KCNG4[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155358	GRCh38/hg38 16q12.2-24.3(chr16:52899183-90088654)x3	LOC130059149, LOC130059150 +1738 more	Copy number gain	See cases	GPathogenic
Select item 146601	GRCh38/hg38 16q21-24.1(chr16:62925929-84585795)x3	AARS1, ACD +939 more	Copy number gain	See cases	GPathogenic
Select item 154511	GRCh38/hg38 16q21-24.3(chr16:64389378-90081985)x3	LOC130059618, LOC130059619 +1429 more	Copy number gain	See cases	GPathogenic
Select item 58645	GRCh38/hg38 16q21-24.3(chr16:65313395-90081985)x3	AARS1, ACD +1426 more	Copy number gain	See cases	GPathogenic
Select item 150599	GRCh38/hg38 16q21-24.3(chr16:65511483-90096995)x3	AARS1, ACD +1424 more	Copy number gain	See cases	GPathogenic
Select item 144332	GRCh38/hg38 16q22.1-24.1(chr16:70414573-84908120)x1	ADAD2, ADAMTS18 +591 more	Copy number loss	See cases	GPathogenic
Select item 58646	GRCh38/hg38 16q22.1-24.3(chr16:70514631-90081985)x3	HSBP1, HSD17B2 +1041 more	Copy number gain	See cases	GPathogenic
Select item 148421	GRCh38/hg38 16q22.1-24.3(chr16:70749398-90096995)x3	LOC126862439, LOC126862440 +1031 more	Copy number gain	See cases	GPathogenic
Select item 150450	GRCh38/hg38 16q23.1-24.3(chr16:75377981-90081992)x3	ACSF3, ADAD2 +832 more	Copy number gain	See cases	GPathogenic
Select item 153239	GRCh38/hg38 16q23.1-24.3(chr16:76336203-90088654)x3	LOC130059708, LOC130059709 +788 more	Copy number gain	See cases	GPathogenic
Select item 58647	GRCh38/hg38 16q23.1-24.3(chr16:76873569-90081985)x3	LINC01081, LINC01082 +781 more	Copy number gain	See cases	GPathogenic
Select item 59517	GRCh38/hg38 16q23.1-24.2(chr16:78704275-87819342)x1	ADAD2, ARLNC1 +447 more	Copy number loss	See cases	GPathogenic
Select item 57187	GRCh38/hg38 16q23.1-24.3(chr16:78816291-90081985)x3	ACSF3, ADAD2 +719 more	Copy number gain	See cases	GPathogenic
Select item 154631	GRCh38/hg38 16q23.2-24.3(chr16:80067315-90057871)x3	ACSF3, ADAD2 +691 more	Copy number gain	See cases	GPathogenic
Select item 152591	GRCh38/hg38 16q23.2-24.3(chr16:80717291-90096662)x3	ACSF3, ADAD2 +677 more	Copy number gain	See cases	GPathogenic
Select item 147748	GRCh38/hg38 16q23.2-24.3(chr16:80946659-90081985)x3	ACSF3, ADAD2 +670 more	Copy number gain	See cases	GPathogenic
Select item 59518	GRCh38/hg38 16q23.3-24.1(chr16:81753762-85714791)x1	LINC02176, LOC101928392 +211 more	Copy number loss	See cases	GPathogenic
Select item 58648	GRCh38/hg38 16q23.3-24.3(chr16:82173150-90081985)x3	LOC130059691, LOC130059692 +566 more	Copy number gain	See cases	GPathogenic
Select item 59519	GRCh38/hg38 16q23.3-24.1(chr16:83016872-85087809)x1	ADAD2, ATP2C2 +106 more	Copy number loss	See cases	GPathogenic
Select item 144447	GRCh38/hg38 16q23.3-24.1(chr16:83399060-84908120)x1	ADAD2, ATP2C2 +93 more	Copy number loss	See cases	GPathogenic
Select item 148918	GRCh38/hg38 16q23.3-24.3(chr16:83478453-89932910)x3	ACSF3, ADAD2 +531 more	Copy number gain	See cases	GLikely pathogenic
Select item 147286	GRCh38/hg38 16q23.3-24.1(chr16:83687650-86073240)x1	ADAD2, CIBAR2 +203 more	Copy number loss	See cases	GPathogenic
Select item 152236	GRCh38/hg38 16q23.3-24.1(chr16:83763804-84276472)x3	ADAD2, CDH13 +36 more	Copy number gain	See cases	GUncertain significance
Select item 150582	GRCh38/hg38 16q23.3-24.1(chr16:83763804-84558035)x1	ADAD2, ATP2C2 +55 more	Copy number loss	See cases	GUncertain significance
Select item 146470	GRCh38/hg38 16q23.3-24.1(chr16:83878992-84908120)x3	ADAD2, KCNG4 +80 more	Copy number gain	See cases	GUncertain significance
Select item 57422	GRCh38/hg38 16q23.3-24.2(chr16:83878992-87223838)x1	LOC130059603, LOC130059604 +227 more	Copy number loss	See cases	GPathogenic
Select item 146355	GRCh38/hg38 16q23.3-24.3(chr16:83988570-90081985)x3	ACSF3, ADAD2 +534 more	Copy number gain	See cases	GLikely pathogenic
Select item 147259	GRCh38/hg38 16q23.3-24.1(chr16:84063406-84404889)x3	ADAD2, ATP2C2 +20 more	Copy number gain	See cases	GBenign
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 3113188	NM_172347.3(KCNG4):c.1462G>A (p.Glu488Lys)	KCNG4 (E488K)	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 716815	NM_172347.3(KCNG4):c.1449A>G (p.Pro483=)	KCNG4	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 2570571	NM_172347.3(KCNG4):c.1366A>G (p.Thr456Ala)	KCNG4 (T456A)	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 2237577	NM_172347.3(KCNG4):c.1300G>T (p.Val434Leu)	KCNG4 (V434L)	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 778125	NM_172347.3(KCNG4):c.1255G>A (p.Val419Met)	KCNG4 (V419M)	Single nucleotide variant (missense variant)	not provided	GBenign
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 2539162	NM_172347.3(KCNG4):c.1219G>C (p.Ala407Pro)	KCNG4 (A407P)	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 771201	NM_172347.3(KCNG4):c.1158C>T (p.Ser386=)	KCNG4	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 2461701	NM_172347.3(KCNG4):c.1106G>A (p.Arg369His)	KCNG4 (R369H)	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 2267812	NM_172347.3(KCNG4):c.1048C>A (p.Leu350Met)	KCNG4 (L350M)	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 3113200	NM_172347.3(KCNG4):c.947C>A (p.Pro316His)	KCNG4 (P316H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 710101	NM_172347.3(KCNG4):c.933G>A (p.Ala311=)	KCNG4	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 2292547	NM_172347.3(KCNG4):c.844G>C (p.Val282Leu)	KCNG4 (V282L)	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 2232368	NM_172347.3(KCNG4):c.793G>A (p.Val265Met)	KCNG4 (V265M)	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 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 2309103	NM_172347.3(KCNG4):c.717T>G (p.Cys239Trp)	KCNG4 (C239W)	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 2346218	NM_172347.3(KCNG4):c.625G>A (p.Glu209Lys)	KCNG4 (E209K)	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 2225611	NM_172347.3(KCNG4):c.593C>T (p.Ser198Leu)	KCNG4 (S198L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2254593	NM_172347.3(KCNG4):c.565G>A (p.Glu189Lys)	KCNG4 (E189K)	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 2261254	NM_172347.3(KCNG4):c.517G>A (p.Glu173Lys)	KCNG4 (E173K)	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 787129	NM_172347.3(KCNG4):c.442G>A (p.Ala148Thr)	KCNG4 (A148T)	Single nucleotide variant (missense variant)	not provided	GBenign
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 2311225	NM_172347.3(KCNG4):c.362G>A (p.Gly121Glu)	KCNG4 (G121E)	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 2456545	NM_172347.3(KCNG4):c.227C>A (p.Thr76Lys)	KCNG4 (T76K)	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 3113187	NM_172347.3(KCNG4):c.134G>A (p.Arg45Gln)	KCNG4 (R45Q)	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 2322704	NM_172347.3(KCNG4):c.128G>A (p.Arg43Lys)	KCNG4 (R43K)	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 2394886	NM_172347.3(KCNG4):c.106A>G (p.Ile36Val)	KCNG4 (I36V)	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 2285728	NM_172347.3(KCNG4):c.31C>T (p.His11Tyr)	KCNG4 (H11Y)	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 1707627	GRCh37/hg19 16q22.2-24.3(chr16:71641395-90161959)x3	IL17C, ZFHX3 +150 more	Copy number gain	Syndromic anorectal malformation	GLikely pathogenic
Select item 1676307	GRCh37/hg19 16q11.2-24.3(chr16:46503968-90155062)x3	SYCE1L, TAF1C +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	BCO1, ACSF3 +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 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

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