ClinVar for Gene (Select 3755) - ClinVar

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Links from Gene

Items: 35

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3287563	NM_002237.4(KCNG1):c.169C>A (p.Gln57Lys)	KCNG1 (Q57K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3287562	NM_002237.4(KCNG1):c.158G>A (p.Arg53His)	KCNG1 (R53H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3287561	NM_002237.4(KCNG1):c.89C>G (p.Pro30Arg)	KCNG1 (P30R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3235944	GRCh38/hg38 20q13.13-13.33(chr20:50805746-64334135)	ABHD16B, ADNP +635 more	Copy number gain	20q13.13qter duplication	GPathogenic
Select item 3113162	NM_002237.4(KCNG1):c.895A>T (p.Ser299Cys)	KCNG1 (S299C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113161	NM_002237.4(KCNG1):c.876C>A (p.Ser292Arg)	KCNG1 (S292R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113159	NM_002237.4(KCNG1):c.214A>C (p.Ile72Leu)	KCNG1 (I72L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113157	NM_002237.4(KCNG1):c.1306C>G (p.Pro436Ala)	KCNG1 (P436A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609385	NM_002237.4(KCNG1):c.553G>A (p.Glu185Lys)	KCNG1 (E185K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609384	NM_002237.4(KCNG1):c.548A>G (p.Glu183Gly)	KCNG1 (E183G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534197	NM_002237.4(KCNG1):c.988G>A (p.Ala330Thr)	KCNG1 (A330T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2519417	NM_002237.4(KCNG1):c.614G>A (p.Arg205His)	KCNG1 (R205H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478261	NM_002237.4(KCNG1):c.1529G>T (p.Arg510Ile)	KCNG1 (R510I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342857	NM_002237.4(KCNG1):c.802G>A (p.Val268Ile)	KCNG1 (V268I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332396	NM_002237.4(KCNG1):c.32A>G (p.Tyr11Cys)	KCNG1 (Y11C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315535	NM_002237.4(KCNG1):c.137T>G (p.Leu46Arg)	KCNG1 (L46R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315534	NM_002237.4(KCNG1):c.136C>G (p.Leu46Val)	KCNG1 (L46V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309473	NM_002237.4(KCNG1):c.1475T>A (p.Leu492Gln)	KCNG1 (L492Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270388	NM_002237.4(KCNG1):c.1503G>C (p.Leu501Phe)	KCNG1 (L501F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262066	NM_002237.4(KCNG1):c.526T>C (p.Phe176Leu)	KCNG1 (F176L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247113	NM_002237.4(KCNG1):c.1210G>A (p.Asp404Asn)	KCNG1 (D404N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1456498	NC_000020.10:g.(?_49354394)_(49626875_?)del	ADNP, BCAS4 +4 more	Deletion	not provided	GPathogenic
Select item 560064	Single allele	ADNP, ARFGEF2 +27 more	Duplication	not provided	GUncertain significance
Select item 443773	GRCh37/hg19 20q13.13-13.2(chr20:47627844-52045480)x1	ADNP, ARFGEF2 +28 more	Copy number loss	See cases	GPathogenic
Select item 443340	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)x3	AAR2, ABHD12 +540 more	Copy number gain	See cases	GPathogenic
Select item 443339	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)	AAR2, ABHD12 +540 more	Copy number gain	See cases	GPathogenic
Select item 442502	GRCh37/hg19 20q13.13-13.2(chr20:47726521-50427649)x1	SPATA2, STAU1 +24 more	Copy number loss	See cases	GLikely pathogenic
Select item 395152	GRCh37/hg19 20q13.13(chr20:49625562-49746131)x3	KCNG1	Copy number gain	See cases	GLikely benign
Select item 187826	GRCh37/hg19 20q13.13-13.2(chr20:47682662-49884981)x1	KCNG1, SPATA2 +22 more	Copy number loss	See cases	GLikely pathogenic
Select item 148193	GRCh38/hg38 20q13.13-13.2(chr20:49989123-51495645)x1	ADNP, ADNP-AS1 +102 more	Copy number loss	See cases	GLikely pathogenic
Select item 148190	GRCh38/hg38 20q13.13-13.2(chr20:50781990-52792847)x1	ADNP, ADNP-AS1 +63 more	Copy number loss	See cases	GPathogenic
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	JPH2, KAT14 +2522 more	Copy number gain	See cases	GPathogenic
Select item 59219	GRCh38/hg38 20q13.13-13.2(chr20:49947237-55875406)x3	ADNP, ADNP-AS1 +199 more	Copy number gain	See cases	GPathogenic
Select item 59218	GRCh38/hg38 20q13.12-13.33(chr20:44787704-64277321)x3	ABHD16B, ACOT8 +1024 more	Copy number gain	See cases	GPathogenic
Select item 58973	GRCh38/hg38 20q13.13-13.2(chr20:49731076-51202566)x1	ADNP, ADNP-AS1 +124 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 35