"Fulgent Genetics, Fulgent Genetics"[submitter] AND "HGD"[gene] - ClinVar

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Items: 36

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1090702	NM_000187.4(HGD):c.1335T>C (p.Asn445=)	HGD	Single nucleotide variant (synonymous variant)	Alkaptonuria	GLikely benign
Select item 902518	NM_000187.4(HGD):c.1179T>C (p.Asp393=)	HGD	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 729972	NM_000187.4(HGD):c.1128C>G (p.Asp376Glu)	HGD (D376E)	Single nucleotide variant (missense variant)	Alkaptonuria	GLikely benign
Select item 550232	NM_000187.4(HGD):c.1120G>C (p.Asp374His)	HGD (D374H)	Single nucleotide variant (missense variant)	Alkaptonuria	GConflicting classifications of pathogenicity
Select item 65573	NM_000187.4(HGD):c.1111dup (p.His371fs)	HGD (H371fs)	Duplication (frameshift variant)	Alkaptonuria	GPathogenic
Select item 3173	NM_000187.4(HGD):c.1102A>G (p.Met368Val)	HGD (M368V)	Single nucleotide variant (missense variant)	See cases +2 more	GPathogenic
Select item 640206	NM_000187.4(HGD):c.1078G>C (p.Gly360Arg)	HGD (G360R)	Single nucleotide variant (missense variant)	Alkaptonuria	GPathogenic
Select item 342739	NM_000187.4(HGD):c.1027A>C (p.Met343Leu)	HGD (M343L)	Single nucleotide variant (missense variant)	Alkaptonuria	GLikely benign
Select item 371197	NM_000187.4(HGD):c.1017_1019delinsTA (p.Met339fs)	HGD (M339fs)	Indel (frameshift variant)	HGD-related disorder +1 more	GPathogenic
Select item 342741	NM_000187.4(HGD):c.920G>A (p.Arg307His)	HGD (R307H)	Single nucleotide variant (missense variant)	Alkaptonuria	GUncertain significance
Select item 766366	NM_000187.4(HGD):c.915T>C (p.Ser305=)	HGD	Single nucleotide variant (synonymous variant)	Alkaptonuria	GLikely benign
Select item 3175	NM_000187.4(HGD):c.808G>A (p.Gly270Arg)	HGD (G270R)	Single nucleotide variant (missense variant)	Alkaptonuria	GPathogenic/Likely pathogenic
Select item 1134075	NM_000187.4(HGD):c.807C>T (p.His269=)	HGD	Single nucleotide variant (synonymous variant)	Alkaptonuria	GLikely benign
Select item 1097657	NM_000187.4(HGD):c.786G>A (p.Pro262=)	HGD	Single nucleotide variant (synonymous variant)	Alkaptonuria	GLikely benign
Select item 784694	NM_000187.4(HGD):c.711C>A (p.Arg237=)	HGD	Single nucleotide variant (synonymous variant)	Alkaptonuria	GBenign/Likely benign
Select item 3165	NM_000187.4(HGD):c.688C>T (p.Pro230Ser)	HGD (P230S)	Single nucleotide variant (missense variant)	Alkaptonuria	GPathogenic
Select item 189173	NM_000187.4(HGD):c.674G>A (p.Arg225His)	HGD (R225H)	Single nucleotide variant (missense variant)	Alkaptonuria	GPathogenic/Likely pathogenic
Select item 342745	NM_000187.4(HGD):c.567C>G (p.Ser189Arg)	HGD (S189R)	Single nucleotide variant (missense variant)	Alkaptonuria	GUncertain significance
Select item 3168	NM_000187.4(HGD):c.481G>A (p.Gly161Arg)	HGD (G161R)	Single nucleotide variant (missense variant)	Alkaptonuria +1 more	GPathogenic
Select item 749486	NM_000187.4(HGD):c.477G>A (p.Gln159=)	HGD	Single nucleotide variant (synonymous variant)	Alkaptonuria	GLikely benign
Select item 553516	NM_000187.4(HGD):c.473C>T (p.Pro158Leu)	HGD (P158L)	Single nucleotide variant (missense variant)	Alkaptonuria	GConflicting classifications of pathogenicity
Select item 3169	NM_000187.4(HGD):c.457dup (p.Asp153fs)	HGD (D153fs)	Duplication (frameshift variant)	Alkaptonuria	GPathogenic
Select item 188865	NM_000187.4(HGD):c.365C>T (p.Ala122Val)	HGD (A122V)	Single nucleotide variant (missense variant)	Alkaptonuria	GPathogenic/Likely pathogenic
Select item 65578	NM_000187.4(HGD):c.360T>G (p.Cys120Trp)	HGD (C120W)	Single nucleotide variant (missense variant)	Alkaptonuria	GPathogenic
Select item 1387389	NM_000187.4(HGD):c.359G>T (p.Cys120Phe)	HGD (C120F)	Single nucleotide variant (missense variant)	Alkaptonuria	GPathogenic
Select item 1529466	NM_000187.4(HGD):c.343-5C>T	HGD	Single nucleotide variant (intron variant)	Alkaptonuria	GLikely benign
Select item 1661444	NM_000187.4(HGD):c.343-6T>A	HGD	Single nucleotide variant (intron variant)	Alkaptonuria	GLikely benign
Select item 342750	NM_000187.4(HGD):c.343-11G>A	HGD	Single nucleotide variant (intron variant)	Alkaptonuria +1 more	GBenign
Select item 189127	NM_000187.4(HGD):c.342+1G>T	HGD	Single nucleotide variant (splice donor variant)	Alkaptonuria	GPathogenic/Likely pathogenic
Select item 855743	NM_000187.4(HGD):c.291G>A (p.Trp97Ter)	HGD (W97*)	Single nucleotide variant (nonsense)	Alkaptonuria	GPathogenic/Likely pathogenic
Select item 1165635	NM_000187.4(HGD):c.283-5del	HGD	Deletion (intron variant)	Alkaptonuria	GBenign/Likely benign
Select item 710691	NM_000187.4(HGD):c.221A>T (p.Glu74Val)	HGD (E74V)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1071746	NM_000187.4(HGD):c.125A>C (p.Glu42Ala)	HGD (E42A)	Single nucleotide variant (missense variant)	Alkaptonuria	GPathogenic/Likely pathogenic
Select item 3170	NM_000187.4(HGD):c.16-1G>A	HGD	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GPathogenic
Select item 555702	NM_000187.4(HGD):c.8A>C (p.Glu3Ala)	HGD (E3A)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1626835	NM_000187.4(HGD):c.6T>A (p.Ala2=)	HGD	Single nucleotide variant (synonymous variant)	Alkaptonuria	GLikely benign

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Items: 36