ClinVar for Gene (Select 23630) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3366901	NC_000023.10:g.(?_54610638)_(154689386_?)dup	ABCB7, ABCD1 +526 more	Duplication	Hereditary factor VIII deficiency disease	GUncertain significance
Select item 3337199	NM_012282.4(KCNE5):c.143G>T (p.Gly48Val)	KCNE5 (G48V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3287558	NM_012282.4(KCNE5):c.205T>G (p.Phe69Val)	KCNE5 (F69V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3287557	NM_012282.4(KCNE5):c.28C>A (p.Arg10=)	KCNE5	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3242589	GRCh38/hg38 Xp22.33-q28(chrX:2757837-156030895)x2	LOC130068417, LOC130068418 +2599 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 3226222	NM_012282.4(KCNE5):c.66C>T (p.His22=)	KCNE5	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3113149	NM_012282.4(KCNE5):c.202A>G (p.Ile68Val)	KCNE5 (I68V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113147	NM_012282.4(KCNE5):c.15G>C (p.Glu5Asp)	KCNE5 (E5D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062473	GRCh37/hg19 Xq22.2-28(chrX:103405294-155233731)	ABCD1, ACSL4 +321 more	Copy number loss	not specified	GPathogenic
Select item 3024654	GRCh37/hg19 Xq12-28(chrX:67292994-155240074)x3	CT47A5, NXF3 +488 more	Copy number gain	not provided	GPathogenic
Select item 2968534	NM_012282.4(KCNE5):c.81C>T (p.Ser27=)	KCNE5	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 2960571	NM_012282.4(KCNE5):c.124G>A (p.Val42Met)	KCNE5 (V42M)	Single nucleotide variant (missense variant)	Brugada syndrome	GUncertain significance
Select item 2912439	NM_012282.4(KCNE5):c.135T>C (p.Pro45=)	KCNE5	Single nucleotide variant (synonymous variant)	Brugada syndrome	GLikely benign
Select item 2891432	NM_012282.4(KCNE5):c.322G>A (p.Ala108Thr)	KCNE5 (A108T)	Single nucleotide variant (missense variant)	Brugada syndrome	GUncertain significance
Select item 2888035	NM_012282.4(KCNE5):c.79A>G (p.Ser27Gly)	KCNE5 (S27G)	Single nucleotide variant (missense variant)	Brugada syndrome	GUncertain significance
Select item 2824314	NM_012282.4(KCNE5):c.13del (p.Glu5fs)	KCNE5 (E5fs)	Deletion (frameshift variant)	Brugada syndrome	GUncertain significance
Select item 2810031	NM_012282.4(KCNE5):c.227G>A (p.Gly76Asp)	KCNE5 (G76D)	Single nucleotide variant (missense variant)	Brugada syndrome	GUncertain significance
Select item 2786178	NM_012282.4(KCNE5):c.203T>C (p.Ile68Thr)	KCNE5 (I68T)	Single nucleotide variant (missense variant)	Brugada syndrome	GUncertain significance
Select item 2747065	NM_012282.4(KCNE5):c.29G>T (p.Arg10Leu)	KCNE5 (R10L)	Single nucleotide variant (missense variant)	Brugada syndrome	GUncertain significance
Select item 2737355	NM_012282.4(KCNE5):c.193C>T (p.Leu65Phe)	KCNE5 (L65F)	Single nucleotide variant (missense variant)	Brugada syndrome	GUncertain significance
Select item 2731482	NM_012282.4(KCNE5):c.283T>C (p.Ser95Pro)	KCNE5 (S95P)	Single nucleotide variant (missense variant)	Brugada syndrome	GUncertain significance
Select item 2729348	NM_012282.4(KCNE5):c.54C>T (p.Leu18=)	KCNE5	Single nucleotide variant (synonymous variant)	Brugada syndrome +1 more	GLikely benign
Select item 2712325	NM_012282.4(KCNE5):c.254G>A (p.Arg85His)	KCNE5 (R85H)	Single nucleotide variant (missense variant)	Brugada syndrome	GUncertain significance
Select item 2685715	GRCh37/hg19 Xq21.31-25(chrX:91274467-126799984)x1	ACSL4, AGTR2 +175 more	Copy number loss	not provided	GPathogenic
Select item 2684996	GRCh37/hg19 Xq21.1-24(chrX:77212972-118576590)x3	ACSL4, AGTR2 +159 more	Copy number gain	not provided	GPathogenic
Select item 2626405	NM_012282.4(KCNE5):c.403C>G (p.Leu135Val)	KCNE5 (L135V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598706	NM_012282.4(KCNE5):c.401C>A (p.Ala134Asp)	KCNE5 (A134D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2564613	NM_012282.4(KCNE5):c.330C>G (p.Thr110=)	KCNE5	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2554516	NM_012282.4(KCNE5):c.20A>G (p.Gln7Arg)	KCNE5 (Q7R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2507826	NM_012282.4(KCNE5):c.70G>A (p.Gly24Ser)	KCNE5 (G24S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2506546	GRCh37/hg19 Xp22.33-q28(chrX:200855-155240074)	ABCB7, ABCD1 +818 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 2480086	NM_012282.4(KCNE5):c.256A>G (p.Lys86Glu)	KCNE5 (K86E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2449947	NM_012282.4(KCNE5):c.346G>T (p.Ala116Ser)	KCNE5 (A116S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2449946	NM_012282.4(KCNE5):c.330C>T (p.Thr110=)	KCNE5	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2425791	NC_000023.10:g.(?_108867821)_(108868249_?)del	KCNE5	Deletion	Brugada syndrome	GUncertain significance
Select item 2424529	NC_000023.10:g.(?_106046084)_(108868249_?)del	ATG4A, CLDN2 +19 more	Deletion	Charcot-Marie-Tooth Neuropathy X	GPathogenic
Select item 2419287	NM_012282.4(KCNE5):c.100C>T (p.Arg34Cys)	KCNE5 (R34C)	Single nucleotide variant (missense variant)	Brugada syndrome	GUncertain significance
Select item 2349913	NM_012282.4(KCNE5):c.223G>A (p.Gly75Arg)	KCNE5 (G75R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325843	NM_012282.4(KCNE5):c.61C>T (p.His21Tyr)	KCNE5 (H21Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279985	NM_012282.4(KCNE5):c.410A>G (p.Gln137Arg)	KCNE5 (Q137R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2196997	NM_012282.4(KCNE5):c.186C>T (p.Tyr62=)	KCNE5	Single nucleotide variant (synonymous variant)	Brugada syndrome	GLikely benign
Select item 2196559	NM_012282.4(KCNE5):c.327G>C (p.Leu109=)	KCNE5	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 2078643	NM_012282.4(KCNE5):c.265G>A (p.Glu89Lys)	KCNE5 (E89K)	Single nucleotide variant (missense variant)	Brugada syndrome	GUncertain significance
Select item 2075298	NM_012282.4(KCNE5):c.264C>T (p.Val88=)	KCNE5	Single nucleotide variant (synonymous variant)	Brugada syndrome	GLikely benign
Select item 2038831	NM_012282.4(KCNE5):c.351G>A (p.Ala117=)	KCNE5	Single nucleotide variant (synonymous variant)	Brugada syndrome	GLikely benign
Select item 2037852	NM_012282.4(KCNE5):c.358C>T (p.Gln120Ter)	KCNE5 (Q120*)	Single nucleotide variant (nonsense)	not provided +1 more	GUncertain significance
Select item 1986093	NM_012282.4(KCNE5):c.139G>C (p.Val47Leu)	KCNE5 (V47L)	Single nucleotide variant (missense variant)	Brugada syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1966470	NM_012282.4(KCNE5):c.339C>T (p.Ala113=)	KCNE5	Single nucleotide variant (synonymous variant)	Brugada syndrome +1 more	GLikely benign
Select item 1958262	NM_012282.4(KCNE5):c.64C>T (p.His22Tyr)	KCNE5 (H22Y)	Single nucleotide variant (missense variant)	Brugada syndrome	GUncertain significance
Select item 1913506	NM_012282.4(KCNE5):c.374G>A (p.Arg125His)	KCNE5 (R125H)	Single nucleotide variant (missense variant)	Brugada syndrome	GUncertain significance
Select item 1808673	GRCh37/hg19 Xq21.33-24(chrX:93805850-118913329)x1	ACSL4, AGTR2 +133 more	Copy number loss	not provided	GPathogenic
Select item 1776079	NM_012282.4(KCNE5):c.159C>A (p.Ser53Arg)	KCNE5 (S53R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1757176	NM_012282.4(KCNE5):c.70G>C (p.Gly24Arg)	KCNE5 (G24R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1738980	NM_012282.4(KCNE5):c.423G>A (p.Arg141=)	KCNE5	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1710513	GRCh37/hg19 Xq21.1-24(chrX:76794355-119282836)x3	CAPN6, CENPI +176 more	Copy number gain	not provided	GPathogenic
Select item 1707442	GRCh37/hg19 Xp22.2-q28(chrX:11522765-155233731)x1	ABCB7, ABCD1 +790 more	Copy number loss	See cases	GPathogenic
Select item 1706520	GRCh37/hg19 Xq21.1-28(chrX:77670699-155233731)x1	NXF5, NXT2 +414 more	Copy number loss	See cases	GPathogenic
Select item 1704345	GRCh37/hg19 Xp22.33-q28(chrX:61545-155226048)x2	ABCB7, ABCD1 +818 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 1703584	GRCh37/hg19 Xq11.1-28(chrX:62685885-155233731)	ABCB7, ABCD1 +501 more	Copy number loss	Turner syndrome	GPathogenic
Select item 1703580	GRCh37/hg19 Xp22.33-q28(chrX:1-155270560)	ABCB7, ABCD1 +819 more	Copy number loss	Turner syndrome	GPathogenic
Select item 1703579	GRCh37/hg19 Xp22.33-q28(chrX:1-155270560)	AKAP14, CT47A11 +819 more	Copy number gain	Hypotonia +2 more	GPathogenic
Select item 1616193	NM_012282.4(KCNE5):c.24G>T (p.Arg8=)	KCNE5	Single nucleotide variant (synonymous variant)	Brugada syndrome	GLikely benign
Select item 1593076	NM_012282.4(KCNE5):c.396G>C (p.Leu132=)	KCNE5	Single nucleotide variant (synonymous variant)	Brugada syndrome	GLikely benign
Select item 1592094	NM_012282.4(KCNE5):c.387C>G (p.Ser129=)	KCNE5	Single nucleotide variant (synonymous variant)	Brugada syndrome	GLikely benign
Select item 1547171	NM_012282.4(KCNE5):c.315G>A (p.Pro105=)	KCNE5	Single nucleotide variant (synonymous variant)	Brugada syndrome	GLikely benign
Select item 1526841	GRCh37/hg19 Xq23(chrX:108739103-109292915)	ACSL4, KCNE5 +2 more	Copy number gain	not specified	GUncertain significance
Select item 1526838	GRCh37/hg19 Xq22.2-23(chrX:103158718-111556067)	ACSL4, ALG13 +45 more	Copy number gain	not specified	GPathogenic
Select item 1526834	GRCh37/hg19 Xq22.1-24(chrX:101982475-116885339)	ACSL4, AGTR2 +77 more	Copy number gain	not specified	GPathogenic
Select item 1513134	NM_012282.4(KCNE5):c.262G>A (p.Val88Ile)	KCNE5 (V88I)	Single nucleotide variant (missense variant)	Brugada syndrome	GUncertain significance
Select item 1502088	NM_012282.4(KCNE5):c.276_277delinsAT (p.Asp92_Glu93delinsGluTer)	KCNE5	Indel (nonsense)	Brugada syndrome	GUncertain significance
Select item 1492489	NM_012282.4(KCNE5):c.336C>A (p.Asp112Glu)	KCNE5 (D112E)	Single nucleotide variant (missense variant)	Brugada syndrome	GUncertain significance
Select item 1480735	NM_012282.4(KCNE5):c.397C>T (p.Pro133Ser)	KCNE5 (P133S)	Single nucleotide variant (missense variant)	Brugada syndrome	GUncertain significance
Select item 1476645	NM_012282.4(KCNE5):c.371G>T (p.Arg124Leu)	KCNE5 (R124L)	Single nucleotide variant (missense variant)	Brugada syndrome	GUncertain significance
Select item 1472078	NM_012282.4(KCNE5):c.297_301del (p.Glu100fs)	KCNE5 (E100fs)	Deletion (frameshift variant)	Brugada syndrome	GUncertain significance
Select item 1442298	NM_012282.4(KCNE5):c.286C>G (p.Gln96Glu)	KCNE5 (Q96E)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1420311	NM_012282.4(KCNE5):c.203TCT[1] (p.Phe69del)	KCNE5 (F69del)	Microsatellite (inframe_deletion)	Brugada syndrome	GUncertain significance
Select item 1418309	NM_012282.4(KCNE5):c.71G>A (p.Gly24Asp)	KCNE5 (G24D)	Single nucleotide variant (missense variant)	Brugada syndrome	GUncertain significance
Select item 1418161	NM_012282.4(KCNE5):c.179A>G (p.Tyr60Cys)	KCNE5 (Y60C)	Single nucleotide variant (missense variant)	Brugada syndrome	GUncertain significance
Select item 1410843	NM_012282.4(KCNE5):c.337_338delinsAA (p.Ala113Asn)	KCNE5 (A113N)	Indel (missense variant)	Brugada syndrome	GUncertain significance
Select item 1358440	NM_012282.4(KCNE5):c.329C>A (p.Thr110Asn)	KCNE5 (T110N)	Single nucleotide variant (missense variant)	Brugada syndrome	GUncertain significance
Select item 1355515	NM_012282.4(KCNE5):c.281C>G (p.Pro94Arg)	KCNE5 (P94R)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1341233	GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1	RADX, RAI2 +818 more	Copy number loss	not provided	GPathogenic
Select item 1341223	GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3	GPM6B, KLHL15 +818 more	Copy number gain	not provided	GPathogenic
Select item 1328107	GRCh37/hg19 Xq22.3-23(chrX:104782507-112949573)x2	ACSL4, ALG13 +39 more	Copy number gain	not provided	GLikely pathogenic
Select item 1318086	NM_012282.4(KCNE5):c.*258C>T	KCNE5	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 1316673	NM_012282.4(KCNE5):c.-2C>A	KCNE5	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 1209858	GRCh37/hg19 Xq21.32-23(chrX:91829757-113050225)x1	BEX3, BEX4 +110 more	Copy number loss	Xq21.32q23 deletion	GPathogenic
Select item 1180551	GRCh37/hg19 Xp22.33-q28(chrX:60000-155234966)x1	KLHL34, KLHL4 +818 more	Copy number loss	not provided	GPathogenic
Select item 1180512	GRCh37/hg19 Xq22.3-23(chrX:108168780-109606201)x0	ACSL4, AMMECR1 +4 more	Copy number loss	not provided	GPathogenic
Select item 1169942	NM_012282.4(KCNE5):c.333C>T (p.Ala111=)	KCNE5	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 1164998	NM_012282.4(KCNE5):c.210C>T (p.Tyr70=)	KCNE5	Single nucleotide variant (synonymous variant)	Brugada syndrome +2 more	GBenign/Likely benign
Select item 1159808	NM_012282.4(KCNE5):c.168C>T (p.Gly56=)	KCNE5	Single nucleotide variant (synonymous variant)	Brugada syndrome +1 more	GLikely benign
Select item 1156844	NM_012282.4(KCNE5):c.285C>T (p.Ser95=)	KCNE5	Single nucleotide variant (synonymous variant)	Brugada syndrome	GLikely benign
Select item 1148161	NM_012282.4(KCNE5):c.33C>T (p.Thr11=)	KCNE5	Single nucleotide variant (synonymous variant)	Brugada syndrome	GLikely benign
Select item 1131417	NM_012282.4(KCNE5):c.49T>C (p.Leu17=)	KCNE5	Single nucleotide variant (synonymous variant)	Brugada syndrome	GLikely benign
Select item 1080727	NM_012282.4(KCNE5):c.147C>T (p.Arg49=)	KCNE5	Single nucleotide variant (synonymous variant)	Brugada syndrome	GLikely benign
Select item 1053085	NM_012282.4(KCNE5):c.349G>A (p.Ala117Thr)	KCNE5 (A117T)	Single nucleotide variant (missense variant)	Brugada syndrome	GUncertain significance
Select item 1051746	NM_012282.4(KCNE5):c.304G>A (p.Glu102Lys)	KCNE5 (E102K)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1011257	NM_012282.4(KCNE5):c.130G>C (p.Asp44His)	KCNE5 (D44H)	Single nucleotide variant (missense variant)	Brugada syndrome	GUncertain significance
Select item 992648	GRCh37/hg19 Xp11.21-q28(chrX:56469080-155233731)x3	CPXCR1, GABRE +509 more	Copy number gain	not provided	GPathogenic

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