U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Links from MedGen

Items: 1 to 100 of 196

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TARDBP
(D23N)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis type 10
GUncertain significance
TARDBP
(T32I)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis type 10
+1 more
GUncertain significance
TARDBP
Single nucleotide variant
(synonymous variant)
Amyotrophic lateral sclerosis type 10
+1 more
GLikely benign
TARDBP
(Y374*)
Single nucleotide variant
(nonsense)
Amyotrophic lateral sclerosis type 10
+1 more
GUncertain significance
TARDBP
Single nucleotide variant
(intron variant)
TARDBP-related frontotemporal dementia
+1 more
GLikely benign
TARDBP
(Q213H)
Single nucleotide variant
(missense variant)
TARDBP-related frontotemporal dementia
+1 more
GUncertain significance
TARDBP
(I383T)
Single nucleotide variant
(missense variant)
TARDBP-related frontotemporal dementia
+1 more
GUncertain significance
TARDBP
Single nucleotide variant
(synonymous variant)
TARDBP-related frontotemporal dementia
+1 more
GLikely benign
TARDBP
Single nucleotide variant
(intron variant)
TARDBP-related frontotemporal dementia
+1 more
GBenign
TARDBP
(D169F)
Indel
(missense variant)
TARDBP-related frontotemporal dementia
+1 more
GUncertain significance
TARDBP
(V57I)
Single nucleotide variant
(missense variant)
TARDBP-related frontotemporal dementia
+1 more
GUncertain significance
TARDBP
Single nucleotide variant
(intron variant)
TARDBP-related frontotemporal dementia
+1 more
GLikely benign
TARDBP
Single nucleotide variant
(synonymous variant)
Amyotrophic lateral sclerosis type 10
+1 more
GLikely benign
TARDBP
Single nucleotide variant
(synonymous variant)
TARDBP-related frontotemporal dementia
+1 more
GLikely benign
TARDBP
Single nucleotide variant
(synonymous variant)
TARDBP-related frontotemporal dementia
+1 more
GLikely benign
TARDBP
(K97R)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis type 10
+1 more
GUncertain significance
TARDBP
(A381T)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis type 10
+1 more
GUncertain significance
TARDBP
(N259S)
Single nucleotide variant
(missense variant)
TARDBP-related frontotemporal dementia
+1 more
GUncertain significance
TARDBP
Single nucleotide variant
(synonymous variant)
TARDBP-related frontotemporal dementia
+1 more
GLikely benign
TARDBP
Single nucleotide variant
(intron variant)
TARDBP-related frontotemporal dementia
+1 more
GLikely benign
TARDBP
Duplication
(intron variant)
TARDBP-related frontotemporal dementia
+1 more
GBenign
TARDBP
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+2 more
GLikely benign
TARDBP
(N378S)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis type 10
GLikely pathogenic
TARDBP
(S393L)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis type 10
+1 more
GUncertain significance
TARDBP
(S375G)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis type 10
+1 more
GLikely pathogenic
TARDBP
Single nucleotide variant
(synonymous variant)
Amyotrophic lateral sclerosis type 10
+1 more
GLikely benign
TARDBP
(S377T)
Single nucleotide variant
(missense variant)
TARDBP-related frontotemporal dementia
+2 more
GConflicting classifications of pathogenicity
TARDBP
Single nucleotide variant
(intron variant)
Amyotrophic lateral sclerosis type 10
+1 more
GLikely benign
TARDBP
Single nucleotide variant
(intron variant)
Amyotrophic lateral sclerosis type 10
+1 more
GLikely benign
TARDBP
Single nucleotide variant
(intron variant)
Amyotrophic lateral sclerosis type 10
+1 more
GLikely benign
TARDBP
Single nucleotide variant
(synonymous variant)
TARDBP-related frontotemporal dementia
+1 more
GLikely benign
TARDBP
Single nucleotide variant
(synonymous variant)
TARDBP-related frontotemporal dementia
+1 more
GLikely benign
TARDBP
Single nucleotide variant
(intron variant)
Amyotrophic lateral sclerosis type 10
+1 more
GLikely benign
TARDBP
Single nucleotide variant
(synonymous variant)
Amyotrophic lateral sclerosis type 10
+1 more
GLikely benign
TARDBP
(G386E)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis type 10
+1 more
GUncertain significance
TARDBP
Single nucleotide variant
(intron variant)
Amyotrophic lateral sclerosis type 10
+1 more
GLikely benign
TARDBP
(G314A)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis type 10
+1 more
GUncertain significance
TARDBP
(G196E)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis type 10
+1 more
GUncertain significance
TARDBP
Single nucleotide variant
(intron variant)
Amyotrophic lateral sclerosis type 10
+1 more
GLikely benign
TARDBP
Duplication
(inframe_insertion)
Amyotrophic lateral sclerosis type 10
+1 more
GUncertain significance
TARDBP
(N378*)
Duplication
(nonsense)
Amyotrophic lateral sclerosis type 10
+1 more
GUncertain significance
TARDBP
Single nucleotide variant
(synonymous variant)
Amyotrophic lateral sclerosis type 10
+1 more
GLikely benign
TARDBP
(N352D)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
TARDBP
Single nucleotide variant
(synonymous variant)
Amyotrophic lateral sclerosis type 10
+2 more
GLikely benign
TARDBP
(A326T)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis type 10
+1 more
GUncertain significance
TARDBP
(A315V)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis type 10
+1 more
GUncertain significance
TARDBP
Single nucleotide variant
(synonymous variant)
Amyotrophic lateral sclerosis type 10
+1 more
GLikely benign
TARDBP
Single nucleotide variant
(synonymous variant)
Amyotrophic lateral sclerosis type 10
+1 more
GLikely benign
TARDBP
(G351S)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis type 10
+1 more
GUncertain significance
TARDBP
(G295R)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
OPTN
(Q165*)
Single nucleotide variant
(nonsense)
Amyotrophic lateral sclerosis type 10
+3 more
GPathogenic/Likely pathogenic
TUBA4A
(N201K +1 more)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis type 10
GUncertain significance
TROAP-AS1, LOC124629354
+1 more
(H412P)
Single nucleotide variant
(non-coding transcript variant +1 more)
Amyotrophic lateral sclerosis type 10
GUncertain significance
ERBB4
(P1149R +1 more)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis type 10
GUncertain significance
TARDBP
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GBenign/Likely benign
TARDBP
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+2 more
GLikely benign
TARDBP
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+2 more
GLikely benign
TARDBP
(M405V)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis type 10
+2 more
GUncertain significance
TARDBP
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+2 more
GLikely benign
TARDBP
(G357D)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis type 10
+2 more
GUncertain significance
TARDBP
(F316L)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis type 10
+1 more
GUncertain significance
TARDBP
Single nucleotide variant
(intron variant)
TARDBP-related frontotemporal dementia
+1 more
GLikely benign
TARDBP
Single nucleotide variant
(intron variant)
Amyotrophic lateral sclerosis type 10
+1 more
GLikely benign
TARDBP
Single nucleotide variant
(synonymous variant)
Amyotrophic lateral sclerosis type 10
+1 more
GLikely benign
TARDBP
Single nucleotide variant
(intron variant)
Amyotrophic lateral sclerosis type 10
+1 more
GLikely benign
TARDBP
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+2 more
GLikely benign
TARDBP
Single nucleotide variant
(intron variant)
Amyotrophic lateral sclerosis type 10
+1 more
GLikely benign
TARDBP
Single nucleotide variant
(intron variant)
Amyotrophic lateral sclerosis type 10
+1 more
GLikely benign
TARDBP
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+2 more
GLikely benign
TARDBP
Single nucleotide variant
(intron variant)
TARDBP-related condition
+2 more
GLikely benign
TARDBP
Single nucleotide variant
(synonymous variant)
Amyotrophic lateral sclerosis type 10
+1 more
GLikely benign
TARDBP
Single nucleotide variant
(intron variant)
Amyotrophic lateral sclerosis type 10
+1 more
GBenign
TARDBP
Single nucleotide variant
(synonymous variant)
Amyotrophic lateral sclerosis type 10
+1 more
GLikely benign
TARDBP
(W385*)
Single nucleotide variant
(nonsense)
Amyotrophic lateral sclerosis type 10
+1 more
GUncertain significance
TARDBP
(S332N)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis type 10
+1 more
GUncertain significance
TARDBP
(G357R)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis type 10
+1 more
GUncertain significance
TARDBP
Single nucleotide variant
(synonymous variant)
Amyotrophic lateral sclerosis type 10
+1 more
GLikely benign
TARDBP
(M339V)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis type 10
+1 more
GUncertain significance
ERBB4
(I481V)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
TARDBP
(G396D)
Single nucleotide variant
(missense variant)
TARDBP-related frontotemporal dementia
+1 more
GUncertain significance
TARDBP
(N76S)
Single nucleotide variant
(missense variant)
TARDBP-related frontotemporal dementia
+1 more
GUncertain significance
TARDBP
(N390S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GConflicting classifications of pathogenicity
TARDBP
(Y374F)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis type 10
+2 more
GUncertain significance
TARDBP
Single nucleotide variant
(intron variant)
TARDBP-related frontotemporal dementia
+1 more
GBenign
TARDBP
Single nucleotide variant
(synonymous variant)
Amyotrophic lateral sclerosis type 10
+1 more
GLikely benign
TARDBP
Single nucleotide variant
(synonymous variant)
Amyotrophic lateral sclerosis type 10
+1 more
GLikely benign
TARDBP
Single nucleotide variant
(intron variant)
Amyotrophic lateral sclerosis type 10
+1 more
GLikely benign
TARDBP
(R208Q)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis type 10
GUncertain significance
TARDBP
(Q184K)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis type 10
+1 more
GUncertain significance
TARDBP
(N70D)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis type 10
+1 more
GUncertain significance
TARDBP
(N378D)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis type 10
+1 more
GLikely pathogenic
TARDBP
(A321D)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis type 10
+1 more
GLikely pathogenic
TARDBP
Single nucleotide variant
(synonymous variant)
Amyotrophic lateral sclerosis type 10
+3 more
GLikely benign
TARDBP
Single nucleotide variant
(3 prime UTR variant)
Amyotrophic lateral sclerosis type 10
GUncertain significance
TARDBP
Single nucleotide variant
(synonymous variant)
Amyotrophic lateral sclerosis type 10
GUncertain significance
TARDBP
Single nucleotide variant
(3 prime UTR variant)
Amyotrophic lateral sclerosis type 10
GUncertain significance
TARDBP
Single nucleotide variant
(3 prime UTR variant)
Amyotrophic lateral sclerosis type 10
GUncertain significance
TARDBP
Single nucleotide variant
(3 prime UTR variant)
Amyotrophic lateral sclerosis type 10
GUncertain significance
TARDBP
Single nucleotide variant
(3 prime UTR variant)
Amyotrophic lateral sclerosis type 10
GUncertain significance
TARDBP
Single nucleotide variant
(3 prime UTR variant)
Amyotrophic lateral sclerosis type 10
GUncertain significance
Format
Items per page
Sort by
Choose Destination