C3152204[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[su - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1217664	NM_001354604.2(MITF):c.622G>A (p.Glu208Lys)	MITF (E101K +6 more)	Single nucleotide variant (missense variant)	Tietz syndrome +4 more	GUncertain significance
Select item 1189737	NM_001354604.2(MITF):c.726G>C (p.Leu242Phe)	MITF (L135F +6 more)	Single nucleotide variant (missense variant)	Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness +4 more	GUncertain significance
Select item 228853	NM_001354604.2(MITF):c.881-9C>G	MITF	Single nucleotide variant (intron variant)	not specified +6 more	GUncertain significance
Select item 800541	NM_001354604.2(MITF):c.1031C>T (p.Pro344Leu)	MITF (P286L +9 more)	Single nucleotide variant (missense variant)	Melanoma, cutaneous malignant, susceptibility to, 8 +5 more	GUncertain significance
Select item 1217498	NM_001354604.2(MITF):c.1159C>T (p.His387Tyr)	MITF (H218Y +9 more)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
Select item 1204757	NM_001354604.2(MITF):c.1229C>T (p.Thr410Met)	MITF (T241M +9 more)	Single nucleotide variant (missense variant)	Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness +5 more	GUncertain significance
Select item 346498	NM_001354604.2(MITF):c.1259G>A (p.Arg420Gln)	MITF (R313Q +9 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +5 more	GUncertain significance
Select item 29792	NM_001354604.2(MITF):c.1273G>A (p.Glu425Lys)	MITF (E318K +9 more)	Single nucleotide variant (missense variant)	Tietz syndrome +6 more	GPathogenic/Likely pathogenic; risk factor