C2673535[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[su - ClinVar

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Items: 34

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 255532	NM_000207.3(INS):c.187+11T>C	INS, INS-IGF2 +1 more	Single nucleotide variant (intron variant)	Maturity-onset diabetes of the young type 10 +8 more	GBenign/Likely benign
Select item 304057	NM_000207.3(INS):c.36G>A (p.Ala12=)	INS, INS-IGF2 +1 more	Single nucleotide variant (synonymous variant +1 more)	Maturity-onset diabetes of the young type 10 +7 more	GBenign/Likely benign
Select item 879134	NM_000360.4(TH):c.1423G>A (p.Val475Met)	TH (V475M +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive DOPA responsive dystonia	GUncertain significance
Select item 989999	NM_000360.4(TH):c.1380C>A (p.Asp460Glu)	TH (D460E +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive DOPA responsive dystonia	GUncertain significance
Select item 1304569	NM_000360.4(TH):c.1318G>T (p.Ala440Ser)	TH (A440S +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 857717	NM_000360.4(TH):c.1297G>A (p.Val433Met)	TH (V464M +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive DOPA responsive dystonia +1 more	GUncertain significance
Select item 304069	NM_000360.4(TH):c.1278G>A (p.Thr426=)	INS, TH	Single nucleotide variant (synonymous variant)	Autosomal recessive DOPA responsive dystonia +4 more	GBenign/Likely benign
Select item 990001	NM_000360.4(TH):c.1250C>T (p.Ala417Val)	TH (A417V +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive DOPA responsive dystonia	GUncertain significance
Select item 573670	NM_000360.4(TH):c.1228C>T (p.Arg410Trp)	TH (R441W +2 more)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 1581554	NM_000360.4(TH):c.1200+11C>T	TH	Single nucleotide variant (intron variant)	Autosomal recessive DOPA responsive dystonia	GLikely benign
Select item 304073	NM_000360.4(TH):c.1035G>T (p.Ala345=)	TH	Single nucleotide variant (synonymous variant)	Autosomal recessive DOPA responsive dystonia +2 more	GBenign
Select item 1358148	NM_000360.4(TH):c.1024C>T (p.Arg342Cys)	TH (R342C +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive DOPA responsive dystonia	GUncertain significance
Select item 990004	NM_000360.4(TH):c.978-6G>A	TH	Single nucleotide variant (intron variant)	Autosomal recessive DOPA responsive dystonia	GLikely benign
Select item 857525	NM_000360.4(TH):c.794G>A (p.Arg265Gln)	TH (R296Q +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive DOPA responsive dystonia	GUncertain significance
Select item 550188	NM_000360.4(TH):c.679G>A (p.Glu227Lys)	TH (E227K +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 374731	NM_000360.4(TH):c.653C>T (p.Pro218Leu)	TH (P249L +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive DOPA responsive dystonia +2 more	GUncertain significance
Select item 948892	NM_000360.4(TH):c.646G>A (p.Gly216Ser)	TH (G243S +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 12325	NM_000360.4(TH):c.614T>C (p.Leu205Pro)	TH (L236P +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive DOPA responsive dystonia +1 more	GPathogenic/Likely pathogenic
Select item 12327	NM_000360.4(TH):c.605G>A (p.Arg202His)	TH (R233H +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 581934	NM_000360.4(TH):c.585G>A (p.Ser195=)	TH	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 497884	NM_000360.4(TH):c.550G>A (p.Asp184Asn)	TH (D215N +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive DOPA responsive dystonia +2 more	GUncertain significance
Select item 1473647	NM_000360.4(TH):c.541A>T (p.Thr181Ser)	TH (T212S +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive DOPA responsive dystonia	GUncertain significance
Select item 526208	NM_000360.4(TH):c.452T>C (p.Val151Ala)	TH (V182A +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 304078	NM_000360.4(TH):c.406G>A (p.Val136Met)	TH (V136M +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive DOPA responsive dystonia +1 more	GUncertain significance
Select item 304079	NM_000360.4(TH):c.398G>A (p.Arg133His)	TH (R164H +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 643112	NM_000360.4(TH):c.391T>G (p.Phe131Val)	TH (F158V +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 449110	NM_000360.4(TH):c.364C>T (p.Arg122Ter)	TH (R153* +2 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 990009	NM_000360.4(TH):c.344C>T (p.Thr115Ile)	TH (T115I +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 555288	NM_000360.4(TH):c.312+1G>A	TH	Single nucleotide variant (splice donor variant)	Autosomal recessive DOPA responsive dystonia	GLikely pathogenic
Select item 1210008	NM_000360.4(TH):c.104T>C (p.Ile35Thr)	TH (I35T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 550015	NM_000360.4(TH):c.91-892C>T	TH (P37L +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive DOPA responsive dystonia +1 more	GUncertain significance
Select item 444242	NM_000360.4(TH):c.67G>A (p.Ala23Thr)	TH (A23T)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 526214	NM_000360.4(TH):c.13G>A (p.Asp5Asn)	TH (D5N)	Single nucleotide variant (missense variant)	Autosomal recessive DOPA responsive dystonia	GUncertain significance
Select item 304088	NM_000360.4(TH):c.-18G>A	TH	Single nucleotide variant (5 prime UTR variant)	Autosomal recessive DOPA responsive dystonia	GUncertain significance

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Items: 34