2338[HGNC] - ClinVar

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Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 153193	GRCh38/hg38 15q23-25.1(chr15:70025300-78705993)x1	ACSBG1, ADPGK +487 more	Copy number loss	See cases	GPathogenic
Select item 154952	GRCh38/hg38 15q23-26.3(chr15:72154949-101920998)x3	LOC116268473, LOC116268474 +1244 more	Copy number gain	See cases	GPathogenic
Select item 147979	GRCh38/hg38 15q24.2-25.1(chr15:76006154-79982417)x1	LOC130057730, LOC132090332 +175 more	Copy number loss	See cases	GPathogenic
Select item 57247	GRCh38/hg38 15q24.3-25.1(chr15:77640317-78459174)x3	ACSBG1, CIB2 +46 more	Copy number gain	See cases	GUncertain significance
Select item 150994	GRCh38/hg38 15q25.1(chr15:78198708-78912913)x3	ACSBG1, ADAMTS7 +35 more	Copy number gain	See cases	GLikely benign
Select item 3269370	NM_004378.3(CRABP1):c.86T>C (p.Leu29Pro)	CRABP1 (L29P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255842	NM_004378.3(CRABP1):c.181A>C (p.Thr61Pro)	CRABP1 (T61P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597363	NM_004378.3(CRABP1):c.245G>T (p.Cys82Phe)	CRABP1 (C82F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370493	NM_004378.3(CRABP1):c.284A>T (p.His95Leu)	CRABP1 (H95L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077073	NM_004378.3(CRABP1):c.290C>G (p.Thr97Arg)	CRABP1 (T97R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077074	NM_004378.3(CRABP1):c.376G>A (p.Asp126Asn)	CRABP1 (D126N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077075	NM_004378.3(CRABP1):c.409G>C (p.Glu137Gln)	CRABP1 (E137Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2580298	GRCh37/hg19 15q24.1-26.3(chr15:75165490-102520892)x3	ABHD17C, ABHD2 +174 more	Copy number gain	See cases	GPathogenic
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 1809424	GRCh37/hg19 15q24.3-26.3(chr15:77512817-102035027)x3	ABHD17C, ABHD2 +139 more	Copy number gain	not provided	GPathogenic
Select item 1809140	GRCh37/hg19 15q25.1(chr15:78488482-78757311)x3	ACSBG1, CRABP1 +3 more	Copy number gain	not provided	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 564222	GRCh37/hg19 15q24.3-25.1(chr15:78193071-78767884)x3	WDR61, SH2D7 +7 more	Copy number gain	not provided	GUncertain significance
Select item 564221	GRCh37/hg19 15q24.3-26.3(chr15:77479244-102429112)x3	ABHD17C, ABHD2 +143 more	Copy number gain	not provided	GPathogenic
Select item 564214	GRCh37/hg19 15q23-26.3(chr15:71329220-102270758)x3	ABHD17C, ABHD2 +215 more	Copy number gain	not provided	GPathogenic
Select item 560049	Single allele	PDIA3, PEAK1 +521 more	Duplication	not provided	GPathogenic
Select item 443269	GRCh37/hg19 15q24.2-26.3(chr15:76061144-102429112)x3	ABHD17C, ABHD2 +153 more	Copy number gain	See cases	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

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Items: 29