6236[HGNC] - ClinVar

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Items: 71

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 60005	GRCh38/hg38 1p21.3-13.3(chr1:97410602-110670510)x1	AGL, AHCYL1 +333 more	Copy number loss	See cases	GPathogenic
Select item 60007	GRCh38/hg38 1p21.2-13.2(chr1:101618097-111703028)x1	ELAPOR1, EPS8L3 +276 more	Copy number loss	See cases	GPathogenic
Select item 545138	NC_000001.11:g.(?_103175204)_(111410059_?)del	AHCYL1, AKNAD1 +242 more	Deletion	Autism	GLikely pathogenic
Select item 154886	GRCh38/hg38 1p21.1-12(chr1:104325484-119977655)x3	LINC01780, LINC02868 +563 more	Copy number gain	See cases	GPathogenic
Select item 154693	GRCh38/hg38 1p21.1-13.2(chr1:105468292-112190626)x1	ADORA3, AHCYL1 +274 more	Copy number loss	See cases	GPathogenic
Select item 58084	GRCh38/hg38 1p13.3-12(chr1:109756630-118650204)x3	ADORA3, AHCYL1 +391 more	Copy number gain	See cases	GPathogenic
Select item 3113119	NM_001039574.3(KCNC4):c.134C>T (p.Thr45Met)	KCNC4 (T45M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3113129	NM_001039574.3(KCNC4):c.205G>T (p.Asp69Tyr)	KCNC4 (D69Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2569355	NM_001039574.3(KCNC4):c.226A>T (p.Thr76Ser)	KCNC4 (T76S)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2569356	NM_001039574.3(KCNC4):c.242T>C (p.Val81Ala)	KCNC4 (V81A)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2290271	NM_001039574.3(KCNC4):c.302G>A (p.Gly101Asp)	KCNC4 (G101D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3113131	NM_001039574.3(KCNC4):c.496G>C (p.Gly166Arg)	KCNC4 (G166R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2534193	NM_001039574.3(KCNC4):c.505A>G (p.Ser169Gly)	KCNC4 (S169G)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2534194	NM_001039574.3(KCNC4):c.507C>G (p.Ser169Arg)	KCNC4 (S169R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2534195	NM_001039574.3(KCNC4):c.509G>C (p.Gly170Ala)	KCNC4 (G170A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2369742	NM_001039574.3(KCNC4):c.520A>G (p.Ser174Gly)	KCNC4 (S174G)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2603776	NM_001039574.3(KCNC4):c.529G>A (p.Ala177Thr)	KCNC4 (A177T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3287529	NM_001039574.3(KCNC4):c.547G>A (p.Glu183Lys)	KCNC4 (E183K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3067507	NM_001039574.3(KCNC4):c.567G>C (p.Leu189=)	KCNC4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2467598	NM_001039574.3(KCNC4):c.577G>C (p.Glu193Gln)	KCNC4 (E193Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2281128	NM_001039574.3(KCNC4):c.586G>C (p.Ala196Pro)	KCNC4 (A196P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3287532	NM_001039574.3(KCNC4):c.598G>T (p.Ala200Ser)	KCNC4 (A200S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2485532	NM_001039574.3(KCNC4):c.599C>T (p.Ala200Val)	KCNC4 (A200V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2268853	NM_001039574.3(KCNC4):c.605C>T (p.Ser202Phe)	KCNC4 (S202F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3287531	NM_001039574.3(KCNC4):c.643C>T (p.Leu215Phe)	KCNC4 (L215F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2330146	NM_001039574.3(KCNC4):c.760G>A (p.Asp254Asn)	KCNC4 (D254N)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2411459	NM_001039574.3(KCNC4):c.767A>G (p.Asn256Ser)	KCNC4 (N256S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 736266	NM_001039574.3(KCNC4):c.786C>T (p.Arg262=)	KCNC4	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 3113133	NM_001039574.3(KCNC4):c.796A>G (p.Ile266Val)	KCNC4 (I266V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2530487	NM_001039574.3(KCNC4):c.805G>A (p.Val269Met)	KCNC4 (V269M)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3113118	NM_001039574.3(KCNC4):c.1013C>G (p.Ala338Gly)	KCNC4 (A338G)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2227990	NM_001039574.3(KCNC4):c.1225C>G (p.Pro409Ala)	KCNC4 (P409A)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2245503	NM_001039574.3(KCNC4):c.1238G>A (p.Arg413Gln)	KCNC4 (R413Q)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2554515	NM_001039574.3(KCNC4):c.1426G>A (p.Gly476Ser)	KCNC4 (G476S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2353521	NM_001039574.3(KCNC4):c.1447A>G (p.Met483Val)	KCNC4 (M483V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3113120	NM_001039574.3(KCNC4):c.1474C>T (p.Arg492Trp)	KCNC4 (R492W)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3113121	NM_001039574.3(KCNC4):c.1489C>T (p.Pro497Ser)	KCNC4 (P497S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2402251	NM_001039574.3(KCNC4):c.1493G>A (p.Arg498Gln)	KCNC4 (R498Q)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3287530	NM_001039574.3(KCNC4):c.1514C>T (p.Pro505Leu)	KCNC4 (P505L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3113123	NM_001039574.3(KCNC4):c.1523G>A (p.Cys508Tyr)	KCNC4 (C508Y)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2302754	NM_001039574.3(KCNC4):c.1580C>T (p.Ala527Val)	KCNC4 (A527V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2548534	NM_001039574.3(KCNC4):c.1583G>A (p.Arg528Gln)	KCNC4 (R528Q)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2324935	NM_001039574.3(KCNC4):c.1599C>G (p.Ile533Met)	KCNC4 (I533M)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3113124	NM_001039574.3(KCNC4):c.1612G>A (p.Ala538Thr)	KCNC4 (A538T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2513874	NM_001039574.3(KCNC4):c.1621A>G (p.Lys541Glu)	KCNC4 (K541E)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3113125	NM_001039574.3(KCNC4):c.1705G>A (p.Glu569Lys)	KCNC4 (E569K)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2402695	NM_001039574.3(KCNC4):c.1714C>T (p.Arg572Trp)	KCNC4 (R572W)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3113126	NM_001039574.3(KCNC4):c.1721T>C (p.Leu574Pro)	KCNC4 (L574P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3287528	NM_001039574.3(KCNC4):c.1724G>A (p.Arg575Gln)	KCNC4 (D263N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2458453	NM_001039574.3(KCNC4):c.1727G>A (p.Arg576His)	KCNC4 (R576H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3067261	NM_001039574.3(KCNC4):c.1734C>A (p.Thr578=)	KCNC4 (P266Q)	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2475035	NM_001039574.3(KCNC4):c.1745G>A (p.Arg582Lys)	KCNC4 (E270K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2388513	NM_001039574.3(KCNC4):c.1786G>A (p.Asp596Asn)	KCNC4 (D596N)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3113127	NM_001039574.3(KCNC4):c.1798G>A (p.Ala600Thr)	KCNC4 (A600T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2513903	NM_001039574.3(KCNC4):c.1813C>T (p.Arg605Trp)	KCNC4 (R605W)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3287533	NM_001039574.3(KCNC4):c.1820-683C>A	KCNC4 (F609L +1 more)	Single nucleotide variant (nonsense +3 more)	not specified	GUncertain significance
Select item 3113128	NM_001039574.3(KCNC4):c.1820-652C>T	KCNC4 (P620S)	Single nucleotide variant (synonymous variant +3 more)	not specified	GUncertain significance
Select item 2236541	NM_001039574.3(KCNC4):c.1820-649G>C	KCNC4 (E621Q)	Single nucleotide variant (synonymous variant +3 more)	not specified	GUncertain significance
Select item 3063454	GRCh37/hg19 1p13.3-13.2(chr1:109700156-112176616)x1	ADORA3, AHCYL1 +48 more	Copy number loss	not specified	GUncertain significance
Select item 2685577	GRCh37/hg19 1p13.3-13.1(chr1:110066946-116672408)x1	ADORA3, AHCYL1 +77 more	Copy number loss	not provided	GPathogenic
Select item 2685555	GRCh37/hg19 1p13.3-13.2(chr1:109483388-112293512)x1	ADORA3, AHCYL1 +54 more	Copy number loss	not provided	GPathogenic
Select item 2424031	NC_000001.10:g.(?_108679275)_(111674176_?)del	AHCYL1, AKNAD1 +52 more	Deletion	Hereditary spastic paraplegia 63 +1 more	GPathogenic
Select item 1809023	GRCh37/hg19 1p13.3(chr1:110662135-111401322)x3	KCNA10, KCNA2 +7 more	Copy number gain	not provided	GUncertain significance
Select item 1527171	GRCh37/hg19 1p21.3-13.2(chr1:95046805-114714931)	ADORA3, AGL +124 more	Copy number loss	not specified	GPathogenic
Select item 1459387	NC_000001.10:g.(?_110603355)_(111147404_?)del	ALX3, KCNA10 +8 more	Deletion	Developmental and epileptic encephalopathy, 32	GPathogenic
Select item 1047871	GRCh37/hg19 1p21.2-12(chr1:102021465-119737478)	ATP1A1, RAP1A +131 more	Copy number loss	Seizure +1 more	GPathogenic
Select item 684474	Single allele	AHCYL1, AKNAD1 +47 more	Deletion	not provided	Gnot provided
Select item 635280	Single allele	KCNC4, LAMTOR5 +50 more	Deletion	1p13.3 deletion syndrome	GLikely pathogenic
Select item 443336	GRCh37/hg19 1p22.1-11.2(chr1:93837992-121343783)x3	ABCA4, ABCD3 +177 more	Copy number gain	See cases	GPathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic

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Items: 71