C2750786[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 470578	NM_002206.3(ITGA7):c.3203C>T (p.Ala1068Val)	ITGA7 (A1068V +13 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 373222	NM_002206.3(ITGA7):c.2909C>T (p.Ala970Val)	ITGA7 (A877V +13 more)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency +1 more	GUncertain significance
Select item 211211	NM_002206.3(ITGA7):c.2701A>G (p.Ile901Val)	ITGA7 (I901V +13 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 94038	NM_002206.3(ITGA7):c.2087C>T (p.Ser696Leu)	ITGA7, LOC126861535 (S696L +12 more)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency +2 more	GUncertain significance
Select item 287413	NM_002206.3(ITGA7):c.2035C>A (p.Leu679Met)	ITGA7, LOC126861535 (L679M +12 more)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency +2 more	GUncertain significance
Select item 470570	NM_002206.3(ITGA7):c.1879C>T (p.Arg627Trp)	ITGA7 (R627W +12 more)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 258583	NM_002206.3(ITGA7):c.1609C>T (p.Arg537Trp)	ITGA7 (R537W +12 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 193638	NM_002206.3(ITGA7):c.1410-3del	ITGA7	Deletion (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 936615	NM_002206.3(ITGA7):c.307T>A (p.Cys103Ser)	ITGA7 (C103S)	Single nucleotide variant (missense variant +2 more)	Congenital muscular dystrophy due to integrin alpha-7 deficiency +1 more	GUncertain significance