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Items: 1 to 100 of 111

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC126861648, LOC126861649
+4836 more
Copy number gain
See cases
GPathogenic
LRRIQ1, LUM
+287 more
Copy number loss
See cases
GPathogenic
KITLG
(E241fs +1 more)
Microsatellite
(frameshift variant)
not provided
GUncertain significance
KITLG
(K238fs +1 more)
Deletion
(frameshift variant)
not provided
GUncertain significance
KITLG
Duplication
(intron variant)
not provided
GBenign
KITLG
Single nucleotide variant
(intron variant)
not provided
GLikely benign
KITLG
Single nucleotide variant
(intron variant)
not provided
GLikely benign
KITLG
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
KITLG
Single nucleotide variant
(splice acceptor variant)
Autosomal dominant nonsyndromic hearing loss 69
+1 more
GConflicting classifications of pathogenicity
KITLG
Single nucleotide variant
(intron variant)
not provided
GBenign
KITLG
Single nucleotide variant
(intron variant)
not provided
GLikely benign
KITLG
Single nucleotide variant
(synonymous variant)
not specified
+1 more
GLikely benign
KITLG
(Y208H +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KITLG
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
KITLG
(I199T +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KITLG
Single nucleotide variant
(synonymous variant)
KITLG-related condition
GLikely benign
KITLG
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
KITLG
(S183F +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KITLG
(D182G +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
KITLG
(D210Y +1 more)
Single nucleotide variant
(missense variant)
not specified
+1 more
GBenign
KITLG
Single nucleotide variant
(intron variant)
not provided
GLikely benign
KITLG
(D196E)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
KITLG
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
KITLG
(M184fs)
Deletion
(frameshift variant +1 more)
Waardenburg syndrome, IIa 2F
GPathogenic
KITLG
(F183L)
Single nucleotide variant
(missense variant +1 more)
KITLG-related condition
GUncertain significance
KITLG
Single nucleotide variant
(intron variant)
not provided
GBenign
KITLG
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
KITLG
(S170N)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KITLG
(A157V)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
KITLG
Single nucleotide variant
(missense variant)
Waardenburg syndrome, IIa 2F
GPathogenic
KITLG
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
KITLG
(R142*)
Single nucleotide variant
(nonsense)
not provided
GUncertain significance
KITLG
(P130S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KITLG
(S129T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KITLG
(S126fs)
Duplication
(frameshift variant)
KITLG-related condition
GUncertain significance
KITLG
(S126T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
KITLG
(D122G)
Single nucleotide variant
(missense variant)
KITLG-related condition
+1 more
GUncertain significance
KITLG
Single nucleotide variant
(splice acceptor variant)
not provided
GUncertain significance
KITLG
Single nucleotide variant
(intron variant)
not provided
GLikely benign
KITLG
Single nucleotide variant
(intron variant)
not provided
GBenign
KITLG
Single nucleotide variant
(intron variant)
not provided
GBenign
KITLG
Single nucleotide variant
(intron variant)
not provided
GBenign
KITLG
(V115M)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KITLG
(E113D)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KITLG
(V112fs)
Deletion
(frameshift variant)
not provided
GUncertain significance
KITLG
(I107K)
Single nucleotide variant
(missense variant)
Hyperpigmentation with or without hypopigmentation, familial progressive
GUncertain significance
KITLG
(I107V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
KITLG
(L104V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KITLG
Indel
(nonsense)
Autosomal dominant nonsyndromic hearing loss 69
GPathogenic
KITLG
(G94A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KITLG
Single nucleotide variant
(synonymous variant)
not specified
GLikely benign
KITLG
(Q76E)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KITLG
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign
KITLG
Deletion
(inframe_indel)
Autosomal dominant nonsyndromic hearing loss 69
GPathogenic
KITLG
Single nucleotide variant
(splice acceptor variant)
not provided
GUncertain significance
KITLG
Single nucleotide variant
(intron variant)
not provided
GLikely benign
KITLG
Single nucleotide variant
(intron variant)
not provided
GLikely benign
KITLG
Single nucleotide variant
(intron variant)
not provided
GLikely benign
KITLG
Single nucleotide variant
(intron variant)
not provided
GBenign
KITLG
Single nucleotide variant
(intron variant)
not provided
GBenign
KITLG
(G60R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KITLG
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign/Likely benign
KITLG
(T54A)
Single nucleotide variant
(missense variant)
KITLG-related condition
+1 more
GBenign
KITLG
(Y51del)
Deletion
(inframe_deletion)
not specified
+1 more
GUncertain significance
KITLG
Single nucleotide variant
(intron variant)
not provided
GLikely benign
KITLG
Duplication
(intron variant)
not provided
+4 more
GBenign/Likely benign
KITLG
Deletion
(intron variant)
not provided
GBenign
KITLG
Single nucleotide variant
(intron variant)
not provided
GBenign
KITLG
Single nucleotide variant
(intron variant)
not provided
GBenign
KITLG
Single nucleotide variant
(intron variant)
not provided
GLikely benign
KITLG
Single nucleotide variant
(intron variant)
not provided
GLikely benign
KITLG
(T41P)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KITLG
(N36K)
Single nucleotide variant
(missense variant)
Hyperpigmentation with or without hypopigmentation, familial progressive
GPathogenic
KITLG
(N36K)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
KITLG
(N36S)
Single nucleotide variant
(missense variant)
Hyperpigmentation with or without hypopigmentation, familial progressive
GPathogenic
KITLG
(N36H)
Single nucleotide variant
(missense variant)
Hyperpigmentation with or without hypopigmentation, familial progressive
GLikely pathogenic
KITLG
(N35D)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KITLG
(T34P)
Single nucleotide variant
(missense variant)
Hyperpigmentation with or without hypopigmentation, familial progressive
GPathogenic
KITLG
(V33A)
Single nucleotide variant
(missense variant)
Hyperpigmentation with or without hypopigmentation, familial progressive
GPathogenic
KITLG
Single nucleotide variant
(missense variant)
Waardenburg syndrome, IIa 2F
GPathogenic
KITLG
(V23I)
Single nucleotide variant
(missense variant)
not provided
GConflicting classifications of pathogenicity
KITLG
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
KITLG
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
KITLG
(N20Y)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KITLG
(L17F)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KITLG
Single nucleotide variant
(splice acceptor variant)
Autosomal dominant nonsyndromic hearing loss 69
GLikely pathogenic
KITLG
Single nucleotide variant
(intron variant)
not provided
GLikely benign
KITLG
Single nucleotide variant
(intron variant)
not provided
GBenign
KITLG
Single nucleotide variant
(intron variant)
not provided
GLikely benign
KITLG
Single nucleotide variant
(intron variant)
not provided
GBenign
KITLG
Single nucleotide variant
(intron variant)
not provided
GLikely benign
KITLG
Single nucleotide variant
(intron variant)
not provided
GLikely benign
KITLG
Single nucleotide variant
(intron variant)
Waardenburg syndrome, IIa 2F
GUncertain significance
KITLG
Single nucleotide variant
(splice donor variant)
not specified
GUncertain significance
KITLG
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
KITLG
(M1K)
Single nucleotide variant
(missense variant +1 more)
Autosomal dominant nonsyndromic hearing loss 69
GUncertain significance
KITLG
Single nucleotide variant
(5 prime UTR variant)
not specified
GLikely benign
KITLG
Single nucleotide variant
not provided
GBenign
KITLG
Single nucleotide variant
SKIN/HAIR/EYE PIGMENTATION 7, DARK/LIGHT SKIN
GAffects
KITLG
Single nucleotide variant
SKIN/HAIR/EYE PIGMENTATION 7, DARK/LIGHT SKIN
GAffects
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