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Links from MedGen

Items: 51

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CLCN7
(K186R +1 more)
Single nucleotide variant
(missense variant)
Autosomal recessive osteopetrosis 4
GUncertain significance
CLCN7
(Y578* +1 more)
Single nucleotide variant
(nonsense)
Autosomal recessive osteopetrosis 4
GLikely pathogenic
CLCN7
Single nucleotide variant
(splice donor variant)
Autosomal recessive osteopetrosis 4
GLikely pathogenic
CLCN7
(A441D +1 more)
Single nucleotide variant
(missense variant)
Autosomal recessive osteopetrosis 4
GLikely pathogenic
CLCN7
(S274fs +1 more)
Duplication
(frameshift variant)
Autosomal recessive osteopetrosis 4
GPathogenic
CLCN7
(S411L +1 more)
Single nucleotide variant
(missense variant)
Autosomal recessive osteopetrosis 4
GLikely pathogenic
CLCN7
(K522R +1 more)
Single nucleotide variant
(missense variant)
Autosomal recessive osteopetrosis 4
GUncertain significance
CLCN7
(E548fs +1 more)
Deletion
(frameshift variant)
Autosomal recessive osteopetrosis 4
GLikely pathogenic
CLCN7
(G179D +1 more)
Single nucleotide variant
(missense variant)
Autosomal recessive osteopetrosis 4
GUncertain significance
CLCN7
Single nucleotide variant
(splice acceptor variant)
Autosomal recessive osteopetrosis 4
+1 more
GLikely pathogenic
CLCN7
(I122del +1 more)
Deletion
(inframe_deletion)
Hypopigmentation, organomegaly, and delayed myelination and development
+1 more
GUncertain significance
CLCN7
(R379Q +1 more)
Single nucleotide variant
(missense variant)
Autosomal recessive osteopetrosis 4
GUncertain significance
CLCN7
(R537W +1 more)
Single nucleotide variant
(missense variant)
Autosomal recessive osteopetrosis 4
GLikely pathogenic
CLCN7
(I351M +1 more)
Single nucleotide variant
(missense variant)
Autosomal recessive osteopetrosis 4
GLikely pathogenic
CLCN7
(A267T +1 more)
Single nucleotide variant
(missense variant)
Autosomal dominant osteopetrosis 2
+4 more
GUncertain significance
CLCN7
Single nucleotide variant
(intron variant)
not provided
+3 more
GUncertain significance
CLCN7
(R271Q +1 more)
Single nucleotide variant
(missense variant)
Hypopigmentation, organomegaly, and delayed myelination and development
+3 more
GConflicting classifications of pathogenicity
CLCN7
(G772fs +1 more)
Microsatellite
(frameshift variant)
Autosomal recessive osteopetrosis 4
+1 more
GConflicting classifications of pathogenicity
CLCN7
(V281M +1 more)
Single nucleotide variant
(missense variant)
Autosomal recessive osteopetrosis 4
GUncertain significance
CLCN7
(N335K +1 more)
Single nucleotide variant
(missense variant)
Hypopigmentation, organomegaly, and delayed myelination and development
+2 more
GLikely pathogenic
CLCN7
Duplication
(intron variant)
not provided
+3 more
GBenign
CLCN7
Single nucleotide variant
(intron variant)
not provided
+3 more
GBenign
CLCN7
Single nucleotide variant
(intron variant)
Autosomal recessive osteopetrosis 4
+3 more
GBenign
CLCN7
Single nucleotide variant
(intron variant)
Hypopigmentation, organomegaly, and delayed myelination and development
+3 more
GBenign
CLCN7
Single nucleotide variant
(intron variant)
Hypopigmentation, organomegaly, and delayed myelination and development
+3 more
GBenign
CLCN7
Single nucleotide variant
(intron variant)
Hypopigmentation, organomegaly, and delayed myelination and development
+3 more
GBenign
CLCN7
Single nucleotide variant
(intron variant)
Hypopigmentation, organomegaly, and delayed myelination and development
+3 more
GBenign
CLCN7
Single nucleotide variant
(intron variant)
Autosomal dominant osteopetrosis 2
+3 more
GBenign
CLCN7
Single nucleotide variant
(intron variant)
Autosomal recessive osteopetrosis 4
+3 more
GBenign
CLCN7
(K522fs +1 more)
Deletion
(frameshift variant)
Autosomal recessive osteopetrosis 4
GLikely pathogenic
CLCN7
(V754F +1 more)
Single nucleotide variant
(missense variant)
Autosomal recessive osteopetrosis 4
GLikely pathogenic
CLCN7, LOC130058166
Single nucleotide variant
(intron variant)
Autosomal recessive osteopetrosis 4
+3 more
GBenign/Likely benign
CLCN7
(G497R +1 more)
Single nucleotide variant
(missense variant)
Autosomal recessive osteopetrosis 4
GPathogenic
CLCN7
Single nucleotide variant
(intron variant)
not provided
+2 more
GPathogenic/Likely pathogenic
CLCN7
Single nucleotide variant
(intron variant)
Autosomal recessive osteopetrosis 4
+1 more
GPathogenic
CLCN7
(R256H +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
CLCN7
Single nucleotide variant
(intron variant)
Hypopigmentation, organomegaly, and delayed myelination and development
+3 more
GUncertain significance
CLCN7
Single nucleotide variant
(splice donor variant)
Autosomal recessive osteopetrosis 4
GPathogenic
CLCN7
(G389R +1 more)
Single nucleotide variant
(missense variant)
Autosomal recessive osteopetrosis 4
GUncertain significance
CLCN7
(N214S +1 more)
Single nucleotide variant
(missense variant)
Autosomal recessive osteopetrosis 4
GUncertain significance
CLCN7
(R537Q +1 more)
Single nucleotide variant
(missense variant)
Autosomal recessive osteopetrosis 4
GLikely pathogenic
CLCN7
(R286Q +1 more)
Single nucleotide variant
(missense variant)
CLCN7-related disorder
+5 more
GConflicting classifications of pathogenicity
CLCN7
Single nucleotide variant
(synonymous variant)
not provided
+5 more
GBenign
CLCN7, LOC130058166
Single nucleotide variant
(synonymous variant)
not specified
+5 more
GBenign
CLCN7
(V418M +1 more)
Single nucleotide variant
(missense variant)
not specified
+3 more
GBenign/Likely benign
CLCN7
(Y99C +1 more)
Single nucleotide variant
(missense variant)
not provided
GPathogenic/Likely pathogenic
CLCN7
(I261F +1 more)
Single nucleotide variant
(missense variant)
Autosomal recessive osteopetrosis 4
GPathogenic
CLCN7
(R767W +1 more)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
CLCN7
(L766P +1 more)
Single nucleotide variant
(missense variant)
Autosomal recessive osteopetrosis 4
GPathogenic
CLCN7
(R762Q +1 more)
Single nucleotide variant
(missense variant)
Autosomal recessive osteopetrosis 4
GPathogenic
CLCN7
(Q555* +1 more)
Single nucleotide variant
(nonsense)
Autosomal recessive osteopetrosis 4
GPathogenic
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