ABHD2[gene] - ClinVar

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Items: 57

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154848	GRCh38/hg38 15q22.2-26.3(chr15:59828460-101920998)x3	LOC130057806, LOC130057807 +1763 more	Copy number gain	See cases	GPathogenic
Select item 154952	GRCh38/hg38 15q23-26.3(chr15:72154949-101920998)x3	ABHD17C, ABHD2 +1244 more	Copy number gain	See cases	GPathogenic
Select item 147691	GRCh38/hg38 15q25.2-26.3(chr15:82859676-101810992)x3	LOC130057831, LOC130057832 +664 more	Copy number gain	See cases	GPathogenic
Select item 146595	GRCh38/hg38 15q25.2-26.3(chr15:83711377-101843270)x3	ABHD2, ACAN +630 more	Copy number gain	See cases	GPathogenic
Select item 58580	GRCh38/hg38 15q25.2-26.3(chr15:84169153-101904929)x3	LOC130057938, LOC130057939 +611 more	Copy number gain	See cases	GPathogenic
Select item 153554	GRCh38/hg38 15q25.3-26.3(chr15:85397539-101888909)x3	ABHD2, ACAN +552 more	Copy number gain	See cases	GPathogenic
Select item 148189	GRCh38/hg38 15q25.3-26.3(chr15:85826665-101920998)x4	LOC121530602, LOC121530603 +517 more	Copy number gain	See cases	GPathogenic
Select item 146259	GRCh38/hg38 15q25.3-26.3(chr15:87904735-101843270)x3	LOC129390732, LOC129390733 +500 more	Copy number gain	See cases	GPathogenic
Select item 154660	GRCh38/hg38 15q26.1-26.3(chr15:88676575-98364743)x3	LOC126862240, LOC126862241 +311 more	Copy number gain	See cases	GPathogenic
Select item 549642	NC_000015.9:g.89595324_89652892del57569	ABHD2, CARMAL +3 more	Deletion	Primary amenorrhea	GLikely benign
Select item 2278547	NM_152924.5(ABHD2):c.22C>T (p.Pro8Ser)	ABHD2 (P8S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508679	NM_152924.5(ABHD2):c.37G>A (p.Val13Met)	ABHD2 (V13M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2467708	NM_152924.5(ABHD2):c.179C>G (p.Pro60Arg)	ABHD2 (P60R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2238250	NM_152924.5(ABHD2):c.607G>A (p.Val203Ile)	ABHD2 (V203I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130977	NM_152924.5(ABHD2):c.665C>G (p.Ala222Gly)	ABHD2 (A222G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130981	NM_152924.5(ABHD2):c.691G>A (p.Val231Ile)	ABHD2 (V146I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308724	NM_152924.5(ABHD2):c.878G>A (p.Arg293Gln)	ABHD2 (R293Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 743653	NM_152924.5(ABHD2):c.926+9G>T	ABHD2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 787965	NM_152924.5(ABHD2):c.936C>T (p.His312=)	ABHD2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3130984	NM_152924.5(ABHD2):c.979A>G (p.Met327Val)	ABHD2 (M242V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223170	NM_152924.5(ABHD2):c.983G>A (p.Arg328Gln)	ABHD2 (R328Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492954	NM_152924.5(ABHD2):c.1001A>G (p.Tyr334Cys)	ABHD2 (Y334C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130942	NM_152924.5(ABHD2):c.1052G>A (p.Ser351Asn)	ABHD2 (S351N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292628	NM_152924.5(ABHD2):c.1088G>A (p.Arg363Gln)	ABHD2 (R363Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 777877	NM_152924.5(ABHD2):c.1200C>T (p.Tyr400=)	ABHD2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2264707	NM_152924.5(ABHD2):c.1210A>G (p.Ile404Val)	ABHD2 (I404V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 710075	NM_152924.5(ABHD2):c.1260G>A (p.Val420=)	ABHD2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2601775	NM_152924.5(ABHD2):c.1267G>A (p.Asp423Asn)	ABHD2 (D338N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2621875	NM_152924.5(ABHD2):c.1270C>A (p.Leu424Met)	ABHD2 (L339M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2685529	GRCh37/hg19 15q26.1(chr15:89587464-90219354)x1	ABHD2, FANCI +8 more	Copy number loss	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 2498631	GRCh37/hg19 15q25.2-26.3(chr15:84228005-102264590)x3	IDH2, IGF1R +86 more	Copy number gain	not provided	GPathogenic
Select item 2498630	GRCh37/hg19 15q22.33-26.1(chr15:67358491-91644328)x3	BLM, BNC1 +209 more	Copy number gain	not provided	GPathogenic
Select item 2422891	NC_000015.9:g.(?_89379429)_(91565479_?)dup	LINC00928, PLIN1 +37 more	Duplication	D-2-hydroxyglutaric aciduria 2	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 1340806	GRCh37/hg19 15q26.1(chr15:89520451-93926491)x1	ABHD2, ANPEP +41 more	Copy number loss	not provided	GPathogenic
Select item 1328111	GRCh37/hg19 15q25.3-26.2(chr15:88465861-94411846)x1	ABHD2, ACAN +50 more	Copy number loss	not provided	GPathogenic
Select item 1024934	NC_000015.9:g.(?_32964879)_(91358519_?)dup	ALDH1A2, ALPK3 +472 more	Duplication	Familial colorectal cancer +1 more	GUncertain significance
Select item 983158	GRCh37/hg19 15q25.3-26.3(chr15:86962053-102531392)x1	ABHD2, ACAN +77 more	Copy number loss	See cases	GPathogenic
Select item 815744	GRCh37/hg19 15q26.1(chr15:89669751-89899031)x3	ABHD2, FANCI +2 more	Copy number gain	not provided	GUncertain significance
Select item 815743	GRCh37/hg19 15q25.3-26.3(chr15:87189245-102429112)x1	ABHD2, ACAN +76 more	Copy number loss	not provided	GPathogenic
Select item 625751	GRCh37/hg19 15q25.2-26.1(chr15:83883823-92165844)	ABHD2, ACAN +58 more	Copy number loss	not provided	GPathogenic
Select item 564229	GRCh37/hg19 15q26.1-26.3(chr15:89743929-102429112)x3	ABHD2, ADAMTS17 +66 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	AAGAB, ABHD17C +523 more	Duplication	not provided	GPathogenic
Select item 443650	GRCh37/hg19 15q25.3-26.3(chr15:86899001-98734014)x3	ABHD2, ACAN +55 more	Copy number gain	See cases	GLikely pathogenic
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)	AAGAB, ABHD17C +559 more	Copy number gain	See cases	GPathogenic
Select item 395560	GRCh37/hg19 15q25.3-26.3(chr15:86148286-102511616)x3	ABHD2, ACAN +79 more	Copy number gain	See cases	GPathogenic
Select item 395145	GRCh37/hg19 15q11.2-26.3(chr15:20733395-102511616)x4	CSK, CSNK1G1 +566 more	Copy number gain	See cases	GPathogenic
Select item 394887	GRCh37/hg19 15q15.1-26.3(chr15:41745084-102354798)x4	TRPM7, TSPAN3 +444 more	Copy number gain	See cases	GPathogenic
Select item 394871	GRCh37/hg19 15q25.2-26.3(chr15:85089467-102495441)x3	ABHD2, ACAN +87 more	Copy number gain	See cases	GPathogenic
Select item 393972	GRCh37/hg19 15q25.3-26.1(chr15:88295992-94215607)x1	FANCI, FES +50 more	Copy number loss	See cases	GPathogenic
Select item 369835	GRCh37/hg19 15q22.1-26.3(chr15:59297293-102480888)x3	SLC24A1, SLC28A1 +310 more	Copy number gain	not provided	GLikely pathogenic
Select item 253516	GRCh37/hg19 15q22.31-26.3(chr15:64637227-102509910)x3	AAGAB, ABHD17C +279 more	Copy number gain	See cases	GPathogenic

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Items: 57