"Genetic Services Laboratory, University of Chicago"[submitter] AND "I - ClinVar - NCBI

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

Search results

Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 129297	NM_002206.3(ITGA7):c.3384C>T (p.Pro1128=)	ITGA7	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 435533	NM_002206.3(ITGA7):c.3323G>A (p.Arg1108Gln)	ITGA7 (R1015Q +13 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 129296	NM_002206.3(ITGA7):c.3144G>C (p.Gly1048=)	ITGA7	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 129295	NM_002206.3(ITGA7):c.3031T>C (p.Leu1011=)	ITGA7	Single nucleotide variant (synonymous variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency +2 more	GBenign
Select item 129294	NM_002206.3(ITGA7):c.3018C>G (p.Ser1006=)	ITGA7	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
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 94039	NM_002206.3(ITGA7):c.2433-5G>A	ITGA7, LOC126861535	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 383215	NM_002206.3(ITGA7):c.2146A>C (p.Met716Leu)	ITGA7, LOC126861535 (M623L +12 more)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency +2 more	GConflicting classifications of pathogenicity
Select item 94036	NM_002206.3(ITGA7):c.1965T>C (p.Cys655=)	ITGA7	Single nucleotide variant (synonymous variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency +1 more	GBenign
Select item 94035	NM_002206.3(ITGA7):c.1952G>A (p.Arg651His)	ITGA7 (R651H +12 more)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency +1 more	GBenign
Select item 129292	NM_002206.3(ITGA7):c.1617G>T (p.Gln539His)	ITGA7 (Q539H +12 more)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 129291	NM_002206.3(ITGA7):c.1088dup (p.His364fs)	ITGA7 (H364fs +3 more)	Duplication (frameshift variant +1 more)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GPathogenic/Likely pathogenic
Select item 258589	NM_002206.3(ITGA7):c.882G>A (p.Val294=)	ITGA7	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 94047	NM_002206.3(ITGA7):c.824G>A (p.Arg275His)	ITGA7 (R275H +7 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GBenign
Select item 94046	NM_002206.3(ITGA7):c.810G>A (p.Gly270=)	ITGA7	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GBenign
Select item 211212	NM_002206.3(ITGA7):c.791-7C>T	ITGA7	Single nucleotide variant (intron variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency +3 more	GBenign/Likely benign
Select item 94045	NM_002206.3(ITGA7):c.415-10C>T	ITGA7	Single nucleotide variant (intron variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency +1 more	GBenign
Select item 129293	NM_002206.3(ITGA7):c.285G>T (p.Pro95=)	ITGA7	Single nucleotide variant (synonymous variant +2 more)	Congenital muscular dystrophy due to integrin alpha-7 deficiency +1 more	GBenign
Select item 435534	NM_002206.3(ITGA7):c.7G>A (p.Gly3Arg)	ITGA7 (G3R)	Single nucleotide variant (missense variant +2 more)	Congenital muscular dystrophy due to integrin alpha-7 deficiency +1 more	GUncertain significance