C3150617[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[su - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 129279	NM_000207.3(INS):c.188-10G>A	INS, INS-IGF2	Single nucleotide variant (intron variant)	Type 1 diabetes mellitus 2 +8 more	GBenign/Likely benign
Select item 36400	NM_000207.3(INS):c.188-16C>T	INS, INS-IGF2	Single nucleotide variant (intron variant)	not specified +7 more	GBenign/Likely benign
Select item 255532	NM_000207.3(INS):c.187+11T>C	INS, INS-IGF2 +1 more	Single nucleotide variant (intron variant)	not specified +8 more	GBenign/Likely benign
Select item 730224	NM_000207.3(INS):c.67G>A (p.Ala23Thr)	INS, INS-IGF2 (A23T)	Single nucleotide variant (missense variant +1 more)	not specified +8 more	GConflicting classifications of pathogenicity
Select item 304057	NM_000207.3(INS):c.36G>A (p.Ala12=)	INS-IGF2, TH +1 more	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive DOPA responsive dystonia +7 more	GBenign/Likely benign
Select item 304058	NM_000207.3(INS):c.25C>T (p.Pro9Ser)	INS, INS-IGF2 (P9S)	Single nucleotide variant (missense variant +1 more)	INS-related disorder +6 more	GUncertain significance
Select item 1455986	NM_000207.3(INS):c.1A>G (p.Met1Val)	INS, INS-IGF2 (M1V)	Single nucleotide variant (missense variant +2 more)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 431443	NM_000207.3(INS):c.-152C>G	INS	Single nucleotide variant	Diabetes mellitus, permanent neonatal 4 +5 more	GConflicting classifications of pathogenicity
Select item 1317682	NM_000207.3(INS):c.-153C>G	INS	Single nucleotide variant	not specified +5 more	GConflicting classifications of pathogenicity