1469[HGNC] - ClinVar

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Items: 76

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154089	GRCh38/hg38 17p13.3-12(chr17:150732-14764202)x3	ABR, ABR-AS1 +962 more	Copy number gain	See cases	GPathogenic
Select item 153177	GRCh38/hg38 17p13.3-13.2(chr17:150732-5935377)x1	ABR, ABR-AS1 +463 more	Copy number loss	See cases	GPathogenic
Select item 149531	GRCh38/hg38 17p13.3-12(chr17:162016-12343901)x3	LOC130059883, LOC130059884 +922 more	Copy number gain	See cases	GPathogenic
Select item 149158	GRCh38/hg38 17p13.3-13.1(chr17:162016-7697012)x1	TRARG1, TRPV1 +651 more	Copy number loss	See cases	GPathogenic
Select item 144699	GRCh38/hg38 17p13.3-13.1(chr17:162088-6959050)x1	ABR, ABR-AS1 +498 more	Copy number loss	See cases	GPathogenic
Select item 2579287	GRCh38/hg38 17p13.3-12(chr17:165730-11404096)x3	SAT2, SCARF1 +911 more	Copy number gain	Chromosome 17p13.3 duplication syndrome	GPathogenic
Select item 59542	GRCh38/hg38 17p13.3-13.2(chr17:193307-5652222)x1	LOC121848004, LOC121848005 +457 more	Copy number loss	See cases	GPathogenic
Select item 154373	GRCh38/hg38 17p13.3-13.2(chr17:198748-4265640)x1	ABR, ABR-AS1 +303 more	Copy number loss	See cases	GPathogenic
Select item 145642	GRCh38/hg38 17p13.3-13.1(chr17:198748-7491129)x3	LOC130059937, LOC130059938 +604 more	Copy number gain	See cases	GPathogenic
Select item 153060	GRCh38/hg38 17p13.3-13.2(chr17:237248-4735533)x1	LOC130059930, LOC130059931 +352 more	Copy number loss	See cases	GPathogenic
Select item 144239	GRCh38/hg38 17p13.3-13.2(chr17:2062380-5258340)x1	CAMKK1, CAMTA2 +303 more	Copy number loss	See cases	GPathogenic
Select item 150948	GRCh38/hg38 17p13.3-13.2(chr17:2062429-4141883)x3	ASPA, ATP2A3 +166 more	Copy number gain	See cases	GPathogenic
Select item 58677	GRCh38/hg38 17p13.3-13.2(chr17:2357067-4328426)x3	ANKFY1, ASPA +126 more	Copy number gain	See cases	GPathogenic
Select item 153806	GRCh38/hg38 17p13.3-13.2(chr17:3168370-3862518)x3	ASPA, CAMKK1 +48 more	Copy number gain	See cases	GUncertain significance
Select item 154726	GRCh38/hg38 17p13.3-13.2(chr17:3187406-3880628)x3	ASPA, CAMKK1 +48 more	Copy number gain	See cases	GUncertain significance
Select item 59563	GRCh38/hg38 17p13.2-13.1(chr17:3601515-7178024)x1	AIPL1, ALOX12 +290 more	Copy number loss	See cases	GPathogenic
Select item 151168	GRCh38/hg38 17p13.2(chr17:3782655-4472701)x3	ANKFY1, ATP2A3 +50 more	Copy number gain	See cases	GUncertain significance
Select item 3263018	NM_032294.3(CAMKK1):c.1456T>C (p.Phe486Leu)	CAMKK1 (F486L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589549	NM_032294.3(CAMKK1):c.1403G>A (p.Arg468Gln)	CAMKK1 (R506Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528147	NM_032294.3(CAMKK1):c.1400C>A (p.Ala467Glu)	CAMKK1 (A494E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136806	NM_032294.3(CAMKK1):c.1370G>A (p.Arg457His)	CAMKK1 (R484H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404911	NM_032294.3(CAMKK1):c.1305G>T (p.Lys435Asn)	CAMKK1 (K435N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404972	NM_032294.3(CAMKK1):c.1276G>A (p.Val426Met)	CAMKK1 (V464M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456216	NM_032294.3(CAMKK1):c.1266G>C (p.Glu422Asp)	CAMKK1 (E449D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601857	NM_032294.3(CAMKK1):c.1240G>A (p.Glu414Lys)	CAMKK1 (E441K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136805	NM_032294.3(CAMKK1):c.1186A>G (p.Thr396Ala)	CAMKK1 (T396A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483420	NM_032294.3(CAMKK1):c.1183G>C (p.Glu395Gln)	CAMKK1 (E395Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2647242	NM_032294.3(CAMKK1):c.1182C>T (p.Pro394=)	CAMKK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3136804	NM_032294.3(CAMKK1):c.1141G>A (p.Glu381Lys)	CAMKK1 (E381K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263021	NM_032294.3(CAMKK1):c.1136G>T (p.Ser379Ile)	CAMKK1 (S379I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257648	NM_032294.3(CAMKK1):c.1066G>A (p.Asp356Asn)	CAMKK1 (D356N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136803	NM_032294.3(CAMKK1):c.1021G>A (p.Val341Ile)	CAMKK1 (V379I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277994	NM_032294.3(CAMKK1):c.943G>A (p.Ala315Thr)	CAMKK1 (A342T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136812	NM_032294.3(CAMKK1):c.929C>T (p.Thr310Met)	CAMKK1 (T337M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357492	NM_032294.3(CAMKK1):c.864C>A (p.His288Gln)	CAMKK1 (H315Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218849	NM_032294.3(CAMKK1):c.814G>A (p.Val272Ile)	CAMKK1 (V272I +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3263019	NM_032294.3(CAMKK1):c.758G>A (p.Arg253His)	CAMKK1 (R253H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263020	NM_032294.3(CAMKK1):c.757C>T (p.Arg253Cys)	CAMKK1 (R253C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611488	NM_032294.3(CAMKK1):c.727T>C (p.Cys243Arg)	CAMKK1 (C281R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136811	NM_032294.3(CAMKK1):c.719A>G (p.Glu240Gly)	CAMKK1 (E240G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136810	NM_032294.3(CAMKK1):c.584G>A (p.Arg195Gln)	CAMKK1 (R195Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136809	NM_032294.3(CAMKK1):c.457C>T (p.His153Tyr)	CAMKK1 (H153Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136808	NM_032294.3(CAMKK1):c.440A>G (p.Asn147Ser)	CAMKK1 (N174S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249776	NM_032294.3(CAMKK1):c.367G>A (p.Val123Met)	CAMKK1 (V123M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406722	NM_032294.3(CAMKK1):c.298T>A (p.Ser100Thr)	CAMKK1 (S127T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263022	NM_032294.3(CAMKK1):c.289A>G (p.Ser97Gly)	CAMKK1 (S97G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293115	NM_032294.3(CAMKK1):c.170G>C (p.Ser57Thr)	CAMKK1 (S57T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489354	NM_032294.3(CAMKK1):c.140G>A (p.Arg47Gln)	CAMKK1 (R74Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548237	NM_032294.3(CAMKK1):c.137C>G (p.Pro46Arg)	CAMKK1 (P73R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263023	NM_032294.3(CAMKK1):c.130C>G (p.Pro44Ala)	CAMKK1 (P44A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327817	NM_032294.3(CAMKK1):c.70G>A (p.Asp24Asn)	CAMKK1 (D24N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136807	NM_032294.3(CAMKK1):c.38G>A (p.Arg13Gln)	CAMKK1 (R13Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524538	NM_032294.3(CAMKK1):c.13C>A (p.Pro5Thr)	CAMKK1 (P32T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3243205	NC_000017.10:g.(?_422368)_(8285628_?)dup	FBXO39, FGF11 +209 more	Duplication	not provided	GUncertain significance
Select item 3063486	GRCh37/hg19 17p13.3-11.2(chr17:525-21510992)x3	ABR, ACADVL +329 more	Copy number gain	not specified	GPathogenic
Select item 3063485	GRCh37/hg19 17p13.3-13.2(chr17:9474-6017500)x1	ABR, ALOX15 +116 more	Copy number loss	not specified	GPathogenic
Select item 2671597	Single allele	ABR, ALOX15 +80 more	Deletion	not provided	GPathogenic
Select item 2422206	NC_000017.10:g.(?_3379454)_(3819519_?)del	ASPA, CAMKK1 +11 more	Deletion	Spongy degeneration of central nervous system	GPathogenic
Select item 1403973	NC_000017.10:g.(?_2541583)_(3819519_?)del	ASPA, CAMKK1 +26 more	Deletion	not provided	GPathogenic
Select item 1340632	GRCh37/hg19 17p13.2(chr17:3652068-3872306)x3	ATP2A3, CAMKK1 +3 more	Copy number gain	not provided	GUncertain significance
Select item 972966	GRCh37/hg19 17p13.2(chr17:3543270-4045261)x3	ATP2A3, HASPIN +9 more	Copy number gain	not provided	Gnot provided
Select item 816504	GRCh37/hg19 17p13.3-13.2(chr17:8547-5627408)x1	ABR, ALOX15 +115 more	Copy number loss	See cases	GPathogenic
Select item 688934	GRCh37/hg19 17p13.2(chr17:3759126-6128911)x1	ALOX15, ANKFY1 +48 more	Copy number loss	not provided	GUncertain significance
Select item 687161	GRCh37/hg19 17p13.2(chr17:3785678-4162530)x3	ANKFY1, ATP2A3 +4 more	Copy number gain	not provided	GUncertain significance
Select item 625578	GRCh37/hg19 17p13.3-13.2(chr17:47546-6287620)	ABR, ALOX15 +115 more	Copy number gain	Chromosome 17P13.3, telomeric, duplication syndrome	GPathogenic
Select item 564391	GRCh37/hg19 17p13.2(chr17:3737355-4266446)x3	CYB5D2, NCBP3 +6 more	Copy number gain	not provided	GUncertain significance
Select item 564377	GRCh37/hg19 17p13.3-12(chr17:525-11186432)x3	ABR, ACADVL +240 more	Copy number gain	not provided	GPathogenic
Select item 524180	t(17;21)(p13;q21)dn	CAMKK1	Translocation	not specified	GUncertain significance
Select item 443659	GRCh37/hg19 17p13.3-12(chr17:525-15027737)x3	ABR, ACADVL +250 more	Copy number gain	See cases	GPathogenic
Select item 443023	GRCh37/hg19 17p13.3-13.2(chr17:525-3825428)x1	ABR, ASPA +68 more	Copy number loss	See cases	GPathogenic
Select item 442031	GRCh37/hg19 17p13.3-13.2(chr17:525-4151421)x3	ABR, ANKFY1 +72 more	Copy number gain	See cases	GPathogenic
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	ALOX12, ALOX12B +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	SPEM2, TBCD +1143 more	Copy number gain	See cases	GPathogenic
Select item 441650	GRCh37/hg19 17p13.2(chr17:3543270-4045261)x3	ATP2A3, CAMKK1 +9 more	Copy number gain	See cases	GLikely benign
Select item 395716	GRCh37/hg19 17p13.3-13.1(chr17:1113102-6742486)	AIPL1, ALOX15 +115 more	Copy number gain	See cases	GPathogenic
Select item 253507	GRCh37/hg19 17p13.3-13.2(chr17:919381-4046915)x3	ABR, ASPA +60 more	Copy number gain	See cases	GPathogenic

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Items: 76