EPB41L4A[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 151143	GRCh38/hg38 5q14.3-23.3(chr5:90374606-128076423)x1	LOC129994523, LOC129994524 +683 more	Copy number loss	See cases	GPathogenic
Select item 155679	GRCh38/hg38 5q14.3-31.1(chr5:91411708-131319563)x1	LOC126807500, LOC126807501 +689 more	Copy number loss	See cases	GPathogenic
Select item 152734	GRCh38/hg38 5q14.3-23.1(chr5:92899734-119614119)x1	DMXL1, DMXL1-DT +496 more	Copy number loss	See cases	GPathogenic
Select item 155182	GRCh38/hg38 5q15-22.2(chr5:93193104-113287795)x1	APC, ARB2A +343 more	Copy number loss	See cases	GPathogenic
Select item 58098	GRCh38/hg38 5q15-22.3(chr5:96454445-114050905)x3	TSSK1B, WDR36 +275 more	Copy number gain	See cases	GPathogenic
Select item 59671	GRCh38/hg38 5q21.1-22.2(chr5:102373396-113594030)x1	EPB41L4A-DT, APC +180 more	Copy number loss	See cases	GPathogenic
Select item 153994	GRCh38/hg38 5q21.3-22.2(chr5:106586078-113006585)x1	EPB41L4A-DT, APC +134 more	Copy number loss	See cases	GPathogenic
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 146399	GRCh38/hg38 5q21.3-23.1(chr5:107002209-118025316)x1	AP3S1, APC +230 more	Copy number loss	See cases	GPathogenic
Select item 155259	GRCh38/hg38 5q21.3-23.2(chr5:108308463-125777797)x1	LOC129994389, LOC129994390 +340 more	Copy number loss	See cases	GPathogenic
Select item 144331	GRCh38/hg38 5q21.3-23.1(chr5:108585264-116815075)x1	AP3S1, APC +186 more	Copy number loss	See cases	GPathogenic
Select item 150374	GRCh38/hg38 5q22.1-23.3(chr5:110687442-130103838)x1	LOC129389350, LOC129389351 +377 more	Copy number loss	See cases	GPathogenic
Select item 146237	GRCh38/hg38 5q22.1-23.2(chr5:111463016-127193038)x1	ALDH7A1, AP3S1 +317 more	Copy number loss	See cases	GPathogenic
Select item 58789	GRCh38/hg38 5q22.1-22.2(chr5:112161743-112421091)x1	EPB41L4A, EPB41L4A-AS1 +5 more	Copy number loss	See cases	GUncertain significance
Select item 2484636	NM_022140.5(EPB41L4A):c.2029A>G (p.Ile677Val)	EPB41L4A (I677V)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 773173	NM_022140.5(EPB41L4A):c.1997C>T (p.Ala666Val)	EPB41L4A (A666V)	Single nucleotide variant (missense variant +2 more)	not provided	GBenign
Select item 2237567	NM_022140.5(EPB41L4A):c.1962G>C (p.Met654Ile)	EPB41L4A (M654I)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2344869	NM_022140.5(EPB41L4A):c.1956C>G (p.Ser652Arg)	EPB41L4A (S652R)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 790793	NM_022140.5(EPB41L4A):c.1933-9A>G	EPB41L4A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2342043	NM_022140.5(EPB41L4A):c.1925T>G (p.Val642Gly)	EPB41L4A (V642G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2268068	NM_022140.5(EPB41L4A):c.1922C>A (p.Thr641Lys)	EPB41L4A (T641K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3089416	NM_022140.5(EPB41L4A):c.1917T>G (p.Asp639Glu)	EPB41L4A (D639E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 769302	NM_022140.5(EPB41L4A):c.1889= (p.Arg630=)	EPB41L4A	Variation (no sequence alteration +1 more)	not provided	GBenign
Select item 2233049	NM_022140.5(EPB41L4A):c.1882G>T (p.Val628Leu)	EPB41L4A (V628L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2268067	NM_022140.5(EPB41L4A):c.1859C>G (p.Thr620Arg)	EPB41L4A (T620R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2408587	NM_022140.5(EPB41L4A):c.1858A>G (p.Thr620Ala)	EPB41L4A (T620A)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2689016	NM_022140.5(EPB41L4A):c.1850+2dup	EPB41L4A	Duplication (splice donor variant)	not provided	GUncertain significance
Select item 2284696	NM_022140.5(EPB41L4A):c.1828C>G (p.Arg610Gly)	EPB41L4A (R610G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2402403	NM_022140.5(EPB41L4A):c.1802G>A (p.Arg601His)	EPB41L4A (R601H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2218697	NM_022140.5(EPB41L4A):c.1793G>A (p.Arg598His)	EPB41L4A (R598H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 752359	NM_022140.5(EPB41L4A):c.1779G>A (p.Ser593=)	EPB41L4A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2386682	NM_022140.5(EPB41L4A):c.1778C>T (p.Ser593Leu)	EPB41L4A (S593L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2409399	NM_022140.5(EPB41L4A):c.1601G>A (p.Arg534Gln)	EPB41L4A (R534Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2540467	NM_022140.5(EPB41L4A):c.1586A>G (p.Asp529Gly)	EPB41L4A (D529G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 787980	NM_022140.5(EPB41L4A):c.1575A>G (p.Lys525=)	EPB41L4A	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2353119	NM_022140.5(EPB41L4A):c.1523T>C (p.Met508Thr)	EPB41L4A (M508T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3275775	NM_022140.5(EPB41L4A):c.1507C>T (p.Arg503Trp)	EPB41L4A (R503W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 714299	NM_022140.5(EPB41L4A):c.1395T>A (p.Gly465=)	EPB41L4A	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2460179	NM_022140.5(EPB41L4A):c.1330C>T (p.Pro444Ser)	EPB41L4A (P444S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 708907	NM_022140.5(EPB41L4A):c.1322G>A (p.Arg441His)	EPB41L4A (R441H)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2359270	NM_022140.5(EPB41L4A):c.1312T>C (p.Tyr438His)	EPB41L4A (Y438H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 787619	NM_022140.5(EPB41L4A):c.1303A>G (p.Lys435Glu)	EPB41L4A (K435E)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 183292	NM_022140.5(EPB41L4A):c.1298C>T (p.Ser433Leu)	EPB41L4A (S433L)	Single nucleotide variant (missense variant +1 more)	Failure to thrive +1 more	GLikely pathogenic
Select item 3089413	NM_022140.5(EPB41L4A):c.1232A>C (p.His411Pro)	EPB41L4A (H411P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3275776	NM_022140.5(EPB41L4A):c.1172T>C (p.Val391Ala)	EPB41L4A (V391A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3089412	NM_022140.5(EPB41L4A):c.1121T>C (p.Met374Thr)	EPB41L4A (M374T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2277442	NM_022140.5(EPB41L4A):c.1025A>G (p.Gln342Arg)	EPB41L4A, LOC101927023 (Q342R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2238600	NM_022140.5(EPB41L4A):c.1018C>T (p.Pro340Ser)	EPB41L4A, LOC101927023 (P340S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2402141	NM_022140.5(EPB41L4A):c.1016G>A (p.Arg339Gln)	EPB41L4A, LOC101927023 (R339Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2349620	NM_022140.5(EPB41L4A):c.1007A>G (p.Gln336Arg)	EPB41L4A, LOC101927023 (Q336R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3275772	NM_022140.5(EPB41L4A):c.1004T>C (p.Ile335Thr)	EPB41L4A, LOC101927023 (I335T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2266729	NM_022140.5(EPB41L4A):c.997C>G (p.Leu333Val)	EPB41L4A, LOC101927023 (L333V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2344694	NM_022140.5(EPB41L4A):c.992G>A (p.Arg331Gln)	EPB41L4A, LOC101927023 (R331Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3089422	NM_022140.5(EPB41L4A):c.947G>A (p.Arg316His)	EPB41L4A, LOC101927023 (R316H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2534703	NM_022140.5(EPB41L4A):c.905C>G (p.Ser302Cys)	EPB41L4A, LOC101927023 (S302C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 713857	NM_022140.5(EPB41L4A):c.879A>G (p.Thr293=)	EPB41L4A, LOC101927023	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign/Likely benign
Select item 2306240	NM_022140.5(EPB41L4A):c.862A>G (p.Ser288Gly)	EPB41L4A, LOC101927023 (S288G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3275771	NM_022140.5(EPB41L4A):c.844A>G (p.Lys282Glu)	EPB41L4A, LOC101927023 (K282E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2470470	NM_022140.5(EPB41L4A):c.803A>G (p.Glu268Gly)	EPB41L4A, LOC101927023 (E268G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3275774	NM_022140.5(EPB41L4A):c.794A>T (p.Asp265Val)	EPB41L4A (D265V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3089421	NM_022140.5(EPB41L4A):c.791A>G (p.Lys264Arg)	EPB41L4A (K264R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2461401	NM_022140.5(EPB41L4A):c.694G>A (p.Val232Met)	EPB41L4A (V232M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2221720	NM_022140.5(EPB41L4A):c.689T>G (p.Val230Gly)	EPB41L4A (V230G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3089420	NM_022140.5(EPB41L4A):c.660G>C (p.Glu220Asp)	EPB41L4A (E220D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2363414	NM_022140.5(EPB41L4A):c.649A>G (p.Asn217Asp)	EPB41L4A (N217D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 598224	NM_022140.5(EPB41L4A):c.637G>A (p.Val213Ile)	EPB41L4A (V213I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2245948	NM_022140.5(EPB41L4A):c.635C>T (p.Pro212Leu)	EPB41L4A (P212L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2394667	NM_022140.5(EPB41L4A):c.622G>A (p.Val208Ile)	EPB41L4A (V208I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 776054	NM_022140.5(EPB41L4A):c.529A>G (p.Ile177Val)	EPB41L4A (I177V)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2227386	NM_022140.5(EPB41L4A):c.437A>C (p.Glu146Ala)	EPB41L4A (E146A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3089419	NM_022140.5(EPB41L4A):c.379C>G (p.Arg127Gly)	EPB41L4A (R127G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3089418	NM_022140.5(EPB41L4A):c.375G>C (p.Gln125His)	EPB41L4A (Q125H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2655633	NM_022140.5(EPB41L4A):c.309A>G (p.Pro103=)	EPB41L4A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2482910	NM_022140.5(EPB41L4A):c.305A>G (p.Asp102Gly)	EPB41L4A (D102G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3089417	NM_022140.5(EPB41L4A):c.302A>C (p.Glu101Ala)	EPB41L4A (E101A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2655634	NM_022140.5(EPB41L4A):c.299C>T (p.Ala100Val)	EPB41L4A (A100V)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2382213	NM_022140.5(EPB41L4A):c.269A>G (p.Tyr90Cys)	EPB41L4A (Y90C)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 2592054	NM_022140.5(EPB41L4A):c.254A>T (p.Asn85Ile)	EPB41L4A (N85I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2347188	NM_022140.5(EPB41L4A):c.215A>G (p.Asp72Gly)	EPB41L4A (D72G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2265175	NM_022140.5(EPB41L4A):c.199C>G (p.Gln67Glu)	EPB41L4A (Q67E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2220953	NM_022140.5(EPB41L4A):c.187G>A (p.Asp63Asn)	EPB41L4A (D63N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3089415	NM_022140.5(EPB41L4A):c.184T>C (p.Cys62Arg)	EPB41L4A (C62R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3275773	NM_022140.5(EPB41L4A):c.133G>T (p.Val45Leu)	EPB41L4A (V45L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2323349	NM_022140.5(EPB41L4A):c.118G>A (p.Val40Ile)	EPB41L4A (V40I)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2608951	NM_022140.5(EPB41L4A):c.109A>G (p.Lys37Glu)	EPB41L4A (K37E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2325858	NM_022140.5(EPB41L4A):c.109A>C (p.Lys37Gln)	EPB41L4A (K37Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 152168	GRCh38/hg38 5q22.2-23.1(chr5:112323517-117773507)x1	AP3S1, DCP2 +119 more	Copy number loss	See cases	GPathogenic
Select item 2288705	NM_022140.5(EPB41L4A):c.41A>G (p.Glu14Gly)	EPB41L4A (E14G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2267385	NM_022140.5(EPB41L4A):c.31T>C (p.Phe11Leu)	EPB41L4A (F11L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3062848	GRCh37/hg19 5q15-23.2(chr5:93828571-123711334)x1	AP3S1, APC +80 more	Copy number loss	not specified	GPathogenic
Select item 2671613	Single allele	CAMK4, EFNA5 +11 more	Deletion	not provided	GUncertain significance
Select item 1808081	GRCh37/hg19 5q22.1-22.2(chr5:111424127-111508288)x1	EPB41L4A	Copy number loss	not provided	GUncertain significance
Select item 1527187	GRCh37/hg19 5q22.2-22.3(chr5:111676467-113755797)	TSSK1B, YTHDC2 +7 more	Copy number loss	not specified	GPathogenic
Select item 1527186	GRCh37/hg19 5q22.1-23.1(chr5:111443783-116255660)	AP3S1, APC +21 more	Copy number loss	not specified	GPathogenic
Select item 1527183	GRCh37/hg19 5q21.1-23.2(chr5:100607918-125900735)	CAMK4, CCDC112 +60 more	Copy number loss	not specified	GPathogenic
Select item 1527179	GRCh37/hg19 5q15-22.3(chr5:93650000-114969108)	DCP2, EFNA5 +56 more	Copy number loss	not specified	GPathogenic
Select item 1340772	GRCh37/hg19 5q22.2(chr5:111555433-111761296)x1	EPB41L4A	Copy number loss	not provided	GUncertain significance
Select item 980734	GRCh37/hg19 5q22.2(chr5:111583191-111851582)x1	EPB41L4A	Copy number loss	not provided	GUncertain significance
Select item 980179	GRCh37/hg19 5q22.2(chr5:111666770-111909841)x1	EPB41L4A	Copy number loss	not provided	GUncertain significance
Select item 980178	GRCh37/hg19 5q22.1-22.2(chr5:111420575-112116548)x3	APC, EPB41L4A	Copy number gain	not provided	GUncertain significance

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