C1619700[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[su - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 779107	NM_003638.3(ITGA8):c.2977A>G (p.Ile993Val)	ITGA8 (I978V +1 more)	Single nucleotide variant (missense variant)	Renal hypodysplasia/aplasia 1 +1 more	GBenign/Likely benign
Select item 781192	NM_003638.3(ITGA8):c.2803G>A (p.Ala935Thr)	ITGA8 (A935T +1 more)	Single nucleotide variant (missense variant)	Renal hypodysplasia/aplasia 1 +1 more	GBenign/Likely benign
Select item 1601627	NM_003638.3(ITGA8):c.1400-11G>A	ITGA8	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 132713	NM_020975.6(RET):c.1264-5C>T	RET	Single nucleotide variant (intron variant)	Renal hypodysplasia/aplasia 1 +10 more	GBenign/Likely benign
Select item 299893	NM_020975.6(RET):c.1523-7C>T	RET	Single nucleotide variant (intron variant)	Hirschsprung disease, susceptibility to, 1 +7 more	GBenign/Likely benign
Select item 299894	NM_020975.6(RET):c.1618A>G (p.Arg540Gly)	RET (R540G +12 more)	Single nucleotide variant (missense variant)	Hirschsprung disease, susceptibility to, 1 +9 more	GConflicting classifications of pathogenicity
Select item 477327	NM_020975.6(RET):c.1798C>T (p.Arg600Trp)	RET (R600W +12 more)	Single nucleotide variant (missense variant)	Pheochromocytoma +8 more	GConflicting classifications of pathogenicity
Select item 580338	NM_020975.6(RET):c.2129A>G (p.Lys710Arg)	RET (K710R +17 more)	Single nucleotide variant (missense variant)	Renal hypodysplasia/aplasia 1 +9 more	GConflicting classifications of pathogenicity
Select item 37102	NM_020975.6(RET):c.2410G>A (p.Val804Met)	RET (V804M +17 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +12 more	GPathogenic/Likely pathogenic
Select item 299901	NM_020975.6(RET):c.2876G>A (p.Arg959Gln)	RET (R959Q +17 more)	Single nucleotide variant (missense variant)	Multiple endocrine neoplasia, type 2 +9 more	GUncertain significance
Select item 41843	NM_020975.6(RET):c.2982A>C (p.Lys994Asn)	RET (K994N +17 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +9 more	GConflicting classifications of pathogenicity