"Ambry Genetics"[submitter] AND "ASPH"[gene] - ClinVar

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Items: 38

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2552594	NM_004318.4(ASPH):c.2258G>T (p.Arg753Leu)	ASPH (R620L +42 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2358987	NM_004318.4(ASPH):c.2258G>A (p.Arg753His)	ASPH (R591H +42 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3130439	NM_004318.4(ASPH):c.2146G>A (p.Val716Met)	ASPH (G652D +46 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2215874	NM_004318.4(ASPH):c.2105T>C (p.Ile702Thr)	ASPH (I498T +40 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2621344	NM_004318.4(ASPH):c.2084T>A (p.Ile695Asn)	ASPH (I614N +40 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3130438	NM_004318.4(ASPH):c.2071C>A (p.Leu691Met)	ASPH (L473M +40 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2271010	NM_004318.4(ASPH):c.2005A>G (p.Ile669Val)	ASPH (I600V +40 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3130437	NM_004318.4(ASPH):c.1802G>A (p.Gly601Asp)	ASPH (G439D +40 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2391650	NM_004318.4(ASPH):c.1793G>A (p.Arg598Gln)	ASPH (R439Q +40 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2236847	NM_004318.4(ASPH):c.1721C>T (p.Pro574Leu)	ASPH (P531L +40 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2230488	NM_004318.4(ASPH):c.1612G>A (p.Val538Ile)	ASPH (V457I +39 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2198759	NM_004318.4(ASPH):c.1517A>T (p.Glu506Val)	ASPH (E373V +39 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2227901	NM_004318.4(ASPH):c.1514C>A (p.Ala505Asp)	ASPH (A301D +39 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2549925	NM_004318.4(ASPH):c.1388G>A (p.Gly463Glu)	ASPH (G245E +39 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1449390	NM_004318.4(ASPH):c.1384G>A (p.Val462Met)	ASPH (V462M +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2613681	NM_004318.4(ASPH):c.1309A>G (p.Arg437Gly)	ASPH (R233G +39 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2601167	NM_004318.4(ASPH):c.1277G>A (p.Arg426His)	ASPH (R222H +39 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3130436	NM_004318.4(ASPH):c.1127G>A (p.Arg376Gln)	ASPH (R243Q +39 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3130435	NM_004318.4(ASPH):c.1049A>G (p.Lys350Arg)	ASPH (K146R +39 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2398596	NM_004318.4(ASPH):c.1011T>G (p.Phe337Leu)	ASPH (F119L +39 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2555493	NM_004318.4(ASPH):c.935A>G (p.Glu312Gly)	ASPH (E210G +36 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2273399	NM_004318.4(ASPH):c.932C>T (p.Pro311Leu)	ASPH (P254L +31 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2364210	NM_004318.4(ASPH):c.924A>T (p.Glu308Asp)	ASPH (E217D +31 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2463008	NM_004318.4(ASPH):c.896G>A (p.Ser299Asn)	ASPH (S208N +31 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 718344	NM_004318.4(ASPH):c.844C>T (p.Pro282Ser)	ASPH (P253S +7 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2304136	NM_004318.4(ASPH):c.749A>G (p.His250Arg)	ASPH (H163R +17 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2622901	NM_004318.4(ASPH):c.725T>A (p.Val242Glu)	ASPH (V151E +17 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2279905	NM_004318.4(ASPH):c.573T>A (p.Asp191Glu)	ASPH (D166E +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2530344	NM_004318.4(ASPH):c.572A>T (p.Asp191Val)	ASPH (D206V +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2455959	NM_004318.4(ASPH):c.566C>T (p.Ala189Val)	ASPH (A160V +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 3130444	NM_004318.4(ASPH):c.563T>C (p.Met188Thr)	ASPH (M159T +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2315649	NM_004318.4(ASPH):c.514G>C (p.Glu172Gln)	ASPH (E147Q +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3130443	NM_004318.4(ASPH):c.359C>T (p.Pro120Leu)	ASPH (P120L +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3130441	NM_004318.4(ASPH):c.331G>C (p.Glu111Gln)	ASPH (E82Q +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3130440	NM_004318.4(ASPH):c.292T>A (p.Phe98Ile)	ASPH (F84I +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1683483	NM_004318.4(ASPH):c.248T>C (p.Val83Ala)	ASPH (V54A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2474005	NM_004318.4(ASPH):c.200G>C (p.Trp67Ser)	ASPH (W38S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2539313	NM_004318.4(ASPH):c.148T>C (p.Ser50Pro)	ASPH (S21P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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Items: 38