1782[HGNC] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 56

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58029	GRCh38/hg38 4q12-22.3(chr4:51831622-97505618)x3	LOC129389216, LOC129389217 +757 more	Copy number gain	See cases	GPathogenic
Select item 1098574	GRCh38/hg38 4q12-21.1(chr4:51891814-76009719)x1	ENAM, LOC123477761 +360 more	Copy number loss	Piebaldism	GPathogenic
Select item 1684642	NC_000004.12:g.67833055_82716065del	LOC129992745, LOC129992746 +330 more	Deletion	See cases	GPathogenic
Select item 155391	GRCh38/hg38 4q13.2-22.3(chr4:68686088-95294456)x3	LOC129992695, LOC129992696 +533 more	Copy number gain	See cases	GPathogenic
Select item 58031	GRCh38/hg38 4q13.3-21.21(chr4:71128874-78099088)x3	ADAMTS3, AFM +166 more	Copy number gain	See cases	GPathogenic
Select item 149262	GRCh38/hg38 4q13.3-21.3(chr4:72262258-86002147)x3	ABRAXAS1, ADAMTS3 +331 more	Copy number gain	See cases	GPathogenic
Select item 57143	GRCh38/hg38 4q21.1-21.23(chr4:75453111-84094295)x1	LOC129992714, LOC129992715 +236 more	Copy number loss	See cases	GPathogenic
Select item 2205906	NM_001330724.2(CDKL2):c.1709A>G (p.His570Arg)	CDKL2 (H493R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3265518	NM_001330724.2(CDKL2):c.1303A>C (p.Ile435Leu)	CDKL2 (I435L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2400798	NM_001330724.2(CDKL2):c.1292G>T (p.Gly431Val)	CDKL2 (G431V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509849	NM_001330724.2(CDKL2):c.1204G>A (p.Val402Met)	CDKL2 (V402M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141626	NM_001330724.2(CDKL2):c.1073G>C (p.Gly358Ala)	CDKL2 (G358A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325322	NM_001330724.2(CDKL2):c.1052A>T (p.Tyr351Phe)	CDKL2 (Y351F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495011	NM_001330724.2(CDKL2):c.1025C>A (p.Thr342Asn)	CDKL2 (T342N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490128	NM_001330724.2(CDKL2):c.992T>C (p.Val331Ala)	CDKL2 (V331A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141629	NM_001330724.2(CDKL2):c.980A>T (p.Asp327Val)	CDKL2 (D327V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377464	NM_001330724.2(CDKL2):c.911T>C (p.Val304Ala)	CDKL2 (V304A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3265521	NM_001330724.2(CDKL2):c.804A>T (p.Leu268Phe)	CDKL2 (L268F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310659	NM_001330724.2(CDKL2):c.772G>A (p.Glu258Lys)	CDKL2 (E258K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352173	NM_001330724.2(CDKL2):c.754C>T (p.Arg252Cys)	CDKL2 (R252C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556444	NM_001330724.2(CDKL2):c.679G>A (p.Glu227Lys)	CDKL2 (E227K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478962	NM_001330724.2(CDKL2):c.677A>C (p.Gln226Pro)	CDKL2 (Q226P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471144	NM_001330724.2(CDKL2):c.659A>G (p.Asn220Ser)	CDKL2 (N220S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141628	NM_001330724.2(CDKL2):c.583A>T (p.Met195Leu)	CDKL2 (M195L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383349	NM_001330724.2(CDKL2):c.514C>A (p.Leu172Ile)	CDKL2 (L172I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285856	NM_001330724.2(CDKL2):c.457G>A (p.Ala153Thr)	CDKL2 (A153T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596577	NM_001330724.2(CDKL2):c.446G>A (p.Arg149Gln)	CDKL2 (R149Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3265520	NM_001330724.2(CDKL2):c.371A>G (p.His124Arg)	CDKL2 (H124R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306147	NM_001330724.2(CDKL2):c.370C>G (p.His124Asp)	CDKL2 (H124D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257032	NM_001330724.2(CDKL2):c.307G>A (p.Val103Ile)	CDKL2 (V103I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311837	NM_001330724.2(CDKL2):c.293T>G (p.Leu98Arg)	CDKL2 (L98R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391012	NM_001330724.2(CDKL2):c.257C>G (p.Thr86Arg)	CDKL2 (T86R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533609	NM_001330724.2(CDKL2):c.196C>T (p.Leu66Phe)	CDKL2 (L66F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141627	NM_001330724.2(CDKL2):c.172C>T (p.Leu58Phe)	CDKL2 (L58F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489261	NM_001330724.2(CDKL2):c.139A>G (p.Ile47Val)	CDKL2 (I47V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3265519	NM_001330724.2(CDKL2):c.76A>C (p.Thr26Pro)	CDKL2 (T26P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526611	NM_001330724.2(CDKL2):c.16A>G (p.Asn6Asp)	CDKL2 (N6D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062778	GRCh37/hg19 4q13.3-21.21(chr4:74822261-79345650)x1	AREG, ART3 +37 more	Copy number loss	not specified	GUncertain significance
Select item 3024631	GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3	HPGDS, SCRG1 +537 more	Copy number gain	not provided	GPathogenic
Select item 1527098	GRCh37/hg19 4q13.3-21.1(chr4:75876865-76546874)	CDKL2, ODAPH +3 more	Copy number gain	not specified	GUncertain significance
Select item 1527097	GRCh37/hg19 4q13.3-22.1(chr4:75737340-91131156)	ABCG2, ABRAXAS1 +91 more	Copy number gain	not specified	GPathogenic
Select item 1527095	GRCh37/hg19 4q13.3-21.21(chr4:73055313-80083154)	CXCL5, CXCL6 +51 more	Copy number loss	not specified	GPathogenic
Select item 1456083	NC_000004.11:g.(?_76481293)_(77700330_?)del	ART3, CCDC158 +16 more	Deletion	Progressive myoclonic epilepsy	GPathogenic
Select item 1340346	GRCh37/hg19 4q13.3-21.1(chr4:75617591-76926681)x3	BTC, CDKL2 +10 more	Copy number gain	not provided	GUncertain significance
Select item 1340288	GRCh37/hg19 4q12-31.21(chr4:52866944-143582507)x3	AASDH, ABCG2 +359 more	Copy number gain	not provided	GPathogenic
Select item 983172	GRCh37/hg19 4q13.3-21.3(chr4:71412409-87920784)x1	ABRAXAS1, ADAMTS3 +97 more	Copy number loss	See cases	GPathogenic
Select item 814566	GRCh37/hg19 4q13.3-21.23(chr4:72680879-86426232)x1	CXCL3, LIN54 +82 more	Copy number loss	not provided	GPathogenic
Select item 814563	GRCh37/hg19 4q13.2-21.21(chr4:68950363-79738598)x1	ADAMTS3, AFM +92 more	Copy number loss	not provided	GPathogenic
Select item 685523	GRCh37/hg19 4q13.3-21.1(chr4:71561780-78304341)x1	ADAMTS3, AFM +51 more	Copy number loss	not provided	GPathogenic
Select item 685236	GRCh37/hg19 4q13.2-21.22(chr4:68242784-82991431)x3	CCNG2, CCNI +109 more	Copy number gain	not provided	GPathogenic
Select item 562933	GRCh37/hg19 4q13.3-21.1(chr4:75353931-77183033)x1	BTC, PARM1 +17 more	Copy number loss	not provided	GUncertain significance
Select item 562932	GRCh37/hg19 4q13.3-21.1(chr4:74890695-77318961)x1	CDKL2, AREG +25 more	Copy number loss	not provided	GUncertain significance
Select item 443262	GRCh37/hg19 4q13.1-21.1(chr4:66017575-76772947)x1	ADAMTS3, AFM +75 more	Copy number loss	See cases	GPathogenic
Select item 441728	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)	AADAT, AASDH +745 more	Copy number gain	See cases	GPathogenic
Select item 441727	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3	MRPL1, MSANTD1 +745 more	Copy number gain	See cases	GPathogenic
Select item 394609	GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3	H2AZ1, HADH +744 more	Copy number gain	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 56