CAMK1G[gene] - ClinVar

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Items: 45

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58112	GRCh38/hg38 1q31.1-42.11(chr1:187143981-224299417)x3	PIK3C2B, PKP1 +1147 more	Copy number gain	See cases	GPathogenic
Select item 153790	GRCh38/hg38 1q32.1-42.12(chr1:204764914-225408698)x3	LOC129388734, LOC129388735 +723 more	Copy number gain	See cases	GPathogenic
Select item 155660	GRCh38/hg38 1q32.2-44(chr1:207346642-248930485)x3	ABCB10, ACBD3 +1427 more	Copy number gain	See cases	GPathogenic
Select item 150129	GRCh38/hg38 1q32.2(chr1:207583527-210159181)x1	C1orf74, CAMK1G +97 more	Copy number loss	See cases	GPathogenic
Select item 1809607	GRCh38/hg38 1q32.2-42.13(chr1:228006998-228061271)x2	LOC126806029, LOC129932471 +720 more	Copy number loss	Orofacial cleft 2	Gassociation
Select item 2222839	NM_020439.3(CAMK1G):c.34T>C (p.Trp12Arg)	CAMK1G (W12R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136785	NM_020439.3(CAMK1G):c.53A>G (p.Asn18Ser)	CAMK1G (N18S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136779	NM_020439.3(CAMK1G):c.106G>C (p.Glu36Gln)	CAMK1G (E36Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205911	NM_020439.3(CAMK1G):c.142C>T (p.Leu48Phe)	CAMK1G (L48F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368857	NM_020439.3(CAMK1G):c.181C>T (p.Arg61Trp)	CAMK1G (R61W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399595	NM_020439.3(CAMK1G):c.323G>A (p.Arg108Gln)	CAMK1G (R108Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376647	NM_020439.3(CAMK1G):c.335G>A (p.Arg112Gln)	CAMK1G (R112Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233286	NM_020439.3(CAMK1G):c.335G>T (p.Arg112Leu)	CAMK1G (R112L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362083	NM_020439.3(CAMK1G):c.790G>A (p.Glu264Lys)	CAMK1G, LOC126805998 (E264K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334448	NM_020439.3(CAMK1G):c.811G>A (p.Ala271Thr)	CAMK1G, LOC126805998 (A271T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334449	NM_020439.3(CAMK1G):c.812C>A (p.Ala271Asp)	CAMK1G, LOC126805998 (A271D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357785	NM_020439.3(CAMK1G):c.891G>T (p.Lys297Asn)	CAMK1G (K297N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480226	NM_020439.3(CAMK1G):c.905G>T (p.Ser302Ile)	CAMK1G (S302I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470911	NM_020439.3(CAMK1G):c.953G>A (p.Arg318Lys)	CAMK1G (R318K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284401	NM_020439.3(CAMK1G):c.965T>A (p.Met322Lys)	CAMK1G (M322K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136778	NM_020439.3(CAMK1G):c.1010C>T (p.Pro337Leu)	CAMK1G (P337L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312592	NM_020439.3(CAMK1G):c.1112C>A (p.Thr371Asn)	CAMK1G (T371N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360853	NM_020439.3(CAMK1G):c.1136G>A (p.Arg379His)	CAMK1G (R379H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136780	NM_020439.3(CAMK1G):c.1138C>T (p.Arg380Trp)	CAMK1G (R380W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136781	NM_020439.3(CAMK1G):c.1139G>A (p.Arg380Gln)	CAMK1G (R380Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136782	NM_020439.3(CAMK1G):c.1276G>T (p.Gly426Trp)	CAMK1G (G426W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487986	NM_020439.3(CAMK1G):c.1291T>C (p.Ser431Pro)	CAMK1G (S431P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136783	NM_020439.3(CAMK1G):c.1362G>A (p.Met454Ile)	CAMK1G (M454I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273504	NM_020439.3(CAMK1G):c.1396C>T (p.Arg466Trp)	CAMK1G (R466W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525507	NM_020439.3(CAMK1G):c.1397G>A (p.Arg466Gln)	CAMK1G (R466Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345035	NM_020439.3(CAMK1G):c.1400C>T (p.Ala467Val)	CAMK1G (A467V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1809264	GRCh37/hg19 1q25.3-32.3(chr1:181453460-213107248)x3	IGFN1, IKBKE +211 more	Copy number gain	not provided	GPathogenic
Select item 1708464	GRCh37/hg19 1q31.3-44(chr1:197867914-249224684)x3	ABCB10, ACBD3 +381 more	Copy number gain	See cases	GPathogenic
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	CA14, CACNA1E +956 more	Duplication	Gastrointestinal stromal tumor +2 more	GUncertain significance
Select item 979929	GRCh37/hg19 1q32.2(chr1:208703835-210154164)x3	G0S2, TRAF3IP3 +9 more	Copy number gain	not provided	GUncertain significance
Select item 972964	GRCh37/hg19 1q31.3-32.2(chr1:194356425-210988710)x3	CSRP1, PPFIA4 +145 more	Copy number gain	not provided	Gnot provided
Select item 816482	GRCh37/hg19 1q32.1-44(chr1:204045948-249218992)x3	C1orf35, C1orf74 +320 more	Copy number gain	See cases	GPathogenic
Select item 688022	GRCh37/hg19 1q32.1-32.3(chr1:206329070-213263817)x3	ANGEL2, ATF3 +63 more	Copy number gain	not provided	GUncertain significance
Select item 685144	GRCh37/hg19 1q25.3-44(chr1:182388773-249111240)x3	CAPN9, CATSPERE +433 more	Copy number gain	not provided	GPathogenic
Select item 523270	GRCh37/hg19 1q32.1-32.3(chr1:204682513-212815646)	EIF2D, LPGAT1 +75 more	Copy number loss	Global developmental delay +2 more	GPathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	BCAS2, CNTN2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	FAM76A, FAM78B +2014 more	Copy number gain	See cases	GPathogenic
Select item 395067	GRCh37/hg19 1q32.2(chr1:209742722-210774573)x1	C1orf74, CAMK1G +9 more	Copy number loss	See cases	GPathogenic
Select item 394081	GRCh37/hg19 1q31.3-44(chr1:195483439-249213000)x3	EGLN1, EIF2D +393 more	Copy number gain	See cases	GPathogenic
Select item 253654	GRCh37/hg19 1q31.3-42.13(chr1:197811907-228997888)x3	ACBD3, ADIPOR1 +242 more	Copy number gain	See cases	GPathogenic

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Items: 45