"Revvity Omics, Revvity"[submitter] AND "LOC126861535"[gene] - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 960181	NM_002206.3(ITGA7):c.2534C>T (p.Thr845Met)	ITGA7, LOC126861535 (T849M +13 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 943593	NM_002206.3(ITGA7):c.2476G>A (p.Gly826Ser)	ITGA7, LOC126861535 (G378S +13 more)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GUncertain significance
Select item 537991	NM_002206.3(ITGA7):c.2470G>T (p.Val824Leu)	ITGA7, LOC126861535 (V731L +13 more)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GUncertain significance
Select item 569702	NM_002206.3(ITGA7):c.2467G>A (p.Val823Met)	ITGA7, LOC126861535 (V730M +13 more)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GUncertain significance
Select item 1425593	NM_002206.3(ITGA7):c.2452C>T (p.Leu818Phe)	ITGA7, LOC126861535 (L812F +13 more)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GUncertain significance
Select item 1307125	NM_002206.3(ITGA7):c.2428G>C (p.Ala810Pro)	ITGA7, LOC126861535 (A362P +13 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 537994	NM_002206.3(ITGA7):c.2399G>A (p.Arg800His)	ITGA7, LOC126861535 (R707H +13 more)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GUncertain significance
Select item 844274	NM_002206.3(ITGA7):c.2392C>T (p.Arg798Ter)	ITGA7, LOC126861535 (R792* +13 more)	Single nucleotide variant (nonsense)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GPathogenic/Likely pathogenic
Select item 162572	NM_002206.3(ITGA7):c.2357+1G>A	ITGA7, LOC126861535	Single nucleotide variant (splice donor variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2154859	NM_002206.3(ITGA7):c.2357C>T (p.Thr786Met)	ITGA7, LOC126861535 (T711M +13 more)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GUncertain significance
Select item 2432906	NM_002206.3(ITGA7):c.2286C>A (p.Phe762Leu)	ITGA7, LOC126861535 (F314L +13 more)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GUncertain significance
Select item 1045894	NM_002206.3(ITGA7):c.2282C>G (p.Thr761Ser)	ITGA7, LOC126861535 (T652S +13 more)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GUncertain significance
Select item 2432889	NM_002206.3(ITGA7):c.2281A>G (p.Thr761Ala)	ITGA7, LOC126861535 (T313A +13 more)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency +1 more	GUncertain significance
Select item 252541	NM_002206.3(ITGA7):c.2278G>A (p.Val760Ile)	ITGA7, LOC126861535 (V760I +13 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2042548	NM_002206.3(ITGA7):c.2269G>A (p.Gly757Ser)	ITGA7, LOC126861535 (G644S +13 more)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GUncertain significance
Select item 1929240	NM_002206.3(ITGA7):c.2143G>A (p.Val715Ile)	ITGA7, LOC126861535 (V606I +12 more)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency +1 more	GUncertain significance
Select item 2432904	NM_002206.3(ITGA7):c.2121T>G (p.Asp707Glu)	ITGA7, LOC126861535 (D259E +12 more)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GUncertain significance
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 2432895	NM_002206.3(ITGA7):c.2053A>G (p.Ile685Val)	ITGA7, LOC126861535 (I237V +12 more)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GUncertain significance