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Links from MedGen

Items: 1 to 100 of 233

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC126860775, PRDM12
(P96S)
Single nucleotide variant
(missense variant)
Congenital insensitivity to pain-hypohidrosis syndrome
GUncertain significance
PRDM12
Single nucleotide variant
(synonymous variant)
Congenital insensitivity to pain-hypohidrosis syndrome
GLikely benign
LOC130002813, PRDM12
Single nucleotide variant
(intron variant)
Congenital insensitivity to pain-hypohidrosis syndrome
GLikely benign
LOC126860775, PRDM12
Single nucleotide variant
(intron variant)
Congenital insensitivity to pain-hypohidrosis syndrome
GLikely benign
PRDM12
Single nucleotide variant
(synonymous variant)
Congenital insensitivity to pain-hypohidrosis syndrome
GLikely benign
PRDM12
Single nucleotide variant
(intron variant)
Congenital insensitivity to pain-hypohidrosis syndrome
GLikely benign
PRDM12
Single nucleotide variant
(synonymous variant)
Congenital insensitivity to pain-hypohidrosis syndrome
GLikely benign
LOC130002813, PRDM12
Single nucleotide variant
(synonymous variant)
Congenital insensitivity to pain-hypohidrosis syndrome
GLikely benign
LOC130002813, PRDM12
Single nucleotide variant
(synonymous variant)
Congenital insensitivity to pain-hypohidrosis syndrome
GLikely benign
LOC130002813, PRDM12
Microsatellite
(intron variant)
Congenital insensitivity to pain-hypohidrosis syndrome
GLikely benign
LOC126860775, PRDM12
Single nucleotide variant
(synonymous variant)
Congenital insensitivity to pain-hypohidrosis syndrome
GLikely benign
LOC126860775, PRDM12
Single nucleotide variant
(intron variant)
Congenital insensitivity to pain-hypohidrosis syndrome
GLikely benign
LOC130002813, PRDM12
Single nucleotide variant
(intron variant)
Congenital insensitivity to pain-hypohidrosis syndrome
GLikely benign
LOC126860775, PRDM12
Single nucleotide variant
(intron variant)
Congenital insensitivity to pain-hypohidrosis syndrome
GLikely benign
PRDM12
Single nucleotide variant
(synonymous variant)
Congenital insensitivity to pain-hypohidrosis syndrome
GLikely benign
PRDM12
Single nucleotide variant
(synonymous variant)
Congenital insensitivity to pain-hypohidrosis syndrome
GLikely benign
PRDM12
Single nucleotide variant
(intron variant)
Congenital insensitivity to pain-hypohidrosis syndrome
GLikely benign
PRDM12
(A329fs)
Duplication
(frameshift variant)
Congenital insensitivity to pain-hypohidrosis syndrome
GUncertain significance
PRDM12
Single nucleotide variant
(synonymous variant)
Congenital insensitivity to pain-hypohidrosis syndrome
GLikely benign
LOC130002813, PRDM12
Single nucleotide variant
(intron variant)
Congenital insensitivity to pain-hypohidrosis syndrome
GLikely benign
PRDM12
Single nucleotide variant
(intron variant)
Congenital insensitivity to pain-hypohidrosis syndrome
GLikely benign
PRDM12
Single nucleotide variant
(synonymous variant)
Congenital insensitivity to pain-hypohidrosis syndrome
GLikely benign
PRDM12
Single nucleotide variant
(synonymous variant)
Congenital insensitivity to pain-hypohidrosis syndrome
GLikely benign
PRDM12
Single nucleotide variant
(synonymous variant)
Congenital insensitivity to pain-hypohidrosis syndrome
GLikely benign
LOC126860775, PRDM12
Single nucleotide variant
(synonymous variant)
Congenital insensitivity to pain-hypohidrosis syndrome
GLikely benign
LOC126860775, PRDM12
Single nucleotide variant
(intron variant)
Congenital insensitivity to pain-hypohidrosis syndrome
GLikely benign
LOC126860775, PRDM12
Single nucleotide variant
(intron variant)
Congenital insensitivity to pain-hypohidrosis syndrome
GLikely benign
PRDM12
Duplication
(intron variant)
Congenital insensitivity to pain-hypohidrosis syndrome
GBenign
PRDM12
Single nucleotide variant
(intron variant)
Congenital insensitivity to pain-hypohidrosis syndrome
GLikely benign
PRDM12
Single nucleotide variant
(synonymous variant)
Congenital insensitivity to pain-hypohidrosis syndrome
GLikely benign
PRDM12
Single nucleotide variant
(synonymous variant)
Congenital insensitivity to pain-hypohidrosis syndrome
GLikely benign
LOC126860775, PRDM12
Single nucleotide variant
(synonymous variant)
Congenital insensitivity to pain-hypohidrosis syndrome
GLikely benign
LOC130002813, PRDM12
Single nucleotide variant
(synonymous variant)
Congenital insensitivity to pain-hypohidrosis syndrome
GLikely benign
PRDM12
Single nucleotide variant
(synonymous variant)
Congenital insensitivity to pain-hypohidrosis syndrome
GLikely benign
PRDM12
(P194fs)
Duplication
(frameshift variant)
Congenital insensitivity to pain-hypohidrosis syndrome
GPathogenic
PRDM12
Single nucleotide variant
(synonymous variant)
Congenital insensitivity to pain-hypohidrosis syndrome
GLikely benign
PRDM12
Single nucleotide variant
(intron variant)
Congenital insensitivity to pain-hypohidrosis syndrome
GLikely benign
PRDM12
(A359V)
Single nucleotide variant
(missense variant)
Congenital insensitivity to pain-hypohidrosis syndrome
GUncertain significance
PRDM12
(N43S)
Single nucleotide variant
(missense variant)
Congenital insensitivity to pain-hypohidrosis syndrome
GUncertain significance
PRDM12
Single nucleotide variant
(synonymous variant)
Congenital insensitivity to pain-hypohidrosis syndrome
GLikely benign
PRDM12
(L330P)
Single nucleotide variant
(missense variant)
Congenital insensitivity to pain-hypohidrosis syndrome
GUncertain significance
PRDM12
(A336V)
Single nucleotide variant
(missense variant)
Congenital insensitivity to pain-hypohidrosis syndrome
GUncertain significance
PRDM12
(L11M)
Single nucleotide variant
(missense variant)
Congenital insensitivity to pain-hypohidrosis syndrome
GUncertain significance
PRDM12
Single nucleotide variant
(intron variant)
Congenital insensitivity to pain-hypohidrosis syndrome
GLikely benign
PRDM12
Single nucleotide variant
(intron variant)
Congenital insensitivity to pain-hypohidrosis syndrome
GLikely benign
PRDM12
Single nucleotide variant
(synonymous variant)
Congenital insensitivity to pain-hypohidrosis syndrome
GLikely benign
PRDM12
(S334L)
Single nucleotide variant
(missense variant)
Congenital insensitivity to pain-hypohidrosis syndrome
GUncertain significance
PRDM12
Single nucleotide variant
(synonymous variant)
Congenital insensitivity to pain-hypohidrosis syndrome
GLikely benign
PRDM12
Single nucleotide variant
(synonymous variant)
Congenital insensitivity to pain-hypohidrosis syndrome
GLikely benign
LOC126860775, PRDM12
Single nucleotide variant
(intron variant)
Congenital insensitivity to pain-hypohidrosis syndrome
GLikely benign
PRDM12
Single nucleotide variant
(synonymous variant)
Congenital insensitivity to pain-hypohidrosis syndrome
GLikely benign
PRDM12
Insertion
(inframe_insertion)
Congenital insensitivity to pain-hypohidrosis syndrome
GUncertain significance
PRDM12
(D221A)
Single nucleotide variant
(missense variant)
Congenital insensitivity to pain-hypohidrosis syndrome
GUncertain significance
LOC126860775, PRDM12
(A123T)
Single nucleotide variant
(missense variant)
Congenital insensitivity to pain-hypohidrosis syndrome
GUncertain significance
PRDM12
Single nucleotide variant
(synonymous variant)
Congenital insensitivity to pain-hypohidrosis syndrome
GLikely benign
PRDM12, LOC130002813
Single nucleotide variant
(intron variant)
Congenital insensitivity to pain-hypohidrosis syndrome
GLikely benign
LOC126860775, PRDM12
(C130R)
Single nucleotide variant
(missense variant)
Congenital insensitivity to pain-hypohidrosis syndrome
GUncertain significance
LOC126860775, PRDM12
(I102fs)
Deletion
(frameshift variant)
Congenital insensitivity to pain-hypohidrosis syndrome
GPathogenic
PRDM12
Single nucleotide variant
(intron variant)
Congenital insensitivity to pain-hypohidrosis syndrome
GLikely benign
LOC130002813, PRDM12
Single nucleotide variant
(synonymous variant)
Congenital insensitivity to pain-hypohidrosis syndrome
GLikely benign
PRDM12
Single nucleotide variant
(synonymous variant)
Congenital insensitivity to pain-hypohidrosis syndrome
GLikely benign
PRDM12
Single nucleotide variant
(synonymous variant)
Congenital insensitivity to pain-hypohidrosis syndrome
GLikely benign
PRDM12
(R147C)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
PRDM12
(H265P)
Single nucleotide variant
(missense variant)
Congenital insensitivity to pain-hypohidrosis syndrome
GUncertain significance
PRDM12
Microsatellite
(splice donor variant)
Congenital insensitivity to pain-hypohidrosis syndrome
GLikely benign
PRDM12
Single nucleotide variant
(synonymous variant)
Congenital insensitivity to pain-hypohidrosis syndrome
GLikely benign
PRDM12
Single nucleotide variant
(synonymous variant)
Congenital insensitivity to pain-hypohidrosis syndrome
GLikely benign
PRDM12
(G144A)
Single nucleotide variant
(missense variant)
Congenital insensitivity to pain-hypohidrosis syndrome
GUncertain significance
PRDM12
Single nucleotide variant
(synonymous variant)
Congenital insensitivity to pain-hypohidrosis syndrome
GLikely benign
PRDM12
Duplication
(inframe_insertion)
Congenital insensitivity to pain-hypohidrosis syndrome
GUncertain significance
PRDM12
(L6F)
Single nucleotide variant
(missense variant)
Congenital insensitivity to pain-hypohidrosis syndrome
GUncertain significance
LOC126860775, PRDM12
(N134H)
Single nucleotide variant
(missense variant)
Congenital insensitivity to pain-hypohidrosis syndrome
GUncertain significance
LOC130002813, PRDM12
Single nucleotide variant
(synonymous variant)
Congenital insensitivity to pain-hypohidrosis syndrome
GLikely benign
LOC130002813, PRDM12
(P232S)
Single nucleotide variant
(missense variant)
Congenital insensitivity to pain-hypohidrosis syndrome
GUncertain significance
PRDM12
Single nucleotide variant
(intron variant)
Congenital insensitivity to pain-hypohidrosis syndrome
GLikely benign
LOC126860775, PRDM12
(A123V)
Single nucleotide variant
(missense variant)
Congenital insensitivity to pain-hypohidrosis syndrome
GUncertain significance
PRDM12
Single nucleotide variant
(synonymous variant)
Congenital insensitivity to pain-hypohidrosis syndrome
GLikely benign
PRDM12
Single nucleotide variant
(intron variant)
Congenital insensitivity to pain-hypohidrosis syndrome
GLikely benign
PRDM12
(R297L)
Single nucleotide variant
(missense variant)
Congenital insensitivity to pain-hypohidrosis syndrome
GUncertain significance
PRDM12
(H341Q)
Single nucleotide variant
(missense variant)
Congenital insensitivity to pain-hypohidrosis syndrome
GUncertain significance
PRDM12
Microsatellite
(inframe_insertion)
Congenital insensitivity to pain-hypohidrosis syndrome
GUncertain significance
LOC130002813, PRDM12
Single nucleotide variant
(intron variant)
Congenital insensitivity to pain-hypohidrosis syndrome
GLikely benign
PRDM12
(P338H)
Single nucleotide variant
(missense variant)
Congenital insensitivity to pain-hypohidrosis syndrome
GUncertain significance
PRDM12
(G295D)
Single nucleotide variant
(missense variant)
Congenital insensitivity to pain-hypohidrosis syndrome
GUncertain significance
PRDM12
(S54N)
Single nucleotide variant
(missense variant)
Congenital insensitivity to pain-hypohidrosis syndrome
GUncertain significance
PRDM12
(L362Q)
Single nucleotide variant
(missense variant)
Congenital insensitivity to pain-hypohidrosis syndrome
GUncertain significance
LOC130002813, PRDM12
Single nucleotide variant
(synonymous variant)
Congenital insensitivity to pain-hypohidrosis syndrome
GLikely benign
PRDM12
(S159N)
Single nucleotide variant
(missense variant)
Congenital insensitivity to pain-hypohidrosis syndrome
GUncertain significance
PRDM12
Single nucleotide variant
(synonymous variant)
Congenital insensitivity to pain-hypohidrosis syndrome
GLikely benign
PRDM12
Single nucleotide variant
(intron variant)
Congenital insensitivity to pain-hypohidrosis syndrome
GLikely benign
PRDM12
Single nucleotide variant
(synonymous variant)
Congenital insensitivity to pain-hypohidrosis syndrome
GLikely benign
LOC126860775, PRDM12
Single nucleotide variant
(synonymous variant)
Congenital insensitivity to pain-hypohidrosis syndrome
GLikely benign
PRDM12
Single nucleotide variant
(intron variant)
Congenital insensitivity to pain-hypohidrosis syndrome
GLikely benign
PRDM12
(P345H)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
LOC130002813, PRDM12
(A240G)
Single nucleotide variant
(missense variant)
Congenital insensitivity to pain-hypohidrosis syndrome
+1 more
GUncertain significance
PRDM12
(S183G)
Single nucleotide variant
(missense variant)
Congenital insensitivity to pain-hypohidrosis syndrome
+1 more
GUncertain significance
PRDM12
(G181S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
PRDM12
(H289R)
Single nucleotide variant
(missense variant)
Congenital insensitivity to pain-hypohidrosis syndrome
GUncertain significance
PRDM12
Single nucleotide variant
(intron variant)
Congenital insensitivity to pain-hypohidrosis syndrome
GLikely benign
LOC130002813, PRDM12
Single nucleotide variant
(synonymous variant)
Congenital insensitivity to pain-hypohidrosis syndrome
GLikely benign
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