"Counsyl"[submitter] AND "FAH"[gene] - ClinVar

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Items: 52

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 372766	NM_000137.4(FAH):c.1A>G (p.Met1Val)	FAH (M1V)	Single nucleotide variant (missense variant +1 more)	Tyrosinemia type I +2 more	GPathogenic
Select item 371005	NM_000137.4(FAH):c.2T>A (p.Met1Lys)	FAH (M1K)	Single nucleotide variant (missense variant +1 more)	Tyrosinemia type I	GLikely pathogenic
Select item 371526	NM_000137.4(FAH):c.14del (p.Pro5fs)	FAH (P5fs)	Deletion (frameshift variant)	Tyrosinemia type I	GPathogenic/Likely pathogenic
Select item 402229	NM_000137.4(FAH):c.81+2T>A	FAH	Single nucleotide variant (splice donor variant)	Tyrosinemia type I	GLikely pathogenic
Select item 370962	NM_000137.4(FAH):c.81+2T>C	FAH	Single nucleotide variant (splice donor variant)	Tyrosinemia type I	GLikely pathogenic
Select item 551853	NM_000137.4(FAH):c.82-1G>A	FAH	Single nucleotide variant (splice acceptor variant)	Tyrosinemia type I	GPathogenic/Likely pathogenic
Select item 430378	NM_000137.4(FAH):c.107T>C (p.Ile36Thr)	FAH (I36T)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 550979	NM_000137.4(FAH):c.193-2A>G	FAH	Single nucleotide variant (splice acceptor variant)	Tyrosinemia type I	GLikely pathogenic
Select item 555186	NM_000137.4(FAH):c.298_300del (p.Thr100del)	FAH (T100del)	Deletion (inframe_deletion)	Tyrosinemia type I	GUncertain significance
Select item 370334	NM_000137.4(FAH):c.314+1G>A	FAH	Single nucleotide variant (splice donor variant)	not provided +1 more	GLikely pathogenic
Select item 554167	NM_000137.4(FAH):c.315-2A>G	FAH, LOC112272621	Single nucleotide variant (splice acceptor variant)	Tyrosinemia type I	GPathogenic/Likely pathogenic
Select item 557452	NM_000137.4(FAH):c.398A>T (p.His133Leu)	FAH (H133L)	Single nucleotide variant (missense variant)	Tyrosinemia type I	GConflicting classifications of pathogenicity
Select item 11866	NM_000137.4(FAH):c.401C>A (p.Ala134Asp)	FAH (A134D)	Single nucleotide variant (missense variant)	Tyrosinemia type I	GLikely pathogenic
Select item 370316	NM_000137.4(FAH):c.438del (p.Asn146fs)	FAH (N146fs)	Deletion (frameshift variant)	Tyrosinemia type I	GPathogenic/Likely pathogenic
Select item 370677	NM_000137.4(FAH):c.455G>A (p.Trp152Ter)	FAH (W152*)	Single nucleotide variant (nonsense)	Tyrosinemia type I	GPathogenic/Likely pathogenic
Select item 551054	NM_000137.4(FAH):c.456-2A>G	FAH	Single nucleotide variant (splice acceptor variant)	Tyrosinemia type I	GLikely pathogenic
Select item 92445	NM_000137.4(FAH):c.456G>A (p.Trp152Ter)	FAH (W152*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 370684	NM_000137.4(FAH):c.461_491del (p.His154fs)	FAH (H154fs)	Deletion (frameshift variant)	Tyrosinemia type I	GLikely pathogenic
Select item 371234	NM_000137.4(FAH):c.492del (p.Ser165fs)	FAH (S165fs)	Deletion (frameshift variant)	Tyrosinemia type I	GLikely pathogenic
Select item 558415	NM_000137.4(FAH):c.497T>G (p.Val166Gly)	FAH (V166G)	Single nucleotide variant (missense variant)	Tyrosinemia type I	GLikely pathogenic
Select item 188751	NM_000137.4(FAH):c.520C>T (p.Arg174Ter)	FAH (R174*)	Single nucleotide variant (nonsense)	Tyrosinemia type I +1 more	GPathogenic/Likely pathogenic
Select item 552185	NM_000137.4(FAH):c.553+2_553+3del	FAH	Microsatellite (splice donor variant)	Tyrosinemia type I	GLikely pathogenic
Select item 21056	NM_000137.4(FAH):c.607-6T>G	FAH	Single nucleotide variant (intron variant)	Tyrosinemia type I	GUncertain significance
Select item 188755	NM_000137.4(FAH):c.607-1G>A	FAH	Single nucleotide variant (splice acceptor variant)	Tyrosinemia type I	GPathogenic/Likely pathogenic
Select item 371201	NM_000137.4(FAH):c.615del (p.Phe205fs)	FAH (F205fs)	Deletion (frameshift variant)	Tyrosinemia type I	GPathogenic/Likely pathogenic
Select item 551686	NM_000137.4(FAH):c.696C>T (p.Asn232=)	FAH	Single nucleotide variant (synonymous variant)	Tyrosinemia type I	GPathogenic/Likely pathogenic
Select item 554643	NM_000137.4(FAH):c.700T>G (p.Trp234Gly)	FAH (W234G)	Single nucleotide variant (missense variant)	Tyrosinemia type I	GConflicting classifications of pathogenicity
Select item 550532	NM_000137.4(FAH):c.706+2T>G	FAH	Single nucleotide variant (splice donor variant)	Tyrosinemia type I	GLikely pathogenic
Select item 500962	NM_000137.4(FAH):c.707-7_707-5del	FAH	Microsatellite (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 558607	NM_000137.4(FAH):c.707-1G>A	FAH	Single nucleotide variant (splice acceptor variant)	Tyrosinemia type I	GPathogenic
Select item 370275	NM_000137.4(FAH):c.744del (p.Pro249fs)	FAH (P249fs)	Deletion (frameshift variant)	Tyrosinemia type I	GPathogenic/Likely pathogenic
Select item 371645	NM_000137.4(FAH):c.780_781del (p.Pro261fs)	FAH (P261fs)	Microsatellite (frameshift variant)	Tyrosinemia type I	GLikely pathogenic
Select item 553987	NM_000137.4(FAH):c.787G>A (p.Val263Met)	FAH (V263M)	Single nucleotide variant (missense variant)	Tyrosinemia type I	GUncertain significance
Select item 551130	NM_000137.4(FAH):c.835del (p.Gln279fs)	FAH (Q279fs)	Deletion (frameshift variant)	Tyrosinemia type I	GPathogenic
Select item 556983	NM_000137.4(FAH):c.854_855insTGGCCCCTGCC (p.Tyr286fs)	FAH (Y286fs)	Insertion (frameshift variant)	Tyrosinemia type I	GLikely pathogenic
Select item 555836	NM_000137.4(FAH):c.885dup (p.Asp296Ter)	FAH (D296*)	Duplication (nonsense)	Tyrosinemia type I	GLikely pathogenic
Select item 371348	NM_000137.4(FAH):c.960+1G>A	FAH	Single nucleotide variant (splice donor variant)	Tyrosinemia type I +1 more	GLikely pathogenic
Select item 382107	NM_000137.4(FAH):c.961-17G>A	FAH	Single nucleotide variant (intron variant)	Tyrosinemia type I +1 more	GBenign/Likely benign
Select item 557017	NM_000137.4(FAH):c.961-2A>C	FAH	Single nucleotide variant (splice acceptor variant)	Tyrosinemia type I	GLikely pathogenic
Select item 291075	NM_000137.4(FAH):c.963C>A (p.Tyr321Ter)	FAH (Y321*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 552826	NM_000137.4(FAH):c.974C>T (p.Thr325Met)	FAH (T325M)	Single nucleotide variant (missense variant)	Tyrosinemia type I	GPathogenic/Likely pathogenic
Select item 11869	NM_000137.4(FAH):c.1009G>A (p.Gly337Ser)	FAH (G337S)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 551024	NM_000137.4(FAH):c.1025C>T (p.Pro342Leu)	FAH (P342L)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 558592	NM_000137.4(FAH):c.1027G>A (p.Gly343Arg)	FAH (G343R)	Single nucleotide variant (missense variant)	Tyrosinemia type I	GPathogenic/Likely pathogenic
Select item 558219	NM_000137.4(FAH):c.1063-2A>G	FAH	Single nucleotide variant (splice acceptor variant)	Tyrosinemia type I	GPathogenic/Likely pathogenic
Select item 552656	NM_000137.4(FAH):c.1156G>C (p.Asp386His)	FAH (D386H)	Single nucleotide variant (missense variant)	Tyrosinemia type I	GUncertain significance
Select item 552576	NM_000137.4(FAH):c.1159G>A (p.Gly387Arg)	FAH (G387R)	Single nucleotide variant (missense variant)	Tyrosinemia type I	GUncertain significance
Select item 370230	NM_000137.4(FAH):c.1181-1G>A	FAH	Single nucleotide variant (splice acceptor variant)	Tyrosinemia type I	GLikely pathogenic
Select item 188907	NM_000137.4(FAH):c.1190del (p.Gln397fs)	FAH (Q397fs)	Deletion (frameshift variant)	Tyrosinemia type I	GLikely pathogenic
Select item 553045	NM_000137.4(FAH):c.1195G>C (p.Asp399His)	FAH (D399H)	Single nucleotide variant (missense variant)	Tyrosinemia type I	GUncertain significance
Select item 371623	NM_000137.4(FAH):c.1258T>C (p.Ter420Arg)	FAH	Single nucleotide variant (stop lost)	Tyrosinemia type I	GLikely pathogenic
Select item 370617	NM_000137.4(FAH):c.1258T>G (p.Ter420Gly)	FAH	Single nucleotide variant (stop lost)	Tyrosinemia type I	GLikely pathogenic

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Items: 52