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Links from MedGen

Items: 1 to 100 of 491

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MITF
Single nucleotide variant
(synonymous variant)
Waardenburg syndrome type 2A
+2 more
GLikely benign
MITF
(T320S +9 more)
Single nucleotide variant
(missense variant)
Waardenburg syndrome type 2A
+2 more
GUncertain significance
MITF
Single nucleotide variant
(intron variant)
Waardenburg syndrome type 2A
+2 more
GLikely benign
MITF
(M165L +5 more)
Single nucleotide variant
(missense variant +1 more)
Waardenburg syndrome type 2A
+2 more
GUncertain significance
MITF
Deletion
(splice donor variant)
Waardenburg syndrome type 2A
+2 more
GLikely pathogenic
MITF
Single nucleotide variant
(intron variant)
Waardenburg syndrome type 2A
+2 more
GLikely benign
MITF
Single nucleotide variant
(intron variant)
Melanoma, cutaneous malignant, susceptibility to, 8
+2 more
GLikely benign
MITF
Single nucleotide variant
(intron variant)
Melanoma, cutaneous malignant, susceptibility to, 8
+2 more
GUncertain significance
MITF
Single nucleotide variant
(intron variant)
Melanoma, cutaneous malignant, susceptibility to, 8
+2 more
GLikely benign
MITF
Single nucleotide variant
(synonymous variant)
Melanoma, cutaneous malignant, susceptibility to, 8
+2 more
GLikely benign
MITF
(V305A +9 more)
Single nucleotide variant
(missense variant)
Melanoma, cutaneous malignant, susceptibility to, 8
+2 more
GUncertain significance
MITF
Deletion
(intron variant +1 more)
Melanoma, cutaneous malignant, susceptibility to, 8
+2 more
GUncertain significance
MITF
(Y10N)
Single nucleotide variant
(missense variant +1 more)
Melanoma, cutaneous malignant, susceptibility to, 8
+2 more
GUncertain significance
MITF
(C275R +9 more)
Single nucleotide variant
(missense variant)
Melanoma, cutaneous malignant, susceptibility to, 8
+2 more
GUncertain significance
MITF
Single nucleotide variant
(intron variant)
Melanoma, cutaneous malignant, susceptibility to, 8
+2 more
GUncertain significance
MITF
Single nucleotide variant
(intron variant)
Melanoma, cutaneous malignant, susceptibility to, 8
+2 more
GLikely benign
MITF
Single nucleotide variant
(intron variant)
Melanoma, cutaneous malignant, susceptibility to, 8
+2 more
GLikely benign
MITF
(H269R +9 more)
Single nucleotide variant
(missense variant)
Melanoma, cutaneous malignant, susceptibility to, 8
+2 more
GUncertain significance
MITF
(M177V +9 more)
Single nucleotide variant
(missense variant)
Melanoma, cutaneous malignant, susceptibility to, 8
+2 more
GUncertain significance
MITF
(L276P +9 more)
Single nucleotide variant
(missense variant)
Melanoma, cutaneous malignant, susceptibility to, 8
+2 more
GUncertain significance
MITF
Single nucleotide variant
(synonymous variant)
Melanoma, cutaneous malignant, susceptibility to, 8
+2 more
GLikely benign
MITF
Single nucleotide variant
(synonymous variant)
Melanoma, cutaneous malignant, susceptibility to, 8
+2 more
GLikely benign
MITF
Single nucleotide variant
(splice donor variant)
Melanoma, cutaneous malignant, susceptibility to, 8
+2 more
GLikely pathogenic
MITF
(D381G +9 more)
Single nucleotide variant
(missense variant)
Melanoma, cutaneous malignant, susceptibility to, 8
+2 more
GUncertain significance
MITF
Single nucleotide variant
(intron variant)
Melanoma, cutaneous malignant, susceptibility to, 8
+2 more
GLikely benign
MITF
(P155T +5 more)
Single nucleotide variant
(missense variant +1 more)
Melanoma, cutaneous malignant, susceptibility to, 8
+2 more
GUncertain significance
MITF
(M168L +5 more)
Single nucleotide variant
(missense variant +1 more)
Melanoma, cutaneous malignant, susceptibility to, 8
+2 more
GUncertain significance
MITF
Single nucleotide variant
(synonymous variant +1 more)
Melanoma, cutaneous malignant, susceptibility to, 8
+2 more
GLikely benign
MITF
Single nucleotide variant
(synonymous variant)
Melanoma, cutaneous malignant, susceptibility to, 8
+2 more
GUncertain significance
MITF
(Q229E +9 more)
Single nucleotide variant
(missense variant)
Melanoma, cutaneous malignant, susceptibility to, 8
+2 more
GUncertain significance
MITF
(I377T +9 more)
Single nucleotide variant
(missense variant)
Melanoma, cutaneous malignant, susceptibility to, 8
+2 more
GUncertain significance
MITF
Single nucleotide variant
(intron variant)
Melanoma, cutaneous malignant, susceptibility to, 8
+2 more
GLikely benign
MITF
Single nucleotide variant
(intron variant)
Melanoma, cutaneous malignant, susceptibility to, 8
+2 more
GLikely benign
MITF
(L130* +5 more)
Single nucleotide variant
(nonsense +1 more)
Tietz syndrome
+2 more
GPathogenic
MITF
(S346R +9 more)
Single nucleotide variant
(missense variant)
Tietz syndrome
+2 more
GUncertain significance
MITF
(A301D +9 more)
Single nucleotide variant
(missense variant)
Tietz syndrome
+2 more
GUncertain significance
MITF
Single nucleotide variant
(synonymous variant)
Tietz syndrome
+2 more
GLikely benign
MITF
Single nucleotide variant
(synonymous variant)
Tietz syndrome
+2 more
GLikely benign
MITF
(H105N +5 more)
Single nucleotide variant
(missense variant)
Tietz syndrome
+2 more
GUncertain significance
MITF
(E37K +6 more)
Single nucleotide variant
(missense variant)
Tietz syndrome
+2 more
GUncertain significance
MITF
(L219F +9 more)
Single nucleotide variant
(missense variant)
Tietz syndrome
+2 more
GUncertain significance
MITF
Single nucleotide variant
(intron variant)
Tietz syndrome
+2 more
GLikely benign
MITF
Single nucleotide variant
(intron variant)
Tietz syndrome
+2 more
GLikely benign
MITF
(D263A +6 more)
Single nucleotide variant
(missense variant)
Tietz syndrome
+2 more
GUncertain significance
MITF
(S112C +6 more)
Single nucleotide variant
(missense variant)
Tietz syndrome
+2 more
GUncertain significance
MITF
Single nucleotide variant
(intron variant)
Tietz syndrome
+2 more
GLikely benign
MITF
Single nucleotide variant
(intron variant)
Tietz syndrome
+2 more
GUncertain significance
MITF
(L463P +9 more)
Single nucleotide variant
(missense variant)
Tietz syndrome
+2 more
GUncertain significance
MITF
(L368P +9 more)
Single nucleotide variant
(missense variant)
Tietz syndrome
+2 more
GUncertain significance
MITF
Single nucleotide variant
(synonymous variant)
Tietz syndrome
+2 more
GLikely benign
MITF
(N40D +6 more)
Single nucleotide variant
(missense variant)
Tietz syndrome
+2 more
GUncertain significance
MITF
(N8K)
Single nucleotide variant
(missense variant +1 more)
Tietz syndrome
+2 more
GUncertain significance
MITF
Single nucleotide variant
(intron variant)
Tietz syndrome
+2 more
GLikely benign
MITF
Single nucleotide variant
(intron variant)
Melanoma, cutaneous malignant, susceptibility to, 8
+2 more
GLikely benign
MITF
(E225D +9 more)
Single nucleotide variant
(missense variant)
Melanoma, cutaneous malignant, susceptibility to, 8
+2 more
GUncertain significance
MITF
Single nucleotide variant
(splice donor variant)
Melanoma, cutaneous malignant, susceptibility to, 8
+2 more
GLikely pathogenic
MITF
Single nucleotide variant
(intron variant)
Melanoma, cutaneous malignant, susceptibility to, 8
+2 more
GLikely benign
MITF
Single nucleotide variant
(intron variant)
Melanoma, cutaneous malignant, susceptibility to, 8
+2 more
GUncertain significance
MITF
(E260Q +9 more)
Single nucleotide variant
(missense variant)
Melanoma, cutaneous malignant, susceptibility to, 8
+2 more
GUncertain significance
MITF
Single nucleotide variant
(intron variant)
Melanoma, cutaneous malignant, susceptibility to, 8
+2 more
GLikely benign
MITF
(L254S +6 more)
Single nucleotide variant
(missense variant)
Melanoma, cutaneous malignant, susceptibility to, 8
+2 more
GUncertain significance
MITF
Single nucleotide variant
(intron variant)
Melanoma, cutaneous malignant, susceptibility to, 8
+2 more
GLikely benign
MITF
(S335C +9 more)
Single nucleotide variant
(missense variant)
Waardenburg syndrome type 2A
+2 more
GUncertain significance
MITF
Single nucleotide variant
(intron variant)
Waardenburg syndrome type 2A
+2 more
GLikely benign
MITF
Single nucleotide variant
(synonymous variant)
Waardenburg syndrome type 2A
+2 more
GLikely benign
MITF
(S307Y +9 more)
Single nucleotide variant
(missense variant)
Waardenburg syndrome type 2A
+2 more
GUncertain significance
MITF
Deletion
(intron variant)
Waardenburg syndrome type 2A
+2 more
GLikely benign
MITF
Single nucleotide variant
(synonymous variant)
Waardenburg syndrome type 2A
+2 more
GLikely benign
MITF
Single nucleotide variant
(intron variant)
MITF-related disorder
+3 more
GLikely benign
MITF
Single nucleotide variant
(intron variant)
Waardenburg syndrome type 2A
+2 more
GLikely benign
MITF
Single nucleotide variant
(synonymous variant)
Waardenburg syndrome type 2A
+2 more
GLikely benign
MITF
Single nucleotide variant
(intron variant)
Waardenburg syndrome type 2A
+2 more
GLikely benign
MITF
Single nucleotide variant
(intron variant)
Waardenburg syndrome type 2A
+2 more
GLikely benign
MITF
(C168R +6 more)
Single nucleotide variant
(missense variant)
Waardenburg syndrome type 2A
+2 more
GUncertain significance
MITF
(G191S +6 more)
Single nucleotide variant
(missense variant)
Waardenburg syndrome type 2A
+2 more
GUncertain significance
MITF
(R257C +9 more)
Single nucleotide variant
(missense variant)
Waardenburg syndrome type 2A
+2 more
GUncertain significance
MITF
Single nucleotide variant
(intron variant)
Waardenburg syndrome type 2A
+2 more
GLikely benign
MITF
(K254E +9 more)
Single nucleotide variant
(missense variant)
Tietz syndrome
+2 more
GUncertain significance
MITF
Single nucleotide variant
(intron variant)
Tietz syndrome
+2 more
GLikely benign
MITF
(E372K +9 more)
Single nucleotide variant
(missense variant)
Tietz syndrome
+2 more
GUncertain significance
MITF
Single nucleotide variant
(intron variant)
Tietz syndrome
+2 more
GLikely benign
MITF
Single nucleotide variant
(intron variant)
Tietz syndrome
+2 more
GUncertain significance
MITF
Single nucleotide variant
(intron variant)
Tietz syndrome
+2 more
GLikely benign
MITF
Single nucleotide variant
(intron variant)
Tietz syndrome
+2 more
GLikely benign
MITF
Single nucleotide variant
(intron variant)
Tietz syndrome
+2 more
GUncertain significance
MITF
Single nucleotide variant
(synonymous variant)
Tietz syndrome
+2 more
GLikely benign
MITF
Single nucleotide variant
(synonymous variant)
Tietz syndrome
+2 more
GLikely benign
MITF
(L382F +9 more)
Single nucleotide variant
(missense variant)
Tietz syndrome
+2 more
GUncertain significance
MITF
(P156L +5 more)
Single nucleotide variant
(missense variant +1 more)
Tietz syndrome
+2 more
GUncertain significance
MITF
Single nucleotide variant
(synonymous variant)
Tietz syndrome
+2 more
GLikely benign
MITF
(G242E +6 more)
Single nucleotide variant
(missense variant)
Tietz syndrome
+2 more
GUncertain significance
MITF
Single nucleotide variant
(synonymous variant +1 more)
MITF-related disorder
+3 more
GLikely benign
MITF
Single nucleotide variant
(synonymous variant)
Tietz syndrome
+2 more
GLikely benign
MITF
(I271V +6 more)
Single nucleotide variant
(missense variant)
Tietz syndrome
+2 more
GUncertain significance
MITF
(P231S +6 more)
Single nucleotide variant
(missense variant)
Tietz syndrome
+2 more
GUncertain significance
MITF
Single nucleotide variant
(synonymous variant)
Melanoma, cutaneous malignant, susceptibility to, 8
+2 more
GLikely benign
MITF
(M517I +9 more)
Single nucleotide variant
(missense variant)
Melanoma, cutaneous malignant, susceptibility to, 8
+2 more
GUncertain significance
MITF
Single nucleotide variant
(intron variant)
Melanoma, cutaneous malignant, susceptibility to, 8
+2 more
GLikely benign
MITF
Single nucleotide variant
(intron variant)
Melanoma, cutaneous malignant, susceptibility to, 8
+2 more
GLikely benign
MITF
(F399S +9 more)
Single nucleotide variant
(missense variant)
Melanoma, cutaneous malignant, susceptibility to, 8
+2 more
GUncertain significance
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