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Links from MedGen

Items: 1 to 100 of 337

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MITF
Deletion
Melanoma, cutaneous malignant, susceptibility to, 8
+2 more
GLikely pathogenic
MITF
Duplication
Melanoma, cutaneous malignant, susceptibility to, 8
+2 more
GUncertain significance
MITF
Deletion
Melanoma, cutaneous malignant, susceptibility to, 8
+2 more
GPathogenic
MITF
Deletion
Melanoma, cutaneous malignant, susceptibility to, 8
+2 more
GPathogenic
MITF
Deletion
Melanoma, cutaneous malignant, susceptibility to, 8
+2 more
GPathogenic
MITF
(E297Q +9 more)
Single nucleotide variant
(missense variant)
MITF-related condition
+3 more
GUncertain significance
MITF
(P220fs +6 more)
Deletion
(frameshift variant)
Tietz syndrome
+2 more
GPathogenic
LOC107988030, MITF
(M1I)
Single nucleotide variant
(missense variant +2 more)
Tietz syndrome
+2 more
GUncertain significance
MITF
(P367S +9 more)
Single nucleotide variant
(missense variant)
Tietz syndrome
+2 more
GUncertain significance
MITF
(N136K +5 more)
Single nucleotide variant
(missense variant +1 more)
Waardenburg syndrome type 2A
+3 more
GUncertain significance
MITF
Single nucleotide variant
(synonymous variant)
Tietz syndrome
+2 more
GLikely benign
MITF
(D271G +9 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
MITF
Single nucleotide variant
(intron variant)
Tietz syndrome
+2 more
GLikely benign
MITF
Single nucleotide variant
(synonymous variant)
Tietz syndrome
+3 more
GUncertain significance
MITF
Single nucleotide variant
(synonymous variant)
Tietz syndrome
+2 more
GLikely benign
MITF
(P368S +9 more)
Single nucleotide variant
(missense variant)
Melanoma, cutaneous malignant, susceptibility to, 8
+3 more
GUncertain significance
MITF
Single nucleotide variant
(intron variant)
Tietz syndrome
+2 more
GLikely benign
MITF
(H270D +9 more)
Single nucleotide variant
(missense variant)
Tietz syndrome
+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
(Q132L +5 more)
Single nucleotide variant
(missense variant)
Tietz syndrome
+2 more
GUncertain significance
MITF
Single nucleotide variant
(synonymous variant)
Waardenburg syndrome type 2A
+2 more
GLikely benign
MITF
Single nucleotide variant
(intron variant)
Tietz syndrome
+2 more
GLikely benign
MITF
Single nucleotide variant
(synonymous variant)
Waardenburg syndrome type 2A
+2 more
GUncertain significance
MITF
(T282A +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
(Q116E +5 more)
Single nucleotide variant
(missense variant)
Melanoma, cutaneous malignant, susceptibility to, 8
+2 more
GUncertain significance
MITF
(P204T +6 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
(N437D +9 more)
Single nucleotide variant
(missense variant)
Melanoma, cutaneous malignant, susceptibility to, 8
+3 more
GUncertain significance
MITF
(P336S +9 more)
Single nucleotide variant
(missense variant)
Tietz syndrome
+2 more
GUncertain significance
MITF
Single nucleotide variant
(intron variant)
Melanoma, cutaneous malignant, susceptibility to, 8
+2 more
GLikely benign
MITF
(I421T +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
GUncertain significance
MITF
Single nucleotide variant
(intron variant)
Tietz syndrome
+2 more
GUncertain significance
MITF
(P107S +5 more)
Single nucleotide variant
(missense variant +1 more)
Tietz syndrome
+2 more
GUncertain significance
MITF
(V258I +9 more)
Single nucleotide variant
(missense variant)
Tietz syndrome
+2 more
GUncertain significance
MITF
(L247P +6 more)
Single nucleotide variant
(missense variant)
Waardenburg syndrome type 2A
+2 more
GUncertain significance
MITF
(Q356H +9 more)
Single nucleotide variant
(missense variant)
Waardenburg syndrome type 2A
+2 more
GUncertain significance
MITF
(T183I +9 more)
Single nucleotide variant
(missense variant)
Melanoma, cutaneous malignant, susceptibility to, 8
+2 more
GUncertain significance
MITF
(R264K +9 more)
Single nucleotide variant
(missense variant)
Tietz syndrome
+3 more
GUncertain significance
MITF
Single nucleotide variant
(intron variant)
Melanoma, cutaneous malignant, susceptibility to, 8
+2 more
GLikely benign
MITF
(A230V +9 more)
Single nucleotide variant
(missense variant)
Tietz syndrome
+2 more
GUncertain significance
MITF
(R456K +9 more)
Single nucleotide variant
(missense variant)
Tietz syndrome
+2 more
GUncertain significance
MITF
(S151L +6 more)
Single nucleotide variant
(missense variant)
Tietz syndrome
+2 more
GUncertain significance
MITF
(L267F +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
(S332F +9 more)
Single nucleotide variant
(missense variant)
Melanoma, cutaneous malignant, susceptibility to, 8
+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
(Y10C)
Single nucleotide variant
(missense variant +1 more)
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
(G148V +5 more)
Single nucleotide variant
(missense variant +1 more)
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
(P221A +6 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
MITF
Single nucleotide variant
(intron variant)
Waardenburg syndrome type 2A
+2 more
GLikely benign
MITF
Single nucleotide variant
(intron variant)
Tietz syndrome
+2 more
GLikely benign
MITF
Single nucleotide variant
(synonymous variant +1 more)
Tietz syndrome
+2 more
GLikely benign
MITF
Single nucleotide variant
(synonymous variant)
Tietz syndrome
+2 more
GLikely benign
MITF
Single nucleotide variant
(synonymous variant)
Waardenburg syndrome type 2A
+2 more
GLikely benign
MITF
Deletion
(splice donor variant)
Tietz syndrome
+2 more
GLikely pathogenic
MITF
Single nucleotide variant
(synonymous variant)
Tietz syndrome
+2 more
GLikely benign
MITF
(S216fs +6 more)
Microsatellite
(frameshift variant)
Tietz syndrome
+2 more
GPathogenic
MITF
Deletion
(intron variant)
Melanoma, cutaneous malignant, susceptibility to, 8
+2 more
GUncertain significance
MITF
Single nucleotide variant
(synonymous variant)
Tietz syndrome
+2 more
GLikely benign
MITF
Single nucleotide variant
(intron variant +1 more)
Melanoma, cutaneous malignant, susceptibility to, 8
+2 more
GUncertain significance
MITF
(L203* +6 more)
Single nucleotide variant
(nonsense)
Waardenburg syndrome type 2A
+2 more
GPathogenic
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
(L412V +9 more)
Single nucleotide variant
(missense variant)
Melanoma, cutaneous malignant, susceptibility to, 8
+2 more
GUncertain significance
MITF
Single nucleotide variant
(intron variant)
Tietz syndrome
+2 more
GLikely benign
MITF
(Y7H)
Single nucleotide variant
(missense variant +1 more)
Tietz syndrome
+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)
Waardenburg syndrome type 2A
+2 more
GLikely benign
MITF
(F190S +2 more)
Single nucleotide variant
(missense variant +1 more)
Melanoma, cutaneous malignant, susceptibility to, 8
+2 more
GUncertain significance
MITF
(I224V +6 more)
Single nucleotide variant
(missense variant)
Tietz syndrome
+2 more
GUncertain significance
MITF
Single nucleotide variant
(synonymous variant)
Waardenburg syndrome type 2A
+2 more
GLikely benign
MITF
Single nucleotide variant
(synonymous variant)
Waardenburg syndrome type 2A
+2 more
GLikely benign
MITF
(S179R +5 more)
Single nucleotide variant
(missense variant +1 more)
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)
Waardenburg syndrome type 2A
+2 more
GLikely benign
MITF
Single nucleotide variant
(intron variant)
Tietz syndrome
+2 more
GLikely benign
MITF
(K422N +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
(K134N +5 more)
Single nucleotide variant
(missense variant +1 more)
MITF-related condition
+3 more
GUncertain significance
MITF
Single nucleotide variant
(synonymous variant)
Waardenburg syndrome type 2A
+2 more
GLikely benign
MITF
Single nucleotide variant
(synonymous variant)
Waardenburg syndrome type 2A
+2 more
GLikely benign
MITF
(M373V +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
GBenign
MITF
(E497K +9 more)
Single nucleotide variant
(missense variant)
Tietz syndrome
+2 more
GUncertain significance
MITF
(G365E +9 more)
Single nucleotide variant
(missense variant)
Tietz syndrome
+3 more
GUncertain significance
MITF
(N261K +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
Microsatellite
(intron variant)
Tietz syndrome
+2 more
GLikely benign
MITF
(D150N +5 more)
Single nucleotide variant
(missense variant +1 more)
Tietz syndrome
+2 more
GUncertain significance
MITF
(V493L +9 more)
Single nucleotide variant
(missense variant)
Tietz syndrome
+3 more
GUncertain significance
MITF
(D229E +6 more)
Single nucleotide variant
(missense variant)
Melanoma, cutaneous malignant, susceptibility to, 8
+3 more
GUncertain significance
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