C3151445[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[su - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1516884	NM_001099274.3(TINF2):c.1285C>A (p.Leu429Ile)	TINF2 (L394I +1 more)	Single nucleotide variant (missense variant +1 more)	Revesz syndrome +3 more	GUncertain significance
Select item 238288	NM_001099274.3(TINF2):c.1236C>T (p.Asn412=)	TINF2	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita, autosomal dominant 3 +5 more	GBenign/Likely benign
Select item 841738	NM_001099274.3(TINF2):c.1139C>T (p.Pro380Leu)	TINF2 (P345L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GUncertain significance
Select item 655611	NM_001099274.3(TINF2):c.1030C>T (p.Pro344Ser)	TINF2 (P309S +1 more)	Single nucleotide variant (missense variant)	Dyskeratosis congenita +3 more	GUncertain significance
Select item 280299	NM_001099274.3(TINF2):c.936C>A (p.Tyr312Ter)	TINF2 (Y312* +1 more)	Single nucleotide variant (nonsense)	Revesz syndrome +4 more	GUncertain significance
Select item 5625	NM_001099274.3(TINF2):c.845G>A (p.Arg282His)	TINF2 (R282H +1 more)	Single nucleotide variant (missense variant)	Dyskeratosis congenita, autosomal dominant 3 +4 more	GPathogenic
Select item 1385538	NM_001099274.3(TINF2):c.802G>C (p.Val268Leu)	TINF2 (V268L +1 more)	Single nucleotide variant (missense variant)	Dyskeratosis congenita +4 more	GUncertain significance
Select item 38916	NM_001099274.3(TINF2):c.734C>A (p.Ser245Tyr)	TINF2 (S245Y +1 more)	Single nucleotide variant (missense variant)	Revesz syndrome +4 more	GBenign/Likely benign
Select item 572348	NM_001099274.3(TINF2):c.403C>T (p.Leu135Phe)	TINF2 (L135F +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 312955	NM_001099274.3(TINF2):c.359A>G (p.Gln120Arg)	TINF2 (Q120R +1 more)	Single nucleotide variant (missense variant)	Revesz syndrome +3 more	GBenign/Likely benign