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Links from MedGen

Items: 1 to 100 of 836

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ITGA7
Single nucleotide variant
(splice donor variant +1 more)
Congenital muscular dystrophy due to integrin alpha-7 deficiency
GLikely pathogenic
ITGA7
Single nucleotide variant
(synonymous variant)
Congenital muscular dystrophy due to integrin alpha-7 deficiency
GLikely benign
ITGA7
Single nucleotide variant
(synonymous variant +1 more)
Congenital muscular dystrophy due to integrin alpha-7 deficiency
GLikely benign
ITGA7
Single nucleotide variant
(synonymous variant +2 more)
Congenital muscular dystrophy due to integrin alpha-7 deficiency
GLikely benign
ITGA7
Single nucleotide variant
(splice acceptor variant)
Congenital muscular dystrophy due to integrin alpha-7 deficiency
GLikely pathogenic
ITGA7, LOC126861535
Single nucleotide variant
(intron variant)
Congenital muscular dystrophy due to integrin alpha-7 deficiency
GLikely benign
LOC126861535, ITGA7
(Q718* +13 more)
Single nucleotide variant
(nonsense)
Congenital muscular dystrophy due to integrin alpha-7 deficiency
GPathogenic
ITGA7
Single nucleotide variant
(intron variant)
Congenital muscular dystrophy due to integrin alpha-7 deficiency
GLikely benign
ITGA7
Single nucleotide variant
(synonymous variant +1 more)
Congenital muscular dystrophy due to integrin alpha-7 deficiency
GLikely benign
ITGA7
Single nucleotide variant
(5 prime UTR variant +2 more)
Congenital muscular dystrophy due to integrin alpha-7 deficiency
GLikely benign
ITGA7
Single nucleotide variant
(intron variant)
Congenital muscular dystrophy due to integrin alpha-7 deficiency
GLikely benign
ITGA7
Single nucleotide variant
(intron variant)
Congenital muscular dystrophy due to integrin alpha-7 deficiency
GLikely benign
ITGA7
Single nucleotide variant
(synonymous variant)
Congenital muscular dystrophy due to integrin alpha-7 deficiency
GLikely benign
ITGA7
Single nucleotide variant
(synonymous variant +2 more)
Congenital muscular dystrophy due to integrin alpha-7 deficiency
GLikely benign
ITGA7
Single nucleotide variant
(intron variant)
Congenital muscular dystrophy due to integrin alpha-7 deficiency
GUncertain significance
ITGA7, LOC126861535
Single nucleotide variant
(synonymous variant +1 more)
Congenital muscular dystrophy due to integrin alpha-7 deficiency
GLikely benign
ITGA7
Single nucleotide variant
(synonymous variant)
Congenital muscular dystrophy due to integrin alpha-7 deficiency
GLikely benign
ITGA7
Single nucleotide variant
(intron variant)
Congenital muscular dystrophy due to integrin alpha-7 deficiency
GLikely benign
ITGA7, LOC126861535
Single nucleotide variant
(synonymous variant +1 more)
Congenital muscular dystrophy due to integrin alpha-7 deficiency
GLikely benign
ITGA7
Single nucleotide variant
(intron variant)
Congenital muscular dystrophy due to integrin alpha-7 deficiency
GLikely benign
ITGA7
Single nucleotide variant
(synonymous variant)
Congenital muscular dystrophy due to integrin alpha-7 deficiency
GLikely benign
ITGA7
(L330fs +9 more)
Deletion
(frameshift variant +1 more)
Congenital muscular dystrophy due to integrin alpha-7 deficiency
GPathogenic
ITGA7, LOC126861535
Single nucleotide variant
(splice acceptor variant +1 more)
Congenital muscular dystrophy due to integrin alpha-7 deficiency
GLikely pathogenic
ITGA7, LOC126861535
Single nucleotide variant
(synonymous variant +1 more)
Congenital muscular dystrophy due to integrin alpha-7 deficiency
GLikely benign
ITGA7
Single nucleotide variant
(5 prime UTR variant +2 more)
Congenital muscular dystrophy due to integrin alpha-7 deficiency
GLikely benign
ITGA7
Single nucleotide variant
(5 prime UTR variant +1 more)
Congenital muscular dystrophy due to integrin alpha-7 deficiency
GLikely benign
ITGA7
Single nucleotide variant
(synonymous variant)
Congenital muscular dystrophy due to integrin alpha-7 deficiency
GLikely benign
ITGA7
Single nucleotide variant
(intron variant)
Congenital muscular dystrophy due to integrin alpha-7 deficiency
GUncertain significance
ITGA7
Single nucleotide variant
(synonymous variant +1 more)
Congenital muscular dystrophy due to integrin alpha-7 deficiency
GLikely benign
ITGA7
Single nucleotide variant
(synonymous variant +1 more)
Congenital muscular dystrophy due to integrin alpha-7 deficiency
GLikely benign
ITGA7
(T208fs +12 more)
Deletion
(frameshift variant)
Congenital muscular dystrophy due to integrin alpha-7 deficiency
GPathogenic
ITGA7
(E917fs +5 more)
Duplication
(frameshift variant)
Congenital muscular dystrophy due to integrin alpha-7 deficiency
GPathogenic
ITGA7
(Y353S +9 more)
Single nucleotide variant
(missense variant +1 more)
Congenital muscular dystrophy due to integrin alpha-7 deficiency
GUncertain significance
ITGA7
Single nucleotide variant
(synonymous variant +2 more)
Congenital muscular dystrophy due to integrin alpha-7 deficiency
GLikely benign
ITGA7
Single nucleotide variant
(intron variant)
Congenital muscular dystrophy due to integrin alpha-7 deficiency
GLikely benign
ITGA7
Single nucleotide variant
(intron variant)
Congenital muscular dystrophy due to integrin alpha-7 deficiency
GLikely benign
ITGA7
Single nucleotide variant
(intron variant)
Congenital muscular dystrophy due to integrin alpha-7 deficiency
GLikely benign
ITGA7, LOC126861535
Single nucleotide variant
(intron variant)
Congenital muscular dystrophy due to integrin alpha-7 deficiency
GLikely benign
ITGA7
Single nucleotide variant
(5 prime UTR variant +2 more)
Congenital muscular dystrophy due to integrin alpha-7 deficiency
GLikely benign
ITGA7, LOC126861535
(Q646fs +13 more)
Deletion
(frameshift variant)
Congenital muscular dystrophy due to integrin alpha-7 deficiency
GPathogenic
ITGA7
(D235V +3 more)
Single nucleotide variant
(missense variant +1 more)
Congenital muscular dystrophy due to integrin alpha-7 deficiency
GUncertain significance
ITGA7
Single nucleotide variant
(synonymous variant)
Congenital muscular dystrophy due to integrin alpha-7 deficiency
GLikely benign
ITGA7
Single nucleotide variant
(intron variant)
Congenital muscular dystrophy due to integrin alpha-7 deficiency
GLikely benign
ITGA7
Single nucleotide variant
(synonymous variant +2 more)
Congenital muscular dystrophy due to integrin alpha-7 deficiency
GLikely benign
ITGA7, LOC126861535
Single nucleotide variant
(synonymous variant)
Congenital muscular dystrophy due to integrin alpha-7 deficiency
GLikely benign
ITGA7
Single nucleotide variant
(synonymous variant +2 more)
Congenital muscular dystrophy due to integrin alpha-7 deficiency
GLikely benign
ITGA7
(G1036V +13 more)
Single nucleotide variant
(missense variant)
Congenital muscular dystrophy due to integrin alpha-7 deficiency
GUncertain significance
ITGA7
Single nucleotide variant
(intron variant)
Congenital muscular dystrophy due to integrin alpha-7 deficiency
GLikely benign
ITGA7
(A847fs +13 more)
Deletion
(frameshift variant)
Congenital muscular dystrophy due to integrin alpha-7 deficiency
GPathogenic
ITGA7, LOC126861535
Single nucleotide variant
(intron variant)
Congenital muscular dystrophy due to integrin alpha-7 deficiency
GLikely benign
ITGA7
Single nucleotide variant
(intron variant)
Congenital muscular dystrophy due to integrin alpha-7 deficiency
GLikely benign
ITGA7
Single nucleotide variant
(intron variant)
Congenital muscular dystrophy due to integrin alpha-7 deficiency
GLikely benign
ITGA7
(I476fs +12 more)
Deletion
(frameshift variant)
Congenital muscular dystrophy due to integrin alpha-7 deficiency
GPathogenic
ITGA7
Single nucleotide variant
(intron variant)
Congenital muscular dystrophy due to integrin alpha-7 deficiency
GUncertain significance
ITGA7
Single nucleotide variant
(synonymous variant)
Congenital muscular dystrophy due to integrin alpha-7 deficiency
GLikely benign
ITGA7
Single nucleotide variant
(synonymous variant)
Congenital muscular dystrophy due to integrin alpha-7 deficiency
GLikely benign
ITGA7
Single nucleotide variant
(synonymous variant)
Congenital muscular dystrophy due to integrin alpha-7 deficiency
GLikely benign
ITGA7, LOC126861535
Single nucleotide variant
(synonymous variant)
Congenital muscular dystrophy due to integrin alpha-7 deficiency
GLikely benign
ITGA7
Single nucleotide variant
(intron variant)
Congenital muscular dystrophy due to integrin alpha-7 deficiency
GLikely benign
ITGA7
Single nucleotide variant
(intron variant)
Congenital muscular dystrophy due to integrin alpha-7 deficiency
GLikely benign
ITGA7
Single nucleotide variant
(intron variant)
Congenital muscular dystrophy due to integrin alpha-7 deficiency
GLikely benign
ITGA7
Single nucleotide variant
(intron variant)
Congenital muscular dystrophy due to integrin alpha-7 deficiency
GLikely benign
ITGA7
Single nucleotide variant
(intron variant)
Congenital muscular dystrophy due to integrin alpha-7 deficiency
GLikely benign
ITGA7
Single nucleotide variant
(intron variant)
Congenital muscular dystrophy due to integrin alpha-7 deficiency
GUncertain significance
ITGA7
Single nucleotide variant
(synonymous variant +2 more)
Congenital muscular dystrophy due to integrin alpha-7 deficiency
GLikely benign
ITGA7
Single nucleotide variant
(intron variant)
Congenital muscular dystrophy due to integrin alpha-7 deficiency
GLikely benign
ITGA7
Single nucleotide variant
(intron variant)
Congenital muscular dystrophy due to integrin alpha-7 deficiency
GLikely benign
ITGA7
Single nucleotide variant
(synonymous variant)
Congenital muscular dystrophy due to integrin alpha-7 deficiency
GLikely benign
ITGA7
(D418G +12 more)
Indel
(missense variant)
Congenital muscular dystrophy due to integrin alpha-7 deficiency
GUncertain significance
ITGA7
(I1001L +13 more)
Inversion
(missense variant)
Congenital muscular dystrophy due to integrin alpha-7 deficiency
GUncertain significance
ITGA7
(R202P +7 more)
Single nucleotide variant
(missense variant +1 more)
Congenital muscular dystrophy due to integrin alpha-7 deficiency
GUncertain significance
ITGA7
(D376N +10 more)
Single nucleotide variant
(missense variant)
Congenital muscular dystrophy due to integrin alpha-7 deficiency
+1 more
GUncertain significance
ITGA7
(Q150P +12 more)
Single nucleotide variant
(missense variant)
Congenital muscular dystrophy due to integrin alpha-7 deficiency
GUncertain significance
ITGA7
(W1009L +13 more)
Single nucleotide variant
(missense variant)
Congenital muscular dystrophy due to integrin alpha-7 deficiency
GUncertain significance
ITGA7
(I300N +9 more)
Single nucleotide variant
(missense variant +1 more)
Congenital muscular dystrophy due to integrin alpha-7 deficiency
GUncertain significance
ITGA7
(F114C +3 more)
Single nucleotide variant
(missense variant +1 more)
Congenital muscular dystrophy due to integrin alpha-7 deficiency
GUncertain significance
ITGA7
(S263F +7 more)
Single nucleotide variant
(missense variant +1 more)
Congenital muscular dystrophy due to integrin alpha-7 deficiency
GUncertain significance
ITGA7
(G250R +7 more)
Single nucleotide variant
(missense variant +1 more)
Congenital muscular dystrophy due to integrin alpha-7 deficiency
GUncertain significance
ITGA7
(R202C +7 more)
Single nucleotide variant
(missense variant +1 more)
Congenital muscular dystrophy due to integrin alpha-7 deficiency
GUncertain significance
ITGA7, LOC126861535
(F314L +13 more)
Single nucleotide variant
(missense variant)
Congenital muscular dystrophy due to integrin alpha-7 deficiency
GUncertain significance
ITGA7
(I1014M +13 more)
Single nucleotide variant
(missense variant)
Congenital muscular dystrophy due to integrin alpha-7 deficiency
GUncertain significance
ITGA7, LOC126861535
(D259E +12 more)
Single nucleotide variant
(missense variant)
Congenital muscular dystrophy due to integrin alpha-7 deficiency
GUncertain significance
ITGA7
(S387W +10 more)
Single nucleotide variant
(missense variant)
Congenital muscular dystrophy due to integrin alpha-7 deficiency
GUncertain significance
ITGA7
(A410G +10 more)
Single nucleotide variant
(missense variant +1 more)
Congenital muscular dystrophy due to integrin alpha-7 deficiency
GUncertain significance
ITGA7
(A85T)
Single nucleotide variant
(missense variant +2 more)
Congenital muscular dystrophy due to integrin alpha-7 deficiency
GUncertain significance
ITGA7
(V242G +7 more)
Single nucleotide variant
(missense variant +1 more)
Congenital muscular dystrophy due to integrin alpha-7 deficiency
GUncertain significance
ITGA7
(R1003Q +13 more)
Single nucleotide variant
(missense variant)
Congenital muscular dystrophy due to integrin alpha-7 deficiency
GUncertain significance
ITGA7
(E165K +7 more)
Single nucleotide variant
(missense variant +1 more)
Congenital muscular dystrophy due to integrin alpha-7 deficiency
GUncertain significance
ITGA7, LOC126861535
(I237V +12 more)
Single nucleotide variant
(missense variant)
Congenital muscular dystrophy due to integrin alpha-7 deficiency
GUncertain significance
ITGA7
(S127T +1 more)
Single nucleotide variant
(missense variant +2 more)
Congenital muscular dystrophy due to integrin alpha-7 deficiency
GUncertain significance
ITGA7
(L1038V +13 more)
Single nucleotide variant
(missense variant)
Congenital muscular dystrophy due to integrin alpha-7 deficiency
GUncertain significance
ITGA7
(S490C +13 more)
Single nucleotide variant
(missense variant)
Congenital muscular dystrophy due to integrin alpha-7 deficiency
GUncertain significance
ITGA7, LOC126861535
(T313A +13 more)
Single nucleotide variant
(missense variant)
Congenital muscular dystrophy due to integrin alpha-7 deficiency
GUncertain significance
ITGA7, LOC126861535
Single nucleotide variant
(synonymous variant)
Congenital muscular dystrophy due to integrin alpha-7 deficiency
GLikely benign
ITGA7
Single nucleotide variant
(synonymous variant +1 more)
Congenital muscular dystrophy due to integrin alpha-7 deficiency
GLikely benign
ITGA7
(M1V)
Single nucleotide variant
(missense variant +3 more)
Congenital muscular dystrophy due to integrin alpha-7 deficiency
GUncertain significance
ITGA7
Deletion
Congenital muscular dystrophy due to integrin alpha-7 deficiency
GPathogenic
ITGA7
(V1013L +13 more)
Single nucleotide variant
(missense variant)
Congenital muscular dystrophy due to integrin alpha-7 deficiency
GUncertain significance
ITGA7, LOC126861535
Single nucleotide variant
(synonymous variant)
Congenital muscular dystrophy due to integrin alpha-7 deficiency
GLikely benign
ITGA7
Single nucleotide variant
(intron variant)
Congenital muscular dystrophy due to integrin alpha-7 deficiency
GLikely benign
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