ClinVar for Gene (Select 344387) - ClinVar

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Links from Gene

Items: 49

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3265533	NM_001397900.1(CDKL4):c.544G>A (p.Val182Ile)	CDKL4 (V182I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3265532	NM_001397900.1(CDKL4):c.28A>G (p.Thr10Ala)	CDKL4 (T10A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3148852	GRCh37/hg19 2p22.1(chr2:39234590-40799474)x3	CDKL4, MAP4K3 +4 more	Copy number gain	not provided	GUncertain significance
Select item 3141640	NM_001397900.1(CDKL4):c.733A>G (p.Met245Val)	CDKL4 (M245V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3141639	NM_001397900.1(CDKL4):c.547G>A (p.Asp183Asn)	CDKL4 (D183N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3141638	NM_001397900.1(CDKL4):c.368T>G (p.Ile123Ser)	CDKL4 (I123S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3141637	NM_001397900.1(CDKL4):c.359A>G (p.His120Arg)	CDKL4 (H120R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3062647	GRCh37/hg19 2p23.1-21(chr2:30814984-42798684)x1	ARHGEF33, ATL2 +52 more	Copy number loss	not specified	GPathogenic
Select item 3062621	GRCh37/hg19 2p22.1(chr2:39264431-39630997)x3	CDKL4, MAP4K3 +1 more	Copy number gain	not specified	GUncertain significance
Select item 2604646	NM_001397900.1(CDKL4):c.315C>A (p.Ser105Arg)	CDKL4 (S105R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2588787	NM_001397900.1(CDKL4):c.46G>A (p.Gly16Arg)	CDKL4 (G16R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2528677	NM_001397900.1(CDKL4):c.760G>C (p.Asp254His)	CDKL4 (D254H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2495413	NM_001397900.1(CDKL4):c.475G>A (p.Asp159Asn)	CDKL4 (D159N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2422665	NC_000002.11:g.(?_38121051)_(47710088_?)dup	CAMKMT, CDKL4 +52 more	Duplication	Hereditary nonpolyposis colorectal neoplasms	GUncertain significance
Select item 2378409	NM_001397900.1(CDKL4):c.752A>G (p.Lys251Arg)	CDKL4 (K251R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2341495	NM_001397900.1(CDKL4):c.115G>A (p.Glu39Lys)	CDKL4 (E39K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2336568	NM_001397900.1(CDKL4):c.103T>A (p.Phe35Ile)	CDKL4 (F35I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2267010	NM_001397900.1(CDKL4):c.895C>T (p.Arg299Cys)	CDKL4 (R299C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2221677	NM_001397900.1(CDKL4):c.500G>A (p.Arg167Gln)	CDKL4 (R167Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1808967	GRCh37/hg19 2p22.1(chr2:39266694-39622510)x1	CDKL4, MAP4K3 +1 more	Copy number loss	not provided	GUncertain significance
Select item 1708190	GRCh37/hg19 2p25.1-q13(chr2:11504318-111365996)x1	ACTG2, ACTR1B +529 more	Copy number loss	See cases	GPathogenic
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 1527803	GRCh37/hg19 2p23.2-21(chr2:29899368-42441440)	ALK, ARHGEF33 +52 more	Copy number loss	not specified	GPathogenic
Select item 1220534	GRCh37/hg19 2p23.3-21(chr2:24601818-43466284)x3	OTOF, OXER1 +131 more	Copy number gain	See cases	GPathogenic
Select item 1176757	GRCh37/hg19 2p23.3-21(chr2:24881528-43460021)x3	DNAJC27, DNAJC5G +131 more	Copy number gain	not provided	GLikely pathogenic
Select item 992790	Single allele	CDKL4, MAP4K3 +1 more	Duplication	Heart, malformation of +1 more	GUncertain significance
Select item 979968	GRCh37/hg19 2p22.2-22.1(chr2:38012532-39548268)x3	GALM, SRSF7 +12 more	Copy number gain	not provided	GUncertain significance
Select item 814238	GRCh37/hg19 2p22.1(chr2:39264474-39626960)x3	SOS1, CDKL4 +1 more	Copy number gain	not provided	GLikely benign
Select item 814237	GRCh37/hg19 2p22.1(chr2:39261250-39626960)x3	SOS1, CDKL4 +1 more	Copy number gain	not provided	GLikely benign
Select item 814236	GRCh37/hg19 2p22.1(chr2:39261250-39631150)x3	CDKL4, SOS1 +1 more	Copy number gain	not provided	GUncertain significance
Select item 635956	NC_000002.11:g.39053852_42501893dup	SLC8A1, SOS1 +11 more	Duplication	Neurodevelopmental disorder	GLikely pathogenic
Select item 562680	GRCh37/hg19 2p22.3-16.1(chr2:34792916-56676541)x3	ABCG5, ABCG8 +100 more	Copy number gain	not provided	GPathogenic
Select item 547174	inv(2)(p21p23.2)	RASGRP3, HNRNPLL +52 more	Inversion	Endometrial carcinoma	GLikely pathogenic
Select item 487484	t(2;2)(p23;p21)(hg19 chr2:g.42552694::ochr2:g.29446394)	ALK, ARHGEF33 +52 more	Inversion	Small cell lung carcinoma	GPathogenic
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	RGPD4, RGPD5 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	IL1F10, IL1R1 +1214 more	Copy number gain	See cases	GPathogenic
Select item 429039	NC_000002.11:g.38121110_47669522inv	ABCG5, KCNG3 +52 more	Inversion	Hereditary nonpolyposis colorectal neoplasms	GPathogenic
Select item 402127	GRCh37/hg19 2p23.3-16.1(chr2:27861707-60790985)x3	ABCG5, ABCG8 +139 more	Copy number gain	See cases	GPathogenic
Select item 394466	GRCh37/hg19 2p23.2-21(chr2:28069882-43543420)x3	ALK, ARHGEF33 +70 more	Copy number gain	See cases	GPathogenic
Select item 253790	GRCh37/hg19 2p22.1(chr2:39293817-39649180)x3	CDKL4, SOS1 +1 more	Copy number gain	See cases	GUncertain significance
Select item 155615	GRCh38/hg38 2p25.3-21(chr2:236816-45983232)x3	LINC01115, LINC01121 +1400 more	Copy number gain	See cases	GPathogenic
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	HAAO, HADHA +2457 more	Copy number gain	See cases	GBenign
Select item 151417	GRCh38/hg38 2p22.1(chr2:39037130-39390808)x3	CDKL4, LOC112840931 +13 more	Copy number gain	See cases	GUncertain significance
Select item 150617	GRCh38/hg38 2p22.2-21(chr2:37000557-41954686)x1	ARHGEF33, ATL2 +154 more	Copy number loss	See cases	GPathogenic
Select item 146924	GRCh38/hg38 2p22.1(chr2:39054693-39369157)x3	CDKL4, LOC112840931 +13 more	Copy number gain	See cases	GUncertain significance
Select item 146912	GRCh38/hg38 2p22.1(chr2:39185829-39378125)x3	CDKL4, LOC129388850 +2 more	Copy number gain	See cases	GBenign
Select item 146813	GRCh38/hg38 2p22.1(chr2:39037204-39369028)x3	CDKL4, LOC112840931 +13 more	Copy number gain	See cases	GUncertain significance
Select item 59133	GRCh38/hg38 2p25.3-16.1(chr2:66097-55570637)x3	LOC129933311, LOC129933312 +1631 more	Copy number gain	See cases	GPathogenic
Select item 58841	GRCh38/hg38 2p22.1(chr2:39036084-39379226)x3	CDKL4, LOC112840931 +13 more	Copy number gain	See cases	GUncertain significance

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Links from Gene

Items: 49