ABHD17C[gene] - ClinVar

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Items: 37

	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 154952	GRCh38/hg38 15q23-26.3(chr15:72154949-101920998)x3	LOC116268473, LOC116268474 +1244 more	Copy number gain	See cases	GPathogenic
Select item 2554788	NM_021214.2(ABHD17C):c.80G>C (p.Ser27Thr)	ABHD17C, LOC130057737 (S27T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130838	NM_021214.2(ABHD17C):c.139C>G (p.Pro47Ala)	ABHD17C (P47A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130845	NM_021214.2(ABHD17C):c.160G>A (p.Ala54Thr)	ABHD17C (A54T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357720	NM_021214.2(ABHD17C):c.175C>T (p.Pro59Ser)	ABHD17C, LOC130057738 (P59S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393754	NM_021214.2(ABHD17C):c.179C>T (p.Ala60Val)	ABHD17C, LOC130057738 (A60V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255114	NM_021214.2(ABHD17C):c.185C>G (p.Ala62Gly)	ABHD17C, LOC130057738 (A62G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130855	NM_021214.2(ABHD17C):c.344C>T (p.Ala115Val)	ABHD17C (A115V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254809	NM_021214.2(ABHD17C):c.356G>C (p.Arg119Pro)	ABHD17C (R119P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238249	NM_021214.2(ABHD17C):c.527G>A (p.Gly176Asp)	ABHD17C (G176D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255679	NM_021214.2(ABHD17C):c.578C>A (p.Ala193Glu)	ABHD17C (A193E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344183	NM_021214.2(ABHD17C):c.598G>A (p.Val200Met)	ABHD17C, LOC126862193 (V200M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130879	NM_021214.2(ABHD17C):c.878G>A (p.Arg293Gln)	ABHD17C (R293Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2684765	GRCh37/hg19 15q25.1(chr15:80208164-81551831)x3	ABHD17C, ARNT2 +10 more	Copy number gain	not provided	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 2425995	NC_000015.9:g.(?_78857986)_(81282132_?)dup	ABHD17C, ADAMTS7 +19 more	Duplication	not provided	GUncertain significance
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 1807897	GRCh37/hg19 15q25.1-25.2(chr15:79996626-82097796)x1	ABHD17C, ARNT2 +13 more	Copy number loss	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 831029	NC_000015.9:g.(?_80403807)_(81274523_?)dup	MESD, ABHD17C +4 more	Duplication	Tyrosinemia type I	GUncertain significance
Select item 688687	GRCh37/hg19 15q25.1-25.2(chr15:80728654-84107646)x1	ABHD17C, AP3B2 +22 more	Copy number loss	not provided	GPathogenic
Select item 687252	GRCh37/hg19 15q25.1(chr15:80819617-81013912)x3	ABHD17C, ARNT2	Copy number gain	not provided	GUncertain significance
Select item 564224	GRCh37/hg19 15q25.1-25.2(chr15:80955355-82622366)x4	MESD, STARD5 +9 more	Copy number gain	not provided	GUncertain significance
Select item 564223	GRCh37/hg19 15q25.1-25.3(chr15:79023343-87158823)x1,2	ABHD17C, ADAMTS7 +49 more	Copy number gain	not provided	GPathogenic
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 395044	GRCh37/hg19 15q25.1-25.2(chr15:80703867-83955596)x1	ABHD17C, AP3B2 +22 more	Copy number loss	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: 37