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Links from MedGen

Items: 1 to 100 of 533

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MAPT
Single nucleotide variant
(intron variant)
Frontotemporal dementia
GLikely benign
MAPT
Single nucleotide variant
(intron variant)
Frontotemporal dementia
GUncertain significance
MAPT
(E53D)
Single nucleotide variant
(missense variant +2 more)
Frontotemporal dementia
GUncertain significance
MAPT
(P204T +6 more)
Single nucleotide variant
(missense variant +1 more)
Frontotemporal dementia
GUncertain significance
MAPT
Single nucleotide variant
(synonymous variant)
Frontotemporal dementia
GLikely benign
MAPT
(R319H +9 more)
Single nucleotide variant
(missense variant +2 more)
Frontotemporal dementia
GUncertain significance
MAPT
Single nucleotide variant
(intron variant)
Frontotemporal dementia
GLikely benign
MAPT
(G215R +6 more)
Single nucleotide variant
(missense variant +1 more)
Frontotemporal dementia
GUncertain significance
PSEN1
(A295S +1 more)
Single nucleotide variant
(missense variant)
Alzheimer disease 3
+3 more
GUncertain significance
PSEN1
Single nucleotide variant
(intron variant)
Alzheimer disease 3
+3 more
GLikely benign
PSEN1
(F82L +1 more)
Single nucleotide variant
(missense variant)
Alzheimer disease 3
+3 more
GUncertain significance
PSEN1
(P299L +1 more)
Single nucleotide variant
(missense variant)
Pick disease
+3 more
GUncertain significance
PSEN1
(A160D +1 more)
Single nucleotide variant
(missense variant)
Pick disease
+3 more
GUncertain significance
PSEN1
Single nucleotide variant
(synonymous variant)
PSEN1-related disorder
+4 more
GLikely benign
PSEN1
Single nucleotide variant
(intron variant)
Pick disease
+3 more
GUncertain significance
PSEN1
Single nucleotide variant
(intron variant)
Alzheimer disease 3
+3 more
GLikely benign
PSEN1
(V194L +1 more)
Single nucleotide variant
(missense variant)
Alzheimer disease 3
+3 more
GUncertain significance
PSEN1
Deletion
(intron variant)
Alzheimer disease 3
+3 more
GLikely benign
PSEN1
Single nucleotide variant
(splice acceptor variant)
Acne inversa, familial, 3
+3 more
GPathogenic
PSEN1
(M84V +1 more)
Single nucleotide variant
(missense variant)
Acne inversa, familial, 3
+3 more
GPathogenic
PSEN1
Single nucleotide variant
(synonymous variant)
Acne inversa, familial, 3
+3 more
GLikely benign
PSEN1
(R104Q +1 more)
Single nucleotide variant
(missense variant)
Acne inversa, familial, 3
+3 more
GUncertain significance
PSEN1
Single nucleotide variant
(intron variant)
Acne inversa, familial, 3
+3 more
GLikely benign
PSEN1
(E359Q +1 more)
Single nucleotide variant
(missense variant)
Acne inversa, familial, 3
+3 more
GUncertain significance
PSEN1
(R348H +1 more)
Single nucleotide variant
(missense variant)
Pick disease
+3 more
GLikely benign
PSEN1
Single nucleotide variant
(synonymous variant)
Pick disease
+3 more
GLikely benign
PSEN1
(P432A +1 more)
Single nucleotide variant
(missense variant)
Alzheimer disease 3
+3 more
GConflicting classifications of pathogenicity
MAPT
(E342K +9 more)
Single nucleotide variant
(missense variant +2 more)
Frontotemporal dementia
GUncertain significance
MAPT
(G105R +4 more)
Single nucleotide variant
(missense variant +1 more)
Frontotemporal dementia
GUncertain significance
MAPT
(A492V +5 more)
Single nucleotide variant
(missense variant +1 more)
Frontotemporal dementia
GUncertain significance
MAPT
Single nucleotide variant
(intron variant)
Frontotemporal dementia
GLikely benign
MAPT
Single nucleotide variant
(synonymous variant)
Frontotemporal dementia
GBenign
MAPT
(P301R +5 more)
Single nucleotide variant
(missense variant +1 more)
Frontotemporal dementia
GUncertain significance
MAPT
Single nucleotide variant
(intron variant)
Frontotemporal dementia
GLikely benign
MAPT
Single nucleotide variant
(intron variant)
Frontotemporal dementia
GLikely benign
MAPT
(T117I +5 more)
Single nucleotide variant
(missense variant +1 more)
Frontotemporal dementia
GUncertain significance
MAPT
Deletion
(intron variant)
Frontotemporal dementia
GUncertain significance
MAPT
Single nucleotide variant
(intron variant)
Frontotemporal dementia
GLikely benign
MAPT
(T356A +9 more)
Single nucleotide variant
(missense variant +2 more)
Frontotemporal dementia
GUncertain significance
MAPT
Single nucleotide variant
(synonymous variant +1 more)
Frontotemporal dementia
GLikely benign
MAPT
(Q218H +9 more)
Single nucleotide variant
(missense variant +1 more)
Frontotemporal dementia
GUncertain significance
MAPT
Single nucleotide variant
(synonymous variant +1 more)
Frontotemporal dementia
GLikely benign
MAPT
Single nucleotide variant
(synonymous variant +2 more)
Frontotemporal dementia
GLikely benign
MAPT
(V565L +6 more)
Single nucleotide variant
(missense variant +1 more)
Frontotemporal dementia
GUncertain significance
MAPT
(G621S +5 more)
Single nucleotide variant
(missense variant +1 more)
Frontotemporal dementia
GUncertain significance
MAPT
Single nucleotide variant
(synonymous variant +2 more)
Frontotemporal dementia
GLikely benign
MAPT
Single nucleotide variant
(synonymous variant +2 more)
Frontotemporal dementia
GLikely benign
MAPT
Single nucleotide variant
(intron variant)
Frontotemporal dementia
GUncertain significance
MAPT
Single nucleotide variant
(synonymous variant)
Frontotemporal dementia
GLikely benign
MAPT
(E45V)
Single nucleotide variant
(missense variant +2 more)
Frontotemporal dementia
GUncertain significance
PSEN1
(A256G +1 more)
Single nucleotide variant
(missense variant)
not provided
+4 more
GConflicting classifications of pathogenicity
MAPT
(N321H +9 more)
Single nucleotide variant
(missense variant +2 more)
not provided
+1 more
GUncertain significance
PSEN1
(F382V +1 more)
Single nucleotide variant
(missense variant)
Alzheimer disease 3
+3 more
GUncertain significance
MAPT
(A261V +1 more)
Single nucleotide variant
(missense variant +1 more)
Frontotemporal dementia
GUncertain significance
PSEN1
(N28S +1 more)
Single nucleotide variant
(missense variant)
Alzheimer disease 3
+4 more
GConflicting classifications of pathogenicity
MAPT
(P275S +9 more)
Single nucleotide variant
(non-coding transcript variant +2 more)
Frontotemporal dementia
GPathogenic
MAPT, STH
Duplication
Frontotemporal dementia
GUncertain significance
MAPT
Single nucleotide variant
(synonymous variant +1 more)
Frontotemporal dementia
GLikely benign
PSEN1
(Y252N +1 more)
Single nucleotide variant
(missense variant)
Alzheimer disease 3
+3 more
GPathogenic
PSEN1
(R38G +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+4 more
GUncertain significance
MAPT
(R547W +6 more)
Single nucleotide variant
(missense variant)
Frontotemporal dementia
+2 more
GUncertain significance
PSEN1
(T277M +1 more)
Single nucleotide variant
(missense variant)
Alzheimer disease 3
+3 more
GUncertain significance
PSEN1
Single nucleotide variant
(synonymous variant)
Alzheimer disease 3
+4 more
GLikely benign
PSEN1
Single nucleotide variant
(intron variant)
Alzheimer disease 3
+3 more
GLikely benign
PSEN1
Single nucleotide variant
(synonymous variant)
PSEN1-related disorder
+4 more
GLikely benign
PSEN1
Single nucleotide variant
(synonymous variant)
Alzheimer disease 3
+3 more
GLikely benign
MAPT
(A2S)
Single nucleotide variant
(missense variant +1 more)
Frontotemporal dementia
GUncertain significance
MAPT
Single nucleotide variant
(intron variant)
Frontotemporal dementia
GUncertain significance
PSEN1
Single nucleotide variant
(synonymous variant)
Alzheimer disease 3
+3 more
GLikely benign
PSEN1
Single nucleotide variant
(synonymous variant)
Alzheimer disease 3
+3 more
GLikely benign
MAPT
(G461A +5 more)
Single nucleotide variant
(missense variant +1 more)
Frontotemporal dementia
GUncertain significance
PSEN1
Deletion
(intron variant)
Alzheimer disease 3
+3 more
GLikely benign
MAPT
(G357S +9 more)
Single nucleotide variant
(missense variant +2 more)
Frontotemporal dementia
GUncertain significance
MAPT
(G261S +6 more)
Single nucleotide variant
(missense variant +1 more)
Frontotemporal dementia
GUncertain significance
MAPT
Single nucleotide variant
(intron variant)
Frontotemporal dementia
GLikely benign
PSEN1
Single nucleotide variant
(synonymous variant)
Pick disease
+3 more
GUncertain significance
MAPT
(R163Q +6 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
MAPT
(R535L +6 more)
Single nucleotide variant
(missense variant)
Frontotemporal dementia
GUncertain significance
MAPT
(G143S +6 more)
Single nucleotide variant
(missense variant)
Frontotemporal dementia
GUncertain significance
PSEN1
(Y155F +1 more)
Single nucleotide variant
(missense variant)
Alzheimer disease 3
+3 more
GPathogenic
PSEN1
(I143V +1 more)
Single nucleotide variant
(missense variant)
Alzheimer disease 3
+3 more
GLikely pathogenic
PSEN1
(H131R +1 more)
Single nucleotide variant
(missense variant)
Alzheimer disease 3
+3 more
GUncertain significance
PSEN1
(N308K +1 more)
Single nucleotide variant
(missense variant)
Alzheimer disease 3
+3 more
GUncertain significance
MAPT
Single nucleotide variant
(synonymous variant)
Frontotemporal dementia
GLikely benign
PSEN1
(Y156H +1 more)
Single nucleotide variant
(missense variant)
Alzheimer disease 3
+3 more
GUncertain significance
PSEN1
Single nucleotide variant
(synonymous variant)
Alzheimer disease 3
+3 more
GBenign
PSEN1
(E184K +1 more)
Single nucleotide variant
(missense variant)
Alzheimer disease 3
+3 more
GUncertain significance
PSEN1
(S361F +1 more)
Single nucleotide variant
(missense variant)
Alzheimer disease 3
+3 more
GUncertain significance
MAPT
Single nucleotide variant
(intron variant)
Frontotemporal dementia
GLikely benign
PSEN1
(F114V +1 more)
Single nucleotide variant
(missense variant)
Alzheimer disease 3
+3 more
GUncertain significance
MAPT
Single nucleotide variant
(synonymous variant +1 more)
Frontotemporal dementia
GLikely benign
MAPT
Single nucleotide variant
(synonymous variant +2 more)
Frontotemporal dementia
GLikely benign
PSEN1
Single nucleotide variant
(intron variant)
Alzheimer disease 3
+3 more
GLikely benign
MAPT
(M11L)
Single nucleotide variant
(missense variant +1 more)
Frontotemporal dementia
GUncertain significance
MAPT
Single nucleotide variant
(intron variant)
Frontotemporal dementia
GLikely benign
PSEN1
Single nucleotide variant
(synonymous variant)
Alzheimer disease 3
+3 more
GLikely benign
PSEN1
(I223L +1 more)
Single nucleotide variant
(missense variant)
Alzheimer disease 3
+3 more
GUncertain significance
MAPT
Single nucleotide variant
(synonymous variant +1 more)
Frontotemporal dementia
+1 more
GLikely benign
MAPT
Single nucleotide variant
(synonymous variant +1 more)
Frontotemporal dementia
GLikely benign
MAPT
Single nucleotide variant
(synonymous variant +1 more)
Frontotemporal dementia
+1 more
GLikely benign
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