KCNK18[gene] - ClinVar

Search results

Items: 96

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59707	GRCh38/hg38 10q24.31-26.3(chr10:100194215-132432797)x3	EDRF1-AS1, EDRF1-DT +1036 more	Copy number gain	See cases	GPathogenic
Select item 148679	GRCh38/hg38 10q24.31-26.3(chr10:100600492-133622588)x3	GSTO1, GSTO2 +1097 more	Copy number gain	See cases	GPathogenic
Select item 58782	GRCh38/hg38 10q25.1-26.11(chr10:107191100-118761489)x1	ABLIM1, ACSL5 +308 more	Copy number loss	See cases	GPathogenic
Select item 144206	GRCh38/hg38 10q25.1-26.3(chr10:108102587-133620674)x3	LOC126861107, LOC128598885 +802 more	Copy number gain	See cases	GPathogenic
Select item 57507	GRCh38/hg38 10q25.2-26.3(chr10:111313099-133620674)x3	ABLIM1, ABRAXAS2 +679 more	Copy number gain	See cases	GPathogenic
Select item 148437	GRCh38/hg38 10q25.2-26.12(chr10:112701186-120970617)x3	LOC126861050, LOC126861051 +248 more	Copy number gain	See cases	GLikely pathogenic
Select item 3039667	NM_181840.1(KCNK18):c.-1G>A	KCNK18	Single nucleotide variant	KCNK18-related disorder	GLikely benign
Select item 3113396	NM_181840.1(KCNK18):c.11C>T (p.Ser4Leu)	KCNK18 (S4L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2192945	NM_181840.1(KCNK18):c.12G>A (p.Ser4=)	KCNK18	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2288036	NM_181840.1(KCNK18):c.18C>A (p.His6Gln)	KCNK18 (H6Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1578252	NM_181840.1(KCNK18):c.28A>G (p.Arg10Gly)	KCNK18 (R10G)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2063627	NM_181840.1(KCNK18):c.51G>A (p.Leu17=)	KCNK18	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 450887	NM_181840.1(KCNK18):c.58C>G (p.Leu20Val)	KCNK18 (L20V)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 2223589	NM_181840.1(KCNK18):c.68G>C (p.Gly23Ala)	KCNK18 (G23A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305622	NM_181840.1(KCNK18):c.139G>A (p.Gly47Ser)	KCNK18 (G47S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 1398272	NM_181840.1(KCNK18):c.185T>C (p.Leu62Ser)	KCNK18 (L62S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2316527	NM_181840.1(KCNK18):c.193C>A (p.Leu65Ile)	KCNK18 (L65I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1318373	NM_181840.1(KCNK18):c.194T>G (p.Leu65Arg)	KCNK18 (L65R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3038333	NM_181840.1(KCNK18):c.218A>C (p.Glu73Ala)	KCNK18 (E73A)	Single nucleotide variant (missense variant)	KCNK18-related disorder	GLikely benign
Select item 3287687	NM_181840.1(KCNK18):c.220A>G (p.Thr74Ala)	KCNK18 (T74A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2054857	NM_181840.1(KCNK18):c.223+4G>C	KCNK18	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2062785	NM_181840.1(KCNK18):c.255G>C (p.Gly85=)	KCNK18	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2743109	NM_181840.1(KCNK18):c.309C>T (p.Phe103=)	KCNK18	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2556279	NM_181840.1(KCNK18):c.314G>A (p.Ser105Asn)	KCNK18 (S105N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113397	NM_181840.1(KCNK18):c.323T>C (p.Phe108Ser)	KCNK18 (F108S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1167254	NM_181840.1(KCNK18):c.328T>C (p.Cys110Arg)	KCNK18 (C110R)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3287685	NM_181840.1(KCNK18):c.335C>T (p.Thr112Met)	KCNK18 (T112M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 154913	GRCh38/hg38 10q25.3-26.11(chr10:117205385-118509587)x3	CASC2, EMX2 +31 more	Copy number gain	See cases	GUncertain significance
Select item 225399	NM_181840.1(KCNK18):c.361dup (p.Tyr121fs)	KCNK18 (Y121fs)	Duplication (frameshift variant)	Migraine, with or without aura, susceptibility to, 13 +1 more	GConflicting classifications of pathogenicity
Select item 424965	NM_181840.1(KCNK18):c.364A>C (p.Ile122Leu)	KCNK18 (I122L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2885988	NM_181840.1(KCNK18):c.390G>A (p.Lys130=)	KCNK18	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 18398	NM_181840.1(KCNK18):c.414_415del (p.Phe139fs)	KCNK18 (F139fs)	Microsatellite (frameshift variant)	not provided +1 more	GUncertain significance
Select item 1450611	NM_181840.1(KCNK18):c.427_428del (p.Leu143fs)	KCNK18 (L143fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2295125	NM_181840.1(KCNK18):c.431T>A (p.Met144Lys)	KCNK18 (M144K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2760243	NM_181840.1(KCNK18):c.456C>T (p.Gly152=)	KCNK18	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1802569	NM_181840.1(KCNK18):c.487T>G (p.Tyr163Asp)	KCNK18 (Y163D)	Single nucleotide variant (missense variant)	Migraine, with or without aura, susceptibility to, 13	GPathogenic
Select item 2060078	NM_181840.1(KCNK18):c.489T>C (p.Tyr163=)	KCNK18	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2858125	NM_181840.1(KCNK18):c.493C>T (p.Arg165Trp)	KCNK18 (R165W)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1810423	NM_181840.1(KCNK18):c.499C>T (p.Arg167Ter)	KCNK18 (R167*)	Single nucleotide variant (nonsense)	KCNK18-related neurodevelopmental disorder	GPathogenic
Select item 2548032	NM_181840.1(KCNK18):c.520C>T (p.Arg174Cys)	KCNK18 (R174C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2230954	NM_181840.1(KCNK18):c.524C>G (p.Pro175Arg)	KCNK18 (P175R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551996	NM_181840.1(KCNK18):c.541T>C (p.Cys181Arg)	KCNK18 (C181R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1602862	NM_181840.1(KCNK18):c.567A>G (p.Lys189=)	KCNK18	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3036328	NM_181840.1(KCNK18):c.568C>A (p.Pro190Thr)	KCNK18 (P190T)	Single nucleotide variant (missense variant)	KCNK18-related disorder	GLikely benign
Select item 2464418	NM_181840.1(KCNK18):c.569C>T (p.Pro190Leu)	KCNK18 (P190L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2054904	NM_181840.1(KCNK18):c.582C>T (p.Pro194=)	KCNK18	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3287686	NM_181840.1(KCNK18):c.583G>A (p.Ala195Thr)	KCNK18 (A195T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2076630	NM_181840.1(KCNK18):c.587A>C (p.Asp196Ala)	KCNK18 (D196A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 714489	NM_181840.1(KCNK18):c.593C>G (p.Ala198Gly)	KCNK18 (A198G)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2321933	NM_181840.1(KCNK18):c.615T>G (p.Ser205Arg)	KCNK18 (S205R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113398	NM_181840.1(KCNK18):c.659G>A (p.Arg220His)	KCNK18 (R220H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2156756	NM_181840.1(KCNK18):c.684T>C (p.Phe228=)	KCNK18	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1623099	NM_181840.1(KCNK18):c.691T>C (p.Ser231Pro)	KCNK18 (S231P)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2159884	NM_181840.1(KCNK18):c.696T>G (p.His232Gln)	KCNK18 (H232Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 783584	NM_181840.1(KCNK18):c.698C>T (p.Ala233Val)	KCNK18 (A233V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 780913	NM_181840.1(KCNK18):c.698C>A (p.Ala233Glu)	KCNK18 (A233E)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1299240	NM_181840.1(KCNK18):c.711_718del (p.Gln237fs)	KCNK18 (Q237fs)	Deletion (frameshift variant)	Migraine, with or without aura, susceptibility to, 13	GUncertain significance
Select item 2483568	NM_181840.1(KCNK18):c.716C>A (p.Thr239Lys)	KCNK18 (T239K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2057882	NM_181840.1(KCNK18):c.718C>T (p.Leu240=)	KCNK18	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1696556	NM_181840.1(KCNK18):c.721C>A (p.Gln241Lys)	KCNK18 (Q241K)	Single nucleotide variant (missense variant)	Migraine, with or without aura, susceptibility to, 13	GUncertain significance
Select item 1315684	NM_181840.1(KCNK18):c.728C>T (p.Pro243Leu)	KCNK18 (P243L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2348584	NM_181840.1(KCNK18):c.763G>A (p.Glu255Lys)	KCNK18 (E255K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 432474	NM_181840.1(KCNK18):c.839A>G (p.Asp280Gly)	KCNK18 (D280G)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 3113399	NM_181840.1(KCNK18):c.884C>T (p.Ser295Phe)	KCNK18 (S295F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2964734	NM_181840.1(KCNK18):c.930C>T (p.Phe310=)	KCNK18	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2464079	NM_181840.1(KCNK18):c.971T>C (p.Ile324Thr)	KCNK18 (I324T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396444	NM_181840.1(KCNK18):c.1007T>C (p.Phe336Ser)	KCNK18 (F336S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2884402	NM_181840.1(KCNK18):c.1035C>T (p.Ile345=)	KCNK18	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3356064	NM_181840.1(KCNK18):c.1036G>A (p.Val346Ile)	KCNK18 (V346I)	Single nucleotide variant (missense variant)	KCNK18-related disorder	GUncertain significance
Select item 3113394	NM_181840.1(KCNK18):c.1084C>A (p.Leu362Met)	KCNK18 (L362M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525426	NM_181840.1(KCNK18):c.1087A>C (p.Ile363Leu)	KCNK18 (I363L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113395	NM_181840.1(KCNK18):c.1112T>C (p.Leu371Pro)	KCNK18 (L371P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2799972	NM_181840.1(KCNK18):c.1114T>C (p.Phe372Leu)	KCNK18 (F372L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3244903	NC_000010.10:g.(?_117823909)_(119750414_?)dup	CCDC172, EMX2 +14 more	Duplication	Microphthalmia, syndromic 11	GUncertain significance
Select item 3063164	GRCh37/hg19 10q23.33-26.3(chr10:95078198-135427143)x3	ABCC2, ABLIM1 +293 more	Copy number gain	not specified	GPathogenic
Select item 3063162	GRCh37/hg19 10q25.1-26.13(chr10:107129993-123817654)x3	ABLIM1, ACSL5 +70 more	Copy number gain	not specified	GLikely pathogenic
Select item 2684621	GRCh37/hg19 10q25.1-26.3(chr10:111447991-133435388)x3	ABLIM1, ABRAXAS2 +117 more	Copy number gain	not provided	GPathogenic
Select item 2671974	GRCh37/hg19 10q25.1-26.3(chr10:111378692-135427143)x3	ABLIM1, ABRAXAS2 +145 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574696	GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143)	AGAP5, CRTAC1 +682 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574686	GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143)	ABRAXAS2, CHCHD1 +673 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 1527606	GRCh37/hg19 10q25.3-26.13(chr10:117019650-125217066)	ACADSB, ARMS2 +54 more	Copy number loss	not specified	GPathogenic
Select item 1527605	GRCh37/hg19 10q25.1-26.3(chr10:108455687-135427143)	ABLIM1, ABRAXAS2 +146 more	Copy number gain	not specified	GPathogenic
Select item 1330213	GRCh37/hg19 10q25.3-26.12(chr10:118891670-122349064)x1	CACUL1, PLPP4 +22 more	Copy number loss	Astigmatism +4 more	GUncertain significance
Select item 1180521	GRCh37/hg19 10q25.3-26.3(chr10:118247181-135435319)x3	ECHS1, EDRF1 +110 more	Copy number gain	not provided	GPathogenic
Select item 687114	GRCh37/hg19 10q25.2-26.3(chr10:114544537-135427143)x3	ABLIM1, ABRAXAS2 +130 more	Copy number gain	not provided	GPathogenic
Select item 625657	GRCh37/hg19 10q25.1-26.3(chr10:110022170-135439095)	ABLIM1, ABRAXAS2 +146 more	Copy number gain	not provided	GPathogenic
Select item 625556	GRCh37/hg19 10q25.3-26.13(chr10:117024753-124942806)	ACADSB, ARMS2 +54 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 563802	GRCh37/hg19 10q23.33-26.3(chr10:94346520-135427143)x3	ABCC2, ABLIM1 +298 more	Copy number gain	not provided	GPathogenic
Select item 563801	GRCh37/hg19 10q24.33-26.3(chr10:105613040-135427143)x3	ABLIM1, ABRAXAS2 +157 more	Copy number gain	not provided	GPathogenic
Select item 523165	GRCh37/hg19 10q11.21-26.3(chr10:42347406-135534747)x1	COX15, CPEB3 +569 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 443838	GRCh37/hg19 10q25.1-26.3(chr10:106003533-135427143)x3	ABLIM1, ABRAXAS2 +151 more	Copy number gain	See cases	GPathogenic
Select item 443323	GRCh37/hg19 10q23.32-26.3(chr10:93283493-135427143)x3	ABCC2, ABLIM1 +305 more	Copy number gain	See cases	GPathogenic
Select item 441987	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)	INA, INPP5A +721 more	Copy number gain	See cases	GPathogenic
Select item 441986	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3	A1CF, ABCC2 +721 more	Copy number gain	See cases	GPathogenic
Select item 393995	GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3	A1CF, ABCC2 +722 more	Copy number gain	See cases	GPathogenic
Select item 253479	GRCh37/hg19 10q24.32-26.3(chr10:103288313-135512075)x3	ABLIM1, ABRAXAS2 +201 more	Copy number gain	See cases	GPathogenic

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Items: 96