ClinVar for Gene (Select 10645) - ClinVar

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

Links from Gene

Items: 55

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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)	HMGA2, HNF1A +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	AGAP2, ARF3 +1007 more	Copy number gain	See cases	GPathogenic
Select item 155589	GRCh38/hg38 12q24.21-24.33(chr12:114268403-133201316)x3	ANKLE2, ARL6IP4 +906 more	Copy number gain	See cases	GPathogenic
Select item 154387	GRCh38/hg38 12q24.31-24.32(chr12:120718786-127500215)x1	LOC130009086, LOC130009087 +416 more	Copy number loss	See cases	GPathogenic
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	LOC126861648, LOC126861649 +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	AACS, ABCB9 +892 more	Copy number gain	See cases	GPathogenic
Select item 58232	GRCh38/hg38 12q24.23-24.31(chr12:119286893-122638552)x3	ACADS, ANAPC5 +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	ZNF664, ZNF664-RFLNA +786 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

Links from Gene

Items: 55