ClinVar for Gene (Select 390598) - ClinVar - NCBI

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Links from Gene

Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2685520	GRCh37/hg19 15q23(chr15:67881929-68241646)x1	SKOR1, MAP2K5 +1 more	Copy number loss	not provided	GUncertain significance
Select item 2645485	NM_001365915.1(SKOR1):c.2067A>T (p.Pro689=)	SKOR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2645484	NM_001365915.1(SKOR1):c.1533G>A (p.Lys511=)	SKOR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2498630	GRCh37/hg19 15q22.33-26.1(chr15:67358491-91644328)x3	AAGAB, ABHD17C +209 more	Copy number gain	not provided	GPathogenic
Select item 1512687	NC_000015.9:g.(?_66161924)_(69018313_?)dup	AAGAB, C15orf61 +21 more	Duplication	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 1024934	NC_000015.9:g.(?_32964879)_(91358519_?)dup	CGNL1, MAPDA +472 more	Duplication	Familial colorectal cancer +1 more	GUncertain significance
Select item 685339	GRCh37/hg19 15q22.33-23(chr15:67369118-70481307)x1	AAGAB, ANP32A +19 more	Copy number loss	not provided	GPathogenic
Select item 564212	GRCh37/hg19 15q22.31-23(chr15:66861081-69213575)x1	AAGAB, ANP32A +13 more	Copy number loss	not provided	GPathogenic
Select item 560049	Single allele	PDIA3, PEAK1 +521 more	Duplication	not provided	GPathogenic
Select item 442893	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)x3	AAGAB, ABHD17C +559 more	Copy number gain	See cases	GPathogenic
Select item 442892	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)	NOX5, NPAP1 +559 more	Copy number gain	See cases	GPathogenic
Select item 395145	GRCh37/hg19 15q11.2-26.3(chr15:20733395-102511616)x4	CHRFAM7A, CHRM5 +566 more	Copy number gain	See cases	GPathogenic
Select item 394887	GRCh37/hg19 15q15.1-26.3(chr15:41745084-102354798)x4	ALDH1A2, ALDH1A3 +444 more	Copy number gain	See cases	GPathogenic
Select item 369835	GRCh37/hg19 15q22.1-26.3(chr15:59297293-102480888)x3	WHAMM, CCNB2 +308 more	Copy number gain	not provided	GLikely pathogenic
Select item 253516	GRCh37/hg19 15q22.31-26.3(chr15:64637227-102509910)x3	AAGAB, ABHD17C +278 more	Copy number gain	See cases	GPathogenic
Select item 154848	GRCh38/hg38 15q22.2-26.3(chr15:59828460-101920998)x3	LOC130057927, LOC130057928 +1764 more	Copy number gain	See cases	GPathogenic
Select item 59379	GRCh38/hg38 15q22.33-23(chr15:67194581-69086285)x1	AAGAB, ANP32A +74 more	Copy number loss	See cases	GPathogenic