"GeneDx"[submitter] AND "ABHD5"[gene] - ClinVar

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Items: 37

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1333046	NC_000003.12:g.43690694A>T	ANO10, ABHD5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 673914	NM_016006.4(ABHD5):c.-294T>A	ABHD5, ANO10	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 670436	NM_016006.4(ABHD5):c.-248C>T	ABHD5, ANO10	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 670437	NM_016006.4(ABHD5):c.-242G>A	ABHD5, ANO10	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1218949	NC_000003.12:g.43690823G>A	ABHD5, ANO10	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 369420	NM_016006.5(ABHD5):c.-114A>G	ABHD5, ANO10	Single nucleotide variant (5 prime UTR variant +2 more)	Triglyceride storage disease with ichthyosis +1 more	GBenign/Likely benign
Select item 345213	NM_016006.6(ABHD5):c.-19C>T	ABHD5, ANO10	Single nucleotide variant (5 prime UTR variant +2 more)	Triglyceride storage disease with ichthyosis +1 more	GBenign
Select item 345214	NM_016006.6(ABHD5):c.12G>A (p.Glu4=)	ABHD5, ANO10	Single nucleotide variant (synonymous variant +2 more)	Triglyceride storage disease with ichthyosis +1 more	GBenign
Select item 523800	NM_016006.6(ABHD5):c.16G>T (p.Glu6Ter)	ABHD5, ANO10 (E6*)	Single nucleotide variant (nonsense +2 more)	not provided	GPathogenic
Select item 345216	NM_016006.6(ABHD5):c.39C>T (p.Thr13=)	ABHD5, ANO10	Single nucleotide variant (synonymous variant +2 more)	Triglyceride storage disease with ichthyosis +1 more	GBenign/Likely benign
Select item 1251488	NM_016006.6(ABHD5):c.47+59G>A	ABHD5, ANO10	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1205281	NM_016006.6(ABHD5):c.48-203T>C	ABHD5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1270179	NM_016006.6(ABHD5):c.134-197C>A	ABHD5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 523801	NM_016006.6(ABHD5):c.340C>T (p.Arg114Ter)	ABHD5 (R114* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 445947	NM_016006.6(ABHD5):c.341G>T (p.Arg114Leu)	ABHD5 (R114L +1 more)	Single nucleotide variant (missense variant +1 more)	Triglyceride storage disease with ichthyosis +1 more	GBenign/Likely benign
Select item 1198597	NM_016006.6(ABHD5):c.506+95A>G	ABHD5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1276670	NM_016006.6(ABHD5):c.506+289TTA[2]	ABHD5	Microsatellite (intron variant)	not provided	GBenign
Select item 1233149	NM_016006.6(ABHD5):c.506+329C>T	ABHD5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 524159	NM_016006.6(ABHD5):c.588_591del (p.Trp197fs)	ABHD5 (W197fs +1 more)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 620267	NM_016006.6(ABHD5):c.591G>A (p.Trp197Ter)	ABHD5 (W197* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided	GLikely pathogenic
Select item 392179	NM_016006.6(ABHD5):c.715A>G (p.Met239Val)	ABHD5 (M239V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2574453	NM_016006.6(ABHD5):c.752A>C (p.His251Pro)	ABHD5 (H210P +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1281882	NM_016006.6(ABHD5):c.773+28TG[20]	ABHD5	Microsatellite (intron variant)	not provided	GBenign
Select item 1274988	NM_016006.6(ABHD5):c.773+28TG[18]	ABHD5	Microsatellite (intron variant)	not provided	GBenign
Select item 1248826	NM_016006.6(ABHD5):c.773+28TG[19]	ABHD5	Microsatellite (intron variant)	not provided	GBenign
Select item 1200323	NM_016006.6(ABHD5):c.773+28TG[21]	ABHD5	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1199929	NM_016006.6(ABHD5):c.773+28TG[22]	ABHD5	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1272230	NM_016006.6(ABHD5):c.773+28TG[15]	ABHD5	Microsatellite (intron variant)	not provided	GBenign
Select item 1239128	NM_016006.6(ABHD5):c.773+61_773+62insGT	ABHD5	Insertion (intron variant)	not provided	GBenign
Select item 1295675	NM_016006.6(ABHD5):c.773+95TATT[4]	ABHD5	Microsatellite (intron variant)	not provided	GBenign
Select item 673915	NM_016006.6(ABHD5):c.774-296A>G	ABHD5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1697083	NM_016006.6(ABHD5):c.960+5G>A	ABHD5	Single nucleotide variant (intron variant)	not provided	GLikely pathogenic
Select item 1254771	NM_016006.6(ABHD5):c.960+189G>A	ABHD5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1693338	NM_016006.6(ABHD5):c.1006G>T (p.Glu336Ter)	ABHD5 (E295* +2 more)	Single nucleotide variant (nonsense +2 more)	Triglyceride storage disease with ichthyosis +1 more	GPathogenic/Likely pathogenic
Select item 345229	NM_016006.6(ABHD5):c.*281C>A	ABHD5	Single nucleotide variant (3 prime UTR variant +2 more)	Triglyceride storage disease with ichthyosis +1 more	GBenign
Select item 253640	GRCh37/hg19 3p22.1-21.31(chr3:41104508-44636698)x1	HHATL, ZKSCAN7 +29 more	Copy number loss	See cases	GPathogenic
Select item 253356	GRCh37/hg19 3p22.2-21.31(chr3:37028313-49929220)x3	ABHD5, ACAA1 +177 more	Copy number gain	See cases	GLikely pathogenic

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Items: 37