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Links from MedGen

Items: 1 to 100 of 865

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
HCFC1
Single nucleotide variant
(synonymous variant)
Methylmalonic acidemia with homocystinuria, type cblX
GLikely benign
HCFC1
Single nucleotide variant
(synonymous variant)
Methylmalonic acidemia with homocystinuria, type cblX
GLikely benign
HCFC1
Single nucleotide variant
(synonymous variant)
Methylmalonic acidemia with homocystinuria, type cblX
GLikely benign
HCFC1
Single nucleotide variant
(synonymous variant)
Methylmalonic acidemia with homocystinuria, type cblX
GLikely benign
HCFC1
Single nucleotide variant
(synonymous variant)
Methylmalonic acidemia with homocystinuria, type cblX
GLikely benign
HCFC1
Single nucleotide variant
(synonymous variant)
Methylmalonic acidemia with homocystinuria, type cblX
GLikely benign
HCFC1
Single nucleotide variant
(synonymous variant)
Methylmalonic acidemia with homocystinuria, type cblX
GBenign
HCFC1
Single nucleotide variant
(synonymous variant)
Methylmalonic acidemia with homocystinuria, type cblX
GLikely benign
HCFC1
Single nucleotide variant
(synonymous variant)
Methylmalonic acidemia with homocystinuria, type cblX
GBenign
HCFC1
Single nucleotide variant
(intron variant)
Methylmalonic acidemia with homocystinuria, type cblX
GLikely benign
HCFC1
Single nucleotide variant
(synonymous variant)
Methylmalonic acidemia with homocystinuria, type cblX
GBenign
HCFC1
Single nucleotide variant
(synonymous variant)
Methylmalonic acidemia with homocystinuria, type cblX
GLikely benign
HCFC1
Single nucleotide variant
(synonymous variant)
Methylmalonic acidemia with homocystinuria, type cblX
GBenign
HCFC1
Single nucleotide variant
(synonymous variant)
Methylmalonic acidemia with homocystinuria, type cblX
GBenign
HCFC1
(D1379N)
Single nucleotide variant
(missense variant)
Methylmalonic acidemia with homocystinuria, type cblX
GBenign
HCFC1
Single nucleotide variant
(synonymous variant)
Methylmalonic acidemia with homocystinuria, type cblX
GLikely benign
HCFC1
Single nucleotide variant
(synonymous variant)
Methylmalonic acidemia with homocystinuria, type cblX
GBenign
HCFC1
Single nucleotide variant
(synonymous variant)
Methylmalonic acidemia with homocystinuria, type cblX
GBenign
HCFC1
(T586A)
Single nucleotide variant
(missense variant)
Methylmalonic acidemia with homocystinuria, type cblX
GLikely benign
HCFC1
Single nucleotide variant
(synonymous variant +1 more)
Methylmalonic acidemia with homocystinuria, type cblX
GBenign
HCFC1
Single nucleotide variant
(synonymous variant)
Methylmalonic acidemia with homocystinuria, type cblX
GBenign
HCFC1
Single nucleotide variant
(synonymous variant)
Methylmalonic acidemia with homocystinuria, type cblX
GLikely benign
HCFC1
Single nucleotide variant
(synonymous variant)
Methylmalonic acidemia with homocystinuria, type cblX
GBenign
HCFC1
Single nucleotide variant
(synonymous variant)
Methylmalonic acidemia with homocystinuria, type cblX
GLikely benign
HCFC1
(S1382F)
Single nucleotide variant
(missense variant)
Methylmalonic acidemia with homocystinuria, type cblX
GLikely benign
HCFC1
Single nucleotide variant
(synonymous variant)
Methylmalonic acidemia with homocystinuria, type cblX
GLikely benign
HCFC1
Single nucleotide variant
(synonymous variant)
Methylmalonic acidemia with homocystinuria, type cblX
GLikely benign
HCFC1
(P763S)
Single nucleotide variant
(missense variant)
Methylmalonic acidemia with homocystinuria, type cblX
GUncertain significance
HCFC1
Single nucleotide variant
(intron variant)
Methylmalonic acidemia with homocystinuria, type cblX
GLikely benign
HCFC1
Single nucleotide variant
(synonymous variant)
Methylmalonic acidemia with homocystinuria, type cblX
GBenign
HCFC1
Single nucleotide variant
(synonymous variant)
Methylmalonic acidemia with homocystinuria, type cblX
GLikely benign
HCFC1
(A1380T)
Single nucleotide variant
(missense variant)
Methylmalonic acidemia with homocystinuria, type cblX
GLikely benign
HCFC1
Single nucleotide variant
(synonymous variant)
Methylmalonic acidemia with homocystinuria, type cblX
GBenign
HCFC1
Single nucleotide variant
(intron variant)
Methylmalonic acidemia with homocystinuria, type cblX
GLikely benign
HCFC1
Single nucleotide variant
(synonymous variant)
Methylmalonic acidemia with homocystinuria, type cblX
GLikely benign
HCFC1
Single nucleotide variant
(synonymous variant)
Methylmalonic acidemia with homocystinuria, type cblX
GLikely benign
HCFC1
Single nucleotide variant
(intron variant)
Methylmalonic acidemia with homocystinuria, type cblX
GLikely benign
HCFC1
Single nucleotide variant
(synonymous variant)
Methylmalonic acidemia with homocystinuria, type cblX
GBenign
HCFC1, LOC130068842
Single nucleotide variant
(synonymous variant)
Methylmalonic acidemia with homocystinuria, type cblX
GBenign
HCFC1, LOC130068842
Single nucleotide variant
(synonymous variant)
Methylmalonic acidemia with homocystinuria, type cblX
GBenign
HCFC1
Single nucleotide variant
(synonymous variant)
Methylmalonic acidemia with homocystinuria, type cblX
GLikely benign
HCFC1
Single nucleotide variant
(synonymous variant)
Methylmalonic acidemia with homocystinuria, type cblX
GLikely benign
HCFC1
Single nucleotide variant
(intron variant)
Methylmalonic acidemia with homocystinuria, type cblX
GLikely benign
HCFC1
Single nucleotide variant
(synonymous variant)
Methylmalonic acidemia with homocystinuria, type cblX
GBenign
HCFC1
Single nucleotide variant
(synonymous variant)
Methylmalonic acidemia with homocystinuria, type cblX
GLikely benign
HCFC1
Single nucleotide variant
(synonymous variant)
Methylmalonic acidemia with homocystinuria, type cblX
GBenign
HCFC1
Single nucleotide variant
(synonymous variant)
Methylmalonic acidemia with homocystinuria, type cblX
GLikely benign
HCFC1
Single nucleotide variant
(synonymous variant)
Methylmalonic acidemia with homocystinuria, type cblX
GBenign
HCFC1
Single nucleotide variant
(synonymous variant)
Methylmalonic acidemia with homocystinuria, type cblX
GBenign
HCFC1
Single nucleotide variant
(synonymous variant)
Methylmalonic acidemia with homocystinuria, type cblX
GBenign
HCFC1
Single nucleotide variant
(synonymous variant)
Methylmalonic acidemia with homocystinuria, type cblX
GLikely benign
HCFC1
Single nucleotide variant
(synonymous variant)
Methylmalonic acidemia with homocystinuria, type cblX
GBenign
HCFC1
(A1240G)
Single nucleotide variant
(missense variant)
Methylmalonic acidemia with homocystinuria, type cblX
GLikely benign
HCFC1
Single nucleotide variant
(synonymous variant)
Methylmalonic acidemia with homocystinuria, type cblX
GBenign
HCFC1
Single nucleotide variant
(synonymous variant)
Methylmalonic acidemia with homocystinuria, type cblX
GLikely benign
HCFC1
Single nucleotide variant
(synonymous variant)
Methylmalonic acidemia with homocystinuria, type cblX
GBenign
HCFC1
Single nucleotide variant
(intron variant)
Methylmalonic acidemia with homocystinuria, type cblX
GLikely benign
HCFC1
Single nucleotide variant
(synonymous variant)
Methylmalonic acidemia with homocystinuria, type cblX
GLikely benign
HCFC1
Single nucleotide variant
(synonymous variant)
Methylmalonic acidemia with homocystinuria, type cblX
GBenign
HCFC1
(T1381I)
Single nucleotide variant
(missense variant)
Methylmalonic acidemia with homocystinuria, type cblX
GBenign
HCFC1
Single nucleotide variant
(synonymous variant)
Methylmalonic acidemia with homocystinuria, type cblX
GLikely benign
HCFC1
Single nucleotide variant
(synonymous variant)
Methylmalonic acidemia with homocystinuria, type cblX
GLikely benign
HCFC1
Single nucleotide variant
(synonymous variant)
Methylmalonic acidemia with homocystinuria, type cblX
GLikely benign
HCFC1
Single nucleotide variant
(synonymous variant)
Methylmalonic acidemia with homocystinuria, type cblX
GLikely benign
HCFC1
Single nucleotide variant
(synonymous variant)
Methylmalonic acidemia with homocystinuria, type cblX
GLikely benign
HCFC1
Single nucleotide variant
(synonymous variant)
Methylmalonic acidemia with homocystinuria, type cblX
GLikely benign
HCFC1
Single nucleotide variant
(intron variant)
Methylmalonic acidemia with homocystinuria, type cblX
GLikely benign
HCFC1
Single nucleotide variant
(intron variant)
Methylmalonic acidemia with homocystinuria, type cblX
GLikely benign
HCFC1
(R1253L)
Single nucleotide variant
(missense variant)
Methylmalonic acidemia with homocystinuria, type cblX
GLikely benign
HCFC1
(T460A)
Single nucleotide variant
(missense variant)
Methylmalonic acidemia with homocystinuria, type cblX
GBenign
HCFC1
Single nucleotide variant
(synonymous variant)
Methylmalonic acidemia with homocystinuria, type cblX
GLikely benign
HCFC1
Single nucleotide variant
(synonymous variant)
Methylmalonic acidemia with homocystinuria, type cblX
GBenign
HCFC1
Single nucleotide variant
(intron variant)
Methylmalonic acidemia with homocystinuria, type cblX
GBenign
HCFC1
Single nucleotide variant
(synonymous variant)
Methylmalonic acidemia with homocystinuria, type cblX
GLikely benign
HCFC1
Single nucleotide variant
(synonymous variant)
Methylmalonic acidemia with homocystinuria, type cblX
GLikely benign
HCFC1
Single nucleotide variant
(synonymous variant)
Methylmalonic acidemia with homocystinuria, type cblX
GLikely benign
HCFC1
Single nucleotide variant
(synonymous variant)
Methylmalonic acidemia with homocystinuria, type cblX
GBenign
HCFC1
Single nucleotide variant
(synonymous variant)
Methylmalonic acidemia with homocystinuria, type cblX
GBenign
HCFC1
Single nucleotide variant
(intron variant)
Methylmalonic acidemia with homocystinuria, type cblX
GBenign
HCFC1
Single nucleotide variant
(synonymous variant)
Methylmalonic acidemia with homocystinuria, type cblX
GBenign
HCFC1
Single nucleotide variant
(synonymous variant)
Methylmalonic acidemia with homocystinuria, type cblX
GBenign
HCFC1
Single nucleotide variant
(synonymous variant)
Methylmalonic acidemia with homocystinuria, type cblX
GLikely benign
HCFC1
Single nucleotide variant
(synonymous variant)
Methylmalonic acidemia with homocystinuria, type cblX
GLikely benign
HCFC1
Single nucleotide variant
(synonymous variant)
Methylmalonic acidemia with homocystinuria, type cblX
GLikely benign
HCFC1
Single nucleotide variant
(synonymous variant)
Methylmalonic acidemia with homocystinuria, type cblX
GLikely benign
HCFC1
Single nucleotide variant
(intron variant)
Methylmalonic acidemia with homocystinuria, type cblX
GBenign
HCFC1
Single nucleotide variant
(synonymous variant)
Methylmalonic acidemia with homocystinuria, type cblX
GBenign
HCFC1
Single nucleotide variant
(synonymous variant)
Methylmalonic acidemia with homocystinuria, type cblX
GBenign
HCFC1
(T1114M)
Single nucleotide variant
(missense variant)
Methylmalonic acidemia with homocystinuria, type cblX
GLikely benign
HCFC1
Single nucleotide variant
(synonymous variant)
Methylmalonic acidemia with homocystinuria, type cblX
GBenign
HCFC1
Single nucleotide variant
(synonymous variant)
Methylmalonic acidemia with homocystinuria, type cblX
GBenign
HCFC1
Single nucleotide variant
(synonymous variant +1 more)
Methylmalonic acidemia with homocystinuria, type cblX
GLikely benign
HCFC1
Single nucleotide variant
(synonymous variant)
Methylmalonic acidemia with homocystinuria, type cblX
GBenign
HCFC1
Single nucleotide variant
(synonymous variant)
Methylmalonic acidemia with homocystinuria, type cblX
GLikely benign
HCFC1
Single nucleotide variant
(intron variant)
Methylmalonic acidemia with homocystinuria, type cblX
GLikely benign
HCFC1
(P1652L +1 more)
Single nucleotide variant
(missense variant)
Methylmalonic acidemia with homocystinuria, type cblX
GLikely benign
HCFC1
Single nucleotide variant
(intron variant)
Methylmalonic acidemia with homocystinuria, type cblX
GLikely benign
HCFC1
Single nucleotide variant
(intron variant)
Methylmalonic acidemia with homocystinuria, type cblX
GLikely benign
HCFC1
Single nucleotide variant
(synonymous variant)
Methylmalonic acidemia with homocystinuria, type cblX
GBenign
HCFC1
(S1076L)
Single nucleotide variant
(missense variant)
Methylmalonic acidemia with homocystinuria, type cblX
GLikely benign
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