item 1705847	NM_133372.3(FNIP1):c.3423-1G>T	FNIP1	Single nucleotide variant (splice acceptor variant)	not provided	Gnot provided
Select item 2794304	NM_133372.3(FNIP1):c.3423-8T>C	FNIP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2964775	NM_133372.3(FNIP1):c.3423-15T>C	FNIP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2413988	NM_133372.3(FNIP1):c.3422+15T>C	FNIP1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1950068	NM_133372.3(FNIP1):c.3389G>A (p.Arg1130His)	FNIP1 (R1102H +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2111800	NM_133372.3(FNIP1):c.3381G>A (p.Gly1127=)	FNIP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1991141	NM_133372.3(FNIP1):c.3381G>T (p.Gly1127=)	FNIP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1335870	NM_133372.3(FNIP1):c.3353G>A (p.Ser1118Asn)	FNIP1 (S1118N +2 more)	Single nucleotide variant (missense variant)	Immunodeficiency 93 and hypertrophic cardiomyopathy	GPathogenic
Select item 2082517	NM_133372.3(FNIP1):c.3317A>G (p.His1106Arg)	FNIP1 (H1106R +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2819351	NM_133372.3(FNIP1):c.3307-14C>T	FNIP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1928231	NM_133372.3(FNIP1):c.3306+17C>T	FNIP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2082760	NM_133372.3(FNIP1):c.3306+8T>C	FNIP1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1335874	NM_133372.3(FNIP1):c.3306+1G>A	FNIP1	Single nucleotide variant (splice donor variant)	Immunodeficiency 93 and hypertrophic cardiomyopathy	GPathogenic
Select item 2070880	NM_133372.3(FNIP1):c.3298C>T (p.Pro1100Ser)	FNIP1 (P1055S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2004500	NM_133372.3(FNIP1):c.3289A>G (p.Asn1097Asp)	FNIP1 (N1069D +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1983061	NM_133372.3(FNIP1):c.3242G>T (p.Ser1081Ile)	FNIP1 (S1053I +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3012554	NM_133372.3(FNIP1):c.3232T>C (p.Leu1078=)	FNIP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1335872	NM_133372.3(FNIP1):c.3218del (p.Leu1073fs)	FNIP1 (L1028fs +2 more)	Deletion (frameshift variant)	Immunodeficiency 93 and hypertrophic cardiomyopathy	GPathogenic
Select item 2325022	NM_133372.3(FNIP1):c.3212A>G (p.Asn1071Ser)	FNIP1 (N1043S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2071024	NM_133372.3(FNIP1):c.3200G>A (p.Arg1067Gln)	FNIP1 (R1022Q +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2228093	NM_133372.3(FNIP1):c.3191G>C (p.Ser1064Thr)	FNIP1 (S1036T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2062808	NM_133372.3(FNIP1):c.3152T>C (p.Ile1051Thr)	FNIP1 (I1006T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2194285	NM_133372.3(FNIP1):c.3135A>G (p.Ala1045=)	FNIP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1908559	NM_133372.3(FNIP1):c.3109-5T>C	FNIP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2687969	NM_133372.3(FNIP1):c.3108+74T>C	FNIP1	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2797002	NM_133372.3(FNIP1):c.3108+19T>C	FNIP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2208276	NM_133372.3(FNIP1):c.3098A>G (p.His1033Arg)	FNIP1 (H988R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2184338	NM_133372.3(FNIP1):c.3093A>G (p.Leu1031=)	FNIP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2168961	NM_133372.3(FNIP1):c.3088G>C (p.Asp1030His)	FNIP1 (D985H +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2548425	NM_133372.3(FNIP1):c.3070C>T (p.Arg1024Cys)	FNIP1 (R996C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2717996	NM_133372.3(FNIP1):c.3051T>C (p.Ile1017=)	FNIP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2038518	NM_133372.3(FNIP1):c.3024T>C (p.Tyr1008=)	FNIP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1943241	NM_133372.3(FNIP1):c.3015C>T (p.Cys1005=)	FNIP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2042809	NM_133372.3(FNIP1):c.2991G>A (p.Gly997=)	FNIP1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1985860	NM_133372.3(FNIP1):c.2988C>T (p.Phe996=)	FNIP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2001192	NM_133372.3(FNIP1):c.2973C>T (p.Pro991=)	FNIP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2043596	NM_133372.3(FNIP1):c.2940-6_2940-4del	FNIP1	Microsatellite (intron variant)	not provided	GBenign
Select item 2814052	NM_133372.3(FNIP1):c.2940-15G>A	FNIP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2030667	NM_133372.3(FNIP1):c.2940-16G>A	FNIP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2788957	NM_133372.3(FNIP1):c.2940-20del	FNIP1	Deletion (intron variant)	not provided	GBenign
Select item 2687941	NM_133372.3(FNIP1):c.2940-32A>T	FNIP1	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2025700	NM_133372.3(FNIP1):c.2922dup (p.Glu975Ter)	FNIP1 (E930* +2 more)	Duplication (nonsense)	not provided	GPathogenic
Select item 2042168	NM_133372.3(FNIP1):c.2911G>T (p.Ala971Ser)	FNIP1 (A943S +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2010810	NM_133372.3(FNIP1):c.2899C>A (p.Gln967Lys)	FNIP1 (Q967K +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2085521	NM_133372.3(FNIP1):c.2869A>G (p.Arg957Gly)	FNIP1 (R912G +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1983998	NM_133372.3(FNIP1):c.2855G>T (p.Gly952Val)	FNIP1 (G924V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2065453	NM_133372.3(FNIP1):c.2850T>C (p.Asp950=)	FNIP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2031591	NM_133372.3(FNIP1):c.2833dup (p.Asp945fs)	FNIP1 (D917fs +2 more)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 1925492	NM_133372.3(FNIP1):c.2797A>C (p.Ile933Leu)	FNIP1 (I888L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2802760	NM_133372.3(FNIP1):c.2790A>G (p.Glu930=)	FNIP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2063826	NM_133372.3(FNIP1):c.2786C>G (p.Thr929Ser)	FNIP1 (T929S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2043718	NM_133372.3(FNIP1):c.2779G>A (p.Val927Ile)	FNIP1 (V927I +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 487638	NM_133372.3(FNIP1):c.2753_2756del (p.Lys918fs)	FNIP1 (K873fs +2 more)	Deletion (frameshift variant)	Wolff-Parkinson-White pattern	GUncertain significance
Select item 2065554	NM_133372.3(FNIP1):c.2739C>A (p.Val913=)	FNIP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3279438	NM_133372.3(FNIP1):c.2731A>G (p.Ile911Val)	FNIP1 (I866V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2842015	NM_133372.3(FNIP1):c.2724A>G (p.Thr908=)	FNIP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2034954	NM_133372.3(FNIP1):c.2721T>C (p.Asp907=)	FNIP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2042018	NM_133372.3(FNIP1):c.2712C>G (p.Asp904Glu)	FNIP1 (D859E +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 2079395	NM_133372.3(FNIP1):c.2697C>T (p.Cys899=)	FNIP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2104130	NM_133372.3(FNIP1):c.2668A>G (p.Thr890Ala)	FNIP1 (T862A +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3279436	NM_133372.3(FNIP1):c.2665G>A (p.Glu889Lys)	FNIP1 (E861K +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3096127	NM_133372.3(FNIP1):c.2660G>A (p.Cys887Tyr)	FNIP1 (C842Y +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2045748	NM_133372.3(FNIP1):c.2650T>C (p.Phe884Leu)	FNIP1 (F856L +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2776786	NM_133372.3(FNIP1):c.2649A>T (p.Glu883Asp)	FNIP1 (E855D +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2288976	NM_133372.3(FNIP1):c.2646T>G (p.Asn882Lys)	FNIP1 (N854K +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1968742	NM_133372.3(FNIP1):c.2646T>C (p.Asn882=)	FNIP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2101001	NM_133372.3(FNIP1):c.2630A>G (p.Asn877Ser)	FNIP1 (N877S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2803920	NM_133372.3(FNIP1):c.2597T>C (p.Met866Thr)	FNIP1 (M821T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2910673	NM_133372.3(FNIP1):c.2584G>A (p.Asp862Asn)	FNIP1 (D834N +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2769963	NM_133372.3(FNIP1):c.2583A>G (p.Lys861=)	FNIP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3006764	NM_133372.3(FNIP1):c.2544T>G (p.Thr848=)	FNIP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2200499	NM_133372.3(FNIP1):c.2533G>A (p.Glu845Lys)	FNIP1 (E800K +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2082849	NM_133372.3(FNIP1):c.2532C>T (p.Ile844=)	FNIP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1909615	NM_133372.3(FNIP1):c.2532C>A (p.Ile844=)	FNIP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2049173	NM_133372.3(FNIP1):c.2530A>G (p.Ile844Val)	FNIP1 (I799V +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2889069	NM_133372.3(FNIP1):c.2520T>C (p.Asn840=)	FNIP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1927832	NM_133372.3(FNIP1):c.2508C>T (p.Asp836=)	FNIP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2995743	NM_133372.3(FNIP1):c.2505C>T (p.Phe835=)	FNIP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2386289	NM_133372.3(FNIP1):c.2477A>G (p.His826Arg)	FNIP1 (H798R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2116300	NM_133372.3(FNIP1):c.2465C>T (p.Pro822Leu)	FNIP1 (P777L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2349300	NM_133372.3(FNIP1):c.2444C>T (p.Ser815Phe)	FNIP1 (S787F +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1903402	NM_133372.3(FNIP1):c.2436C>T (p.Asn812=)	FNIP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2038942	NM_133372.3(FNIP1):c.2427T>C (p.Asp809=)	FNIP1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2554330	NM_133372.3(FNIP1):c.2422T>G (p.Ser808Ala)	FNIP1 (S763A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2047649	NM_133372.3(FNIP1):c.2412A>G (p.Gln804=)	FNIP1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2991523	NM_133372.3(FNIP1):c.2403C>G (p.Thr801=)	FNIP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1901818	NM_133372.3(FNIP1):c.2390C>T (p.Thr797Ile)	FNIP1 (T797I +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2748584	NM_133372.3(FNIP1):c.2385A>G (p.Gln795=)	FNIP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2194613	NM_133372.3(FNIP1):c.2372T>C (p.Ile791Thr)	FNIP1 (I791T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2971049	NM_133372.3(FNIP1):c.2367G>A (p.Gly789=)	FNIP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2184098	NM_133372.3(FNIP1):c.2366G>A (p.Gly789Glu)	FNIP1 (G789E +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1940477	NM_133372.3(FNIP1):c.2356G>A (p.Glu786Lys)	FNIP1 (E741K +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2040599	NM_133372.3(FNIP1):c.2350T>C (p.Leu784=)	FNIP1	Single nucleotide variant (synonymous variant)	not provided	GBenign

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