9147[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC126862060, LOC126862061 +3282 more	Copy number gain	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	LOC125048449, LOC125048450 +3277 more	Copy number gain	See cases	GPathogenic
Select item 152063	GRCh38/hg38 14q21.1-22.3(chr14:39196172-56714461)x3	ABHD12B, ARF6 +394 more	Copy number gain	See cases	GLikely pathogenic
Select item 2341262	NM_014315.3(KLHDC2):c.982G>A (p.Asp328Asn)	KLHDC2, NEMF (D328N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2362976	NM_014315.3(KLHDC2):c.1096C>T (p.Arg366Trp)	KLHDC2, NEMF (R366W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2547555	NM_014315.3(KLHDC2):c.1147T>C (p.Trp383Arg)	KLHDC2, NEMF (W383R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2255084	NM_014315.3(KLHDC2):c.1152C>A (p.Asn384Lys)	KLHDC2, NEMF (N384K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2644214	NM_004713.6(NEMF):c.3195G>T (p.Val1065=)	KLHDC2, NEMF	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2375362	NM_004713.6(NEMF):c.3161A>G (p.Asp1054Gly)	KLHDC2, NEMF (D1033G +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 779679	NM_004713.6(NEMF):c.3126A>G (p.Arg1042=)	KLHDC2, NEMF	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 2328157	NM_004713.6(NEMF):c.3119C>T (p.Thr1040Ile)	KLHDC2, NEMF (T1019I +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2289211	NM_004713.6(NEMF):c.3103C>T (p.His1035Tyr)	KLHDC2, NEMF (H1014Y +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2289129	NM_004713.6(NEMF):c.3102G>A (p.Met1034Ile)	KLHDC2, NEMF (M1034I +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2560123	NM_004713.6(NEMF):c.3101T>C (p.Met1034Thr)	KLHDC2, NEMF (M1034T +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2529277	NM_004713.6(NEMF):c.2987C>T (p.Ala996Val)	KLHDC2, NEMF (A975V +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2432191	NM_004713.6(NEMF):c.2943_2950del (p.Ser982fs)	KLHDC2, NEMF (S961fs +1 more)	Deletion (3 prime UTR variant +1 more)	Intellectual developmental disorder with speech delay and axonal peripheral neuropathy	GLikely pathogenic
Select item 3193373	NM_004713.6(NEMF):c.2936T>C (p.Leu979Pro)	KLHDC2, NEMF (L958P +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2378696	NM_004713.6(NEMF):c.2924A>T (p.Asn975Ile)	NEMF (N954I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2220745	NM_004713.6(NEMF):c.2917C>G (p.Gln973Glu)	NEMF (Q973E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3193364	NM_004713.6(NEMF):c.2876A>G (p.Asp959Gly)	NEMF (D938G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 986402	NM_004713.6(NEMF):c.2871_2875dup (p.Asp959delinsValTer)	NEMF	Duplication (nonsense)	See cases	GPathogenic
Select item 2235071	NM_004713.6(NEMF):c.2845A>G (p.Ile949Val)	NEMF (I928V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3058114	NM_004713.6(NEMF):c.2832G>A (p.Pro944=)	NEMF	Single nucleotide variant (synonymous variant)	NEMF-related disorder	GLikely benign
Select item 3299275	NM_004713.6(NEMF):c.2804T>A (p.Val935Asp)	NEMF (V914D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3193356	NM_004713.6(NEMF):c.2786C>T (p.Pro929Leu)	NEMF (P908L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 973823	NM_004713.6(NEMF):c.2777C>T (p.Pro926Leu)	NEMF (P905L +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 973828	NM_004713.6(NEMF):c.2768del (p.Lys923fs)	NEMF (K902fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2562609	NM_004713.6(NEMF):c.2681T>C (p.Ile894Thr)	NEMF (I873T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 986403	NM_004713.6(NEMF):c.2618del (p.Lys873fs)	NEMF (K852fs +1 more)	Deletion (frameshift variant)	Intellectual developmental disorder with speech delay and axonal peripheral neuropathy	GPathogenic
Select item 986400	NM_004713.6(NEMF):c.2608C>T (p.Arg870Ter)	NEMF (R870* +1 more)	Single nucleotide variant (nonsense)	Intellectual developmental disorder with speech delay and axonal peripheral neuropathy	GPathogenic
Select item 3342433	NM_004713.6(NEMF):c.2587dup (p.Ala863fs)	NEMF (A842fs +1 more)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 2582920	NM_004713.6(NEMF):c.2580A>C (p.Lys860Asn)	NEMF (K839N +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2516440	NM_004713.6(NEMF):c.2573C>T (p.Thr858Ile)	NEMF (T858I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2644215	NM_004713.6(NEMF):c.2565T>C (p.His855=)	NEMF	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2644216	NM_004713.6(NEMF):c.2514G>A (p.Ala838=)	NEMF	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2547187	NM_004713.6(NEMF):c.2489C>T (p.Pro830Leu)	NEMF (P830L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2075049	NM_004713.6(NEMF):c.2484dup (p.Leu829fs)	NEMF (L808fs +1 more)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 3033116	NM_004713.6(NEMF):c.2451A>T (p.Ser817=)	NEMF	Single nucleotide variant (synonymous variant)	NEMF-related disorder	GLikely benign
Select item 219305	NM_004713.6(NEMF):c.2431_2432del (p.Gln811fs)	NEMF (Q811fs +1 more)	Microsatellite (frameshift variant)	Malignant tumor of prostate	GUncertain significance
Select item 3299274	NM_004713.6(NEMF):c.2419G>A (p.Asp807Asn)	NEMF (D786N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2385943	NM_004713.6(NEMF):c.2398G>C (p.Glu800Gln)	NEMF (E800Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2391665	NM_004713.6(NEMF):c.2353T>C (p.Ser785Pro)	NEMF (S785P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3372519	NM_004713.6(NEMF):c.2333C>T (p.Pro778Leu)	NEMF (P757L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2232907	NM_004713.6(NEMF):c.2317G>A (p.Glu773Lys)	NEMF (E752K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2333116	NM_004713.6(NEMF):c.2261A>G (p.Tyr754Cys)	NEMF (Y754C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2320792	NM_004713.6(NEMF):c.2108C>T (p.Thr703Met)	NEMF (T703M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2270975	NM_004713.6(NEMF):c.2101G>C (p.Gly701Arg)	NEMF (G680R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1334763	NM_004713.6(NEMF):c.2096-2A>G	NEMF	Single nucleotide variant (splice acceptor variant)	Intellectual developmental disorder with speech delay and axonal peripheral neuropathy	GLikely pathogenic
Select item 3299271	NM_004713.6(NEMF):c.2083A>G (p.Met695Val)	NEMF (M674V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2265377	NM_004713.6(NEMF):c.2071A>G (p.Ile691Val)	NEMF (I691V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1319076	NM_004713.6(NEMF):c.2068del (p.Leu690fs)	NEMF (L669fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2410827	NM_004713.6(NEMF):c.2020dup (p.Arg674fs)	NEMF (R674fs +1 more)	Duplication (frameshift variant)	Inborn genetic diseases	GPathogenic
Select item 986401	NM_004713.6(NEMF):c.2014A>T (p.Lys672Ter)	NEMF (K672* +1 more)	Single nucleotide variant (nonsense)	Intellectual developmental disorder with speech delay and axonal peripheral neuropathy	GPathogenic
Select item 973826	NM_004713.6(NEMF):c.2011C>T (p.Arg671Ter)	NEMF (R650* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 3193314	NM_004713.6(NEMF):c.1975G>A (p.Val659Ile)	NEMF (V638I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3299276	NM_004713.6(NEMF):c.1933C>T (p.Pro645Ser)	NEMF (P624S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3025365	NM_004713.6(NEMF):c.1915+8C>T	NEMF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3193311	NM_004713.6(NEMF):c.1876A>G (p.Thr626Ala)	NEMF (T626A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2644217	NM_004713.6(NEMF):c.1858-8T>A	NEMF	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3364860	NM_004713.6(NEMF):c.1762C>T (p.Arg588Trp)	NEMF (R567W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3193307	NM_004713.6(NEMF):c.1757C>T (p.Pro586Leu)	NEMF (P565L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3041851	NM_004713.6(NEMF):c.1755C>A (p.Ile585=)	NEMF	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3040295	NM_004713.6(NEMF):c.1752C>T (p.Pro584=)	NEMF	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3193304	NM_004713.6(NEMF):c.1750C>T (p.Pro584Ser)	NEMF (P563S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2644218	NM_004713.6(NEMF):c.1745-1265_1745-1260del	NEMF	Deletion (intron variant)	not provided	GBenign
Select item 2644219	NM_004713.6(NEMF):c.1745-1267T>C	NEMF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1696457	NM_004713.6(NEMF):c.1744+6A>G	NEMF	Single nucleotide variant (intron variant)	Intellectual developmental disorder with speech delay and axonal peripheral neuropathy	GUncertain significance
Select item 3299277	NM_004713.6(NEMF):c.1717A>G (p.Thr573Ala)	NEMF (T573A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1335143	NM_004713.6(NEMF):c.1710T>C (p.His570=)	NEMF	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2540590	NM_004713.6(NEMF):c.1684G>A (p.Asp562Asn)	NEMF (D562N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1801911	NM_004713.6(NEMF):c.1649A>G (p.Asn550Ser)	NEMF (N550S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3033381	NM_004713.6(NEMF):c.1512A>G (p.Lys504=)	NEMF	Single nucleotide variant (synonymous variant)	NEMF-related disorder	GLikely benign
Select item 3049079	NM_004713.6(NEMF):c.1446T>C (p.Tyr482=)	NEMF	Single nucleotide variant (synonymous variant)	NEMF-related disorder	GLikely benign
Select item 3193297	NM_004713.6(NEMF):c.1426T>C (p.Tyr476His)	NEMF (Y476H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2136466	NM_004713.6(NEMF):c.1410T>G (p.Tyr470Ter)	NEMF (Y470*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2612970	NM_004713.6(NEMF):c.1409A>T (p.Tyr470Phe)	NEMF (Y470F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2406871	NM_004713.6(NEMF):c.1370A>G (p.Lys457Arg)	NEMF (K457R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2630635	NM_004713.6(NEMF):c.1336_1340del (p.Gln445_Lys446insTer)	NEMF	Deletion (nonsense)	NEMF-related disorder	GLikely pathogenic
Select item 2153920	NM_004713.6(NEMF):c.1334_1337del (p.Gln445fs)	NEMF (Q445fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2361360	NM_004713.6(NEMF):c.1285A>C (p.Asn429His)	NEMF (N429H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2229720	NM_004713.6(NEMF):c.1271_1276del (p.Val424_Asp425del)	NEMF	Deletion (inframe_deletion)	Inborn genetic diseases	GUncertain significance
Select item 2207965	NM_004713.6(NEMF):c.1245G>C (p.Leu415Phe)	NEMF (L415F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 992634	NM_004713.6(NEMF):c.1235_1236insC (p.Pro413fs)	NEMF (P413fs)	Insertion (frameshift variant)	Intellectual developmental disorder with speech delay and axonal peripheral neuropathy	GPathogenic
Select item 986405	NM_004713.6(NEMF):c.1234_1235insC (p.Asn412fs)	NEMF (N412fs)	Insertion (frameshift variant)	Intellectual developmental disorder with speech delay and axonal peripheral neuropathy	GPathogenic
Select item 3044123	NM_004713.6(NEMF):c.1232+4A>G	NEMF	Single nucleotide variant (intron variant)	NEMF-related disorder	GLikely benign
Select item 2592110	NM_004713.6(NEMF):c.1231A>G (p.Arg411Gly)	NEMF (R411G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3193273	NM_004713.6(NEMF):c.1183G>A (p.Ala395Thr)	NEMF (A395T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3044325	NM_004713.6(NEMF):c.1158G>A (p.Gln386=)	NEMF	Single nucleotide variant (synonymous variant)	NEMF-related disorder	GLikely benign
Select item 2473624	NM_004713.6(NEMF):c.1132A>G (p.Ile378Val)	NEMF (I378V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3299270	NM_004713.6(NEMF):c.1082C>T (p.Ala361Val)	NEMF (A361V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3063692	NM_004713.6(NEMF):c.1066C>T (p.Gln356Ter)	NEMF (Q356*)	Single nucleotide variant (nonsense)	Intellectual developmental disorder with speech delay and axonal peripheral neuropathy	GPathogenic
Select item 2530580	NM_004713.6(NEMF):c.1040A>G (p.Lys347Arg)	NEMF (K347R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2382938	NM_004713.6(NEMF):c.991G>A (p.Glu331Lys)	NEMF (E331K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 973824	NM_004713.6(NEMF):c.980G>A (p.Arg327Gln)	NEMF (R327Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2456389	NM_004713.6(NEMF):c.914G>A (p.Gly305Asp)	NEMF (G305D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2484338	NM_004713.6(NEMF):c.884C>T (p.Ala295Val)	NEMF (A295V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3043431	NM_004713.6(NEMF):c.846A>C (p.Ser282=)	NEMF	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2483091	NM_004713.6(NEMF):c.836C>T (p.Ser279Phe)	NEMF (S279F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2549316	NM_004713.6(NEMF):c.832T>A (p.Phe278Ile)	NEMF (F278I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 931494	NM_004713.6(NEMF):c.807-2A>C	NEMF	Single nucleotide variant (splice acceptor variant)	See cases	GLikely pathogenic

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