ClinVar for Gene (Select 93107) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3532307	NM_172347.3(KCNG4):c.262C>T (p.Leu88Phe)	KCNG4 (L88F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3532306	NM_172347.3(KCNG4):c.669C>G (p.Phe223Leu)	KCNG4 (F223L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3532305	NM_172347.3(KCNG4):c.580G>C (p.Ala194Pro)	KCNG4 (A194P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3532304	NM_172347.3(KCNG4):c.283G>C (p.Glu95Gln)	KCNG4 (E95Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3532303	NM_172347.3(KCNG4):c.483C>G (p.Cys161Trp)	KCNG4 (C161W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3532301	NM_172347.3(KCNG4):c.1139T>G (p.Val380Gly)	KCNG4 (V380G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3532300	NM_172347.3(KCNG4):c.418G>T (p.Ala140Ser)	KCNG4 (A140S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3532299	NM_172347.3(KCNG4):c.288G>C (p.Glu96Asp)	KCNG4 (E96D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3532298	NM_172347.3(KCNG4):c.274C>T (p.Arg92Trp)	KCNG4 (R92W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3532297	NM_172347.3(KCNG4):c.1054C>T (p.Arg352Cys)	KCNG4 (R352C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3532296	NM_172347.3(KCNG4):c.178G>A (p.Glu60Lys)	KCNG4 (E60K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3392429	GRCh37/hg19 16q23.3-24.1(chr16:84165683-84646897)x1	ADAD2, ATP2C2 +8 more	Copy number loss	not provided	GUncertain significance
Select item 3391857	GRCh37/hg19 16q21-24.1(chr16:62746020-84485022)x3	AARS1, ACD +194 more	Copy number gain	not provided	GPathogenic
Select item 3287574	NM_172347.3(KCNG4):c.1387G>A (p.Glu463Lys)	KCNG4 (E463K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3287573	NM_172347.3(KCNG4):c.47A>G (p.His16Arg)	KCNG4 (H16R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3287572	NM_172347.3(KCNG4):c.1405G>A (p.Glu469Lys)	KCNG4 (E469K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3287571	NM_172347.3(KCNG4):c.1061C>T (p.Ser354Leu)	KCNG4 (S354L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3287570	NM_172347.3(KCNG4):c.1357A>G (p.Ile453Val)	KCNG4 (I453V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3242307	GRCh37/hg19 16q23.3-24.3(chr16:82865402-90163542)x3	ACSF3, ADAD2 +87 more	Copy number gain	not provided	GPathogenic
Select item 3113200	NM_172347.3(KCNG4):c.947C>A (p.Pro316His)	KCNG4 (P316H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113199	NM_172347.3(KCNG4):c.774G>C (p.Lys258Asn)	KCNG4 (K258N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113198	NM_172347.3(KCNG4):c.770G>A (p.Arg257Gln)	KCNG4 (R257Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3113197	NM_172347.3(KCNG4):c.754C>A (p.Gln252Lys)	KCNG4 (Q252K)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3113195	NM_172347.3(KCNG4):c.575G>A (p.Arg192His)	KCNG4 (R192H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113194	NM_172347.3(KCNG4):c.547G>A (p.Val183Ile)	KCNG4 (V183I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113193	NM_172347.3(KCNG4):c.544G>A (p.Asp182Asn)	KCNG4 (D182N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113192	NM_172347.3(KCNG4):c.488G>T (p.Arg163Leu)	KCNG4 (R163L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113191	NM_172347.3(KCNG4):c.32A>T (p.His11Leu)	KCNG4 (H11L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113189	NM_172347.3(KCNG4):c.206G>A (p.Arg69Lys)	KCNG4 (R69K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113188	NM_172347.3(KCNG4):c.1462G>A (p.Glu488Lys)	KCNG4 (E488K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113187	NM_172347.3(KCNG4):c.134G>A (p.Arg45Gln)	KCNG4 (R45Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113186	NM_172347.3(KCNG4):c.1090G>A (p.Val364Met)	KCNG4 (V364M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063475	GRCh37/hg19 16q23.3-24.1(chr16:83307393-84530337)x3	ADAD2, ATP2C2 +14 more	Copy number gain	not specified	GUncertain significance
Select item 3063461	GRCh37/hg19 16q23.3-24.1(chr16:84046622-84340916)x3	ADAD2, DNAAF1 +7 more	Copy number gain	not specified	GUncertain significance
Select item 2685584	GRCh37/hg19 16q23.3-24.1(chr16:84179382-84326070)x1	ADAD2, DNAAF1 +3 more	Copy number loss	not provided	GUncertain significance
Select item 2570571	NM_172347.3(KCNG4):c.1366A>G (p.Thr456Ala)	KCNG4 (T456A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539162	NM_172347.3(KCNG4):c.1219G>C (p.Ala407Pro)	KCNG4 (A407P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538480	NM_172347.3(KCNG4):c.374G>A (p.Ser125Asn)	KCNG4 (S125N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521440	NM_172347.3(KCNG4):c.889A>T (p.Ile297Phe)	KCNG4 (I297F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511690	NM_172347.3(KCNG4):c.1138G>A (p.Val380Met)	KCNG4 (V380M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475820	NM_172347.3(KCNG4):c.982T>C (p.Tyr328His)	KCNG4 (Y328H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461701	NM_172347.3(KCNG4):c.1106G>A (p.Arg369His)	KCNG4 (R369H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456545	NM_172347.3(KCNG4):c.227C>A (p.Thr76Lys)	KCNG4 (T76K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403580	NM_172347.3(KCNG4):c.1352C>T (p.Thr451Met)	KCNG4 (T451M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402428	NM_172347.3(KCNG4):c.125G>A (p.Arg42Gln)	KCNG4 (R42Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396342	NM_172347.3(KCNG4):c.1201G>A (p.Glu401Lys)	KCNG4 (E401K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394886	NM_172347.3(KCNG4):c.106A>G (p.Ile36Val)	KCNG4 (I36V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375312	NM_172347.3(KCNG4):c.805T>C (p.Cys269Arg)	KCNG4 (C269R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374428	NM_172347.3(KCNG4):c.133C>T (p.Arg45Trp)	KCNG4 (R45W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350163	NM_172347.3(KCNG4):c.602G>A (p.Gly201Asp)	KCNG4 (G201D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346218	NM_172347.3(KCNG4):c.625G>A (p.Glu209Lys)	KCNG4 (E209K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333736	NM_172347.3(KCNG4):c.782A>G (p.Tyr261Cys)	KCNG4 (Y261C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322704	NM_172347.3(KCNG4):c.128G>A (p.Arg43Lys)	KCNG4 (R43K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311979	NM_172347.3(KCNG4):c.1471G>A (p.Asp491Asn)	KCNG4 (D491N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311225	NM_172347.3(KCNG4):c.362G>A (p.Gly121Glu)	KCNG4 (G121E)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2309103	NM_172347.3(KCNG4):c.717T>G (p.Cys239Trp)	KCNG4 (C239W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299731	NM_172347.3(KCNG4):c.1451C>G (p.Ala484Gly)	KCNG4 (A484G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292547	NM_172347.3(KCNG4):c.844G>C (p.Val282Leu)	KCNG4 (V282L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286292	NM_172347.3(KCNG4):c.278G>C (p.Ser93Thr)	KCNG4 (S93T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285728	NM_172347.3(KCNG4):c.31C>T (p.His11Tyr)	KCNG4 (H11Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269485	NM_172347.3(KCNG4):c.1405G>C (p.Glu469Gln)	KCNG4 (E469Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267812	NM_172347.3(KCNG4):c.1048C>A (p.Leu350Met)	KCNG4 (L350M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267764	NM_172347.3(KCNG4):c.628A>T (p.Met210Leu)	KCNG4 (M210L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261254	NM_172347.3(KCNG4):c.517G>A (p.Glu173Lys)	KCNG4 (E173K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254593	NM_172347.3(KCNG4):c.565G>A (p.Glu189Lys)	KCNG4 (E189K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237577	NM_172347.3(KCNG4):c.1300G>T (p.Val434Leu)	KCNG4 (V434L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232368	NM_172347.3(KCNG4):c.793G>A (p.Val265Met)	KCNG4 (V265M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225611	NM_172347.3(KCNG4):c.593C>T (p.Ser198Leu)	KCNG4 (S198L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213542	NM_172347.3(KCNG4):c.1253C>T (p.Thr418Met)	KCNG4 (T418M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205042	NM_172347.3(KCNG4):c.1279C>T (p.Arg427Cys)	KCNG4 (R427C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1707627	GRCh37/hg19 16q22.2-24.3(chr16:71641395-90161959)x3	ACSF3, ADAD2 +150 more	Copy number gain	Syndromic anorectal malformation	GLikely pathogenic
Select item 1676307	GRCh37/hg19 16q11.2-24.3(chr16:46503968-90155062)x3	AARS1, ABCC11 +368 more	Copy number gain	not provided	GPathogenic
Select item 1526538	GRCh37/hg19 16q23.3-24.1(chr16:84164522-84712751)	DNAAF1, HSDL1 +9 more	Copy number gain	not specified	GUncertain significance
Select item 1526537	GRCh37/hg19 16q23.3-24.1(chr16:84134463-85705611)	HSDL1, ADAD2 +16 more	Copy number loss	not specified	GUncertain significance
Select item 1526536	GRCh37/hg19 16q23.3-24.1(chr16:84035055-84346054)	DNAAF1, HSDL1 +8 more	Copy number gain	not specified	GUncertain significance
Select item 1526534	GRCh37/hg19 16q23.3-24.1(chr16:83313106-84608026)	NECAB2, CDH13 +15 more	Copy number loss	not specified	GUncertain significance
Select item 1328115	GRCh37/hg19 16q23.2-24.3(chr16:80386595-90163348)x3	BANP, BCO1 +102 more	Copy number gain	not provided	GPathogenic
Select item 979481	GRCh37/hg19 16q23.3-24.1(chr16:83866931-85276940)x3	CIBAR2, SLC38A8 +19 more	Copy number gain	not provided	GUncertain significance
Select item 975044	Single allele	ADAD2, DNAAF1 +26 more	Deletion	Alveolar capillary dysplasia with pulmonary venous misalignment	GLikely pathogenic
Select item 973025	GRCh37/hg19 16q21-24.3(chr16:61524229-90155062)x3	AARS1, ACD +268 more	Copy number gain	not provided	Gnot provided
Select item 815856	GRCh37/hg19 16q23.3-24.1(chr16:83330709-84866927)x1	OSGIN1, SLC38A8 +18 more	Copy number loss	not provided	GUncertain significance
Select item 787129	NM_172347.3(KCNG4):c.442G>A (p.Ala148Thr)	KCNG4 (A148T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 778125	NM_172347.3(KCNG4):c.1255G>A (p.Val419Met)	KCNG4 (V419M)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 771201	NM_172347.3(KCNG4):c.1158C>T (p.Ser386=)	KCNG4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 716815	NM_172347.3(KCNG4):c.1449A>G (p.Pro483=)	KCNG4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 710101	NM_172347.3(KCNG4):c.933G>A (p.Ala311=)	KCNG4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 689307	GRCh37/hg19 16q23.2-24.1(chr16:79254648-84827672)x1	ADAD2, ATMIN +34 more	Copy number loss	not provided	GUncertain significance
Select item 625611	GRCh37/hg19 16q23.3-24.3(chr16:82761333-90055381)	ACSF3, ADAD2 +83 more	Copy number gain	not provided	GPathogenic
Select item 564363	GRCh37/hg19 16q23.3-24.1(chr16:84111320-84485022)x3	TAF1C, KCNG4 +7 more	Copy number gain	not provided	GUncertain significance
Select item 564356	GRCh37/hg19 16q23.2-24.3(chr16:79400436-90155062)x3	ACSF3, ADAD2 +103 more	Copy number gain	not provided	GPathogenic
Select item 564342	GRCh37/hg19 16q22.2-24.3(chr16:72515938-90155062)x3	ACSF3, ADAD2 +136 more	Copy number gain	not provided	GPathogenic
Select item 523162	GRCh37/hg19 16q11.2-24.3(chr16:46455960-90354753)x1	CA7, COG8 +368 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 523156	GRCh37/hg19 16q11.2-24.3(chr16:46497599-90354753)x1	KCTD19, KIAA0513 +368 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 443126	GRCh37/hg19 16p13.2-q24.3(chr16:9273328-89548493)x3	CBLN1, CCDC102A +591 more	Copy number gain	See cases	GUncertain significance
Select item 443121	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3	AARS1, ABAT +811 more	Copy number gain	See cases	GPathogenic
Select item 443120	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)	CCL22, CCNF +811 more	Copy number gain	See cases	GPathogenic
Select item 442214	GRCh37/hg19 16q13-24.3(chr16:57051473-89797669)x3	AARS1, ACD +292 more	Copy number gain	See cases	GPathogenic
Select item 441696	GRCh37/hg19 16q23.3-24.3(chr16:83001540-90155062)x3	ACSF3, ADAD2 +87 more	Copy number gain	See cases	GLikely pathogenic
Select item 395502	GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3	ABCC6, BCL7C +811 more	Copy number gain	See cases	GPathogenic
Select item 393766	GRCh37/hg19 16q23.3-24.1(chr16:84098379-84402295)x3	ADAD2, ATP2C2 +7 more	Copy number gain	See cases	GUncertain significance

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