ClinVar for Gene (Select 10645) - ClinVar

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Links from Gene

Items: 59

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3263026	NM_001270485.2(CAMKK2):c.30C>A (p.Ser10Arg)	CAMKK2 (S10R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263024	NM_001270485.2(CAMKK2):c.461C>T (p.Thr154Met)	CAMKK2 (T154M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3244353	NC_000012.11:g.(?_121416034)_(122985387_?)del	ZCCHC8, ANAPC5 +24 more	Deletion	not provided	GPathogenic
Select item 3244258	NC_000012.11:g.(?_120270555)_(124242579_?)dup	ABCB9, ACADS +73 more	Duplication	Deficiency of butyryl-CoA dehydrogenase	GUncertain significance
Select item 3136823	NM_001270485.2(CAMKK2):c.801C>T (p.Phe267=)	CAMKK2	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3136822	NM_001270485.2(CAMKK2):c.451G>A (p.Val151Ile)	CAMKK2 (V151I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136821	NM_001270485.2(CAMKK2):c.44C>T (p.Ala15Val)	CAMKK2 (A15V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136820	NM_001270485.2(CAMKK2):c.290G>T (p.Arg97Leu)	CAMKK2 (R97L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136818	NM_001270485.2(CAMKK2):c.215G>A (p.Arg72Gln)	CAMKK2 (R72Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136817	NM_001270485.2(CAMKK2):c.1709C>T (p.Pro570Leu)	CAMKK2 (P570L +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3136816	NM_001270485.2(CAMKK2):c.1702C>G (p.Pro568Ala)	CAMKK2 (P525A +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3136815	NM_001270485.2(CAMKK2):c.1481G>A (p.Arg494His)	CAMKK2 (R451H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136814	NM_001270485.2(CAMKK2):c.1240G>A (p.Asp414Asn)	CAMKK2 (D414N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136813	NM_001270485.2(CAMKK2):c.113G>A (p.Arg38Gln)	CAMKK2 (R38Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2684685	GRCh37/hg19 12q24.31-24.33(chr12:121551496-133777902)x3	AACS, ABCB9 +93 more	Copy number gain	not provided	GPathogenic
Select item 2684684	GRCh37/hg19 12q24.31-24.33(chr12:120880079-133777902)x3	AACS, ABCB9 +108 more	Copy number gain	not provided	GPathogenic
Select item 2620522	NM_001270485.2(CAMKK2):c.1742C>T (p.Pro581Leu)	CAMKK2 (P538L +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2580326	GRCh37/hg19 12q24.31(chr12:121341598-124103434)x3	ABCB9, ANAPC5 +48 more	Copy number gain	See cases	GUncertain significance
Select item 2542137	NM_001270485.2(CAMKK2):c.1739G>A (p.Arg580Gln)	CAMKK2 (R537Q +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2519884	NM_001270485.2(CAMKK2):c.67A>G (p.Arg23Gly)	CAMKK2 (R23G)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2518417	NM_001270485.2(CAMKK2):c.391G>A (p.Val131Ile)	CAMKK2 (V131I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514194	NM_001270485.2(CAMKK2):c.1753A>G (p.Met585Val)	CAMKK2 (M542V +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2512672	NM_001270485.2(CAMKK2):c.37C>T (p.Arg13Trp)	CAMKK2 (R13W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399972	NM_001270485.2(CAMKK2):c.1480C>T (p.Arg494Cys)	CAMKK2 (R494C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327632	NM_001270485.2(CAMKK2):c.665G>T (p.Gly222Val)	CAMKK2 (G222V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318927	NM_001270485.2(CAMKK2):c.277C>T (p.His93Tyr)	CAMKK2 (H93Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298944	NM_001270485.2(CAMKK2):c.680G>A (p.Arg227Lys)	CAMKK2 (R227K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278594	NM_001270485.2(CAMKK2):c.374C>T (p.Ser125Phe)	CAMKK2 (S125F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273505	NM_001270485.2(CAMKK2):c.175G>A (p.Glu59Lys)	CAMKK2 (E59K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259354	NM_001270485.2(CAMKK2):c.427C>T (p.Arg143Trp)	CAMKK2 (R143W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254438	NM_001270485.2(CAMKK2):c.112C>T (p.Arg38Trp)	CAMKK2 (R38W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240308	NM_001270485.2(CAMKK2):c.1171A>T (p.Met391Leu)	CAMKK2 (M391L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214053	NM_001270485.2(CAMKK2):c.169G>A (p.Glu57Lys)	CAMKK2 (E57K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206343	NM_001270485.2(CAMKK2):c.1042G>T (p.Val348Leu)	CAMKK2 (V348L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206009	NM_001270485.2(CAMKK2):c.371C>T (p.Pro124Leu)	CAMKK2 (P124L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2203946	NM_001270485.2(CAMKK2):c.65G>A (p.Gly22Asp)	CAMKK2 (G22D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808547	GRCh37/hg19 12q24.31(chr12:121551496-121771295)x3	ANAPC5, CAMKK2 +2 more	Copy number gain	not provided	GUncertain significance
Select item 1330196	GRCh37/hg19 12q24.22-24.33(chr12:117461902-133841395)x3	AACS, ABCB9 +135 more	Copy number gain	Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures	GLikely pathogenic
Select item 871740	NM_001270485.2(CAMKK2):c.1743_1752dup (p.Met585fs)	CAMKK2 (M542fs +1 more)	Duplication (frameshift variant +2 more)	not provided	GUncertain significance
Select item 781092	NM_001270485.2(CAMKK2):c.1053C>T (p.Pro351=)	CAMKK2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 781091	NM_001270485.2(CAMKK2):c.1235+3G>A	CAMKK2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 776759	NM_001270485.2(CAMKK2):c.66C>T (p.Gly22=)	CAMKK2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 776758	NM_001270485.2(CAMKK2):c.399C>T (p.Ser133=)	CAMKK2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 773688	NM_001270485.2(CAMKK2):c.450C>T (p.His150=)	CAMKK2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 771186	NM_001270485.2(CAMKK2):c.891C>T (p.Ile297=)	CAMKK2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 709905	NM_001270485.2(CAMKK2):c.354C>T (p.Asn118=)	CAMKK2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	SLC15A5, SLC16A7 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 394621	GRCh37/hg19 12q24.31(chr12:121441298-122107345)x3	ANAPC5, C12orf43 +8 more	Copy number gain	See cases	GUncertain significance
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	GALNT8, H2AJ +1007 more	Copy number gain	See cases	GPathogenic
Select item 155589	GRCh38/hg38 12q24.21-24.33(chr12:114268403-133201316)x3	LOC130009126, LOC130009127 +906 more	Copy number gain	See cases	GPathogenic
Select item 154387	GRCh38/hg38 12q24.31-24.32(chr12:120718786-127500215)x1	AACS, ABCB9 +416 more	Copy number loss	See cases	GPathogenic
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	ACAD10, ACADS +4836 more	Copy number gain	See cases	GPathogenic
Select item 148578	GRCh38/hg38 12q24.31-24.33(chr12:120697672-133202490)x3	AACS, ABCB9 +663 more	Copy number gain	See cases	GPathogenic
Select item 145853	GRCh38/hg38 12q24.31(chr12:121110993-121325874)x3	ANAPC5, CAMKK2 +11 more	Copy number gain	See cases	GLikely benign
Select item 59821	GRCh38/hg38 12q24.21-24.33(chr12:115131583-133166920)x3	LOC130009192, LOC130009193 +892 more	Copy number gain	See cases	GPathogenic
Select item 58232	GRCh38/hg38 12q24.23-24.31(chr12:119286893-122638552)x3	LOC130008976, LOC130008977 +264 more	Copy number gain	See cases	GUncertain significance
Select item 57609	GRCh38/hg38 12q24.31(chr12:120504068-122459718)x1	ACADS, ANAPC5 +175 more	Copy number loss	See cases	GPathogenic
Select item 57207	GRCh38/hg38 12q24.23-24.33(chr12:118165459-133182322)x3	LOC132090050, LOC132090051 +786 more	Copy number gain	See cases	GPathogenic

ClinVar

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Germline classification

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Links from Gene

Items: 59