"Ambry Genetics"[submitter] AND "ABHD5"[gene] - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1425120	NM_016006.6(ABHD5):c.14A>C (p.Glu5Ala)	ABHD5, ANO10 (E5A)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 345215	NM_016006.6(ABHD5):c.26A>G (p.Asp9Gly)	ANO10, ABHD5 (D9G)	Single nucleotide variant (missense variant +2 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 809474	NM_016006.6(ABHD5):c.34G>A (p.Asp12Asn)	ANO10, ABHD5 (D12N)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 2464461	NM_016006.6(ABHD5):c.89C>T (p.Thr30Met)	ABHD5 (T30M)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 1905927	NM_016006.6(ABHD5):c.145A>G (p.Thr49Ala)	ABHD5 (T8A +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3323125	NM_016006.6(ABHD5):c.181A>G (p.Asn61Asp)	ABHD5 (N20D +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2203963	NM_016006.6(ABHD5):c.299C>G (p.Thr100Ser)	ABHD5 (T100S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2218462	NM_016006.6(ABHD5):c.352C>A (p.Pro118Thr)	ABHD5 (P118T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2403735	NM_016006.6(ABHD5):c.362A>T (p.Asp121Val)	ABHD5 (D80V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1372082	NM_016006.6(ABHD5):c.399A>C (p.Glu133Asp)	ABHD5 (E92D +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2299362	NM_016006.6(ABHD5):c.412T>C (p.Trp138Arg)	ABHD5 (W138R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1902854	NM_016006.6(ABHD5):c.512A>G (p.Asn171Ser)	ABHD5 (N171S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 345220	NM_016006.6(ABHD5):c.640C>A (p.Leu214Ile)	ABHD5 (L214I +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3131086	NM_016006.6(ABHD5):c.842T>C (p.Ile281Thr)	ABHD5 (I240T +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3131090	NM_016006.6(ABHD5):c.851T>A (p.Met284Lys)	ABHD5 (M243K +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3131093	NM_016006.6(ABHD5):c.890G>A (p.Arg297Gln)	ABHD5 (R256Q +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2615492	NM_016006.6(ABHD5):c.929C>T (p.Ser310Phe)	ABHD5 (S269F +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2127182	NM_016006.6(ABHD5):c.959T>C (p.Ile320Thr)	ABHD5 (I279T +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 345225	NM_016006.6(ABHD5):c.1025A>G (p.Lys342Arg)	ABHD5 (K342R +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +2 more	GUncertain significance