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Links from MedGen

Items: 28

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC126806253, STAMBP
(R38H)
Single nucleotide variant
(missense variant +3 more)
Microcephaly-capillary malformation syndrome
GUncertain significance
STAMBP
Single nucleotide variant
(splice acceptor variant)
Microcephaly-capillary malformation syndrome
GLikely pathogenic
STAMBP
(H121L +1 more)
Single nucleotide variant
(missense variant +1 more)
Microcephaly-capillary malformation syndrome
GUncertain significance
STAMBP
Single nucleotide variant
(synonymous variant +1 more)
Microcephaly-capillary malformation syndrome
GUncertain significance
STAMBP
(T140S +1 more)
Single nucleotide variant
(missense variant +1 more)
Microcephaly-capillary malformation syndrome
GUncertain significance
LOC126806253, STAMBP
(D3fs)
Duplication
(frameshift variant +3 more)
Microcephaly-capillary malformation syndrome
GPathogenic
LOC126806253, STAMBP
(R38G)
Single nucleotide variant
(missense variant +3 more)
Microcephaly-capillary malformation syndrome
+1 more
GUncertain significance
STAMBP
(C282fs +1 more)
Deletion
(frameshift variant +1 more)
Microcephaly-capillary malformation syndrome
GPathogenic
STAMBP
(Q24E +1 more)
Single nucleotide variant
(missense variant +1 more)
Microcephaly-capillary malformation syndrome
GUncertain significance
STAMBP
(K73R)
Single nucleotide variant
(missense variant +2 more)
not provided
+1 more
GConflicting classifications of pathogenicity
STAMBP
(E316K +1 more)
Single nucleotide variant
(missense variant +1 more)
Microcephaly-capillary malformation syndrome
GUncertain significance
LOC126806253, STAMBP
Single nucleotide variant
(synonymous variant +3 more)
Microcephaly-capillary malformation syndrome
+2 more
GLikely benign
STAMBP
(S236F +1 more)
Single nucleotide variant
(missense variant +1 more)
Microcephaly-capillary malformation syndrome
GPathogenic
STAMBP
(Q217* +1 more)
Single nucleotide variant
(nonsense +1 more)
Microcephaly-capillary malformation syndrome
GPathogenic
STAMBP
(R255H +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity
STAMBP
Single nucleotide variant
(intron variant)
Microcephaly-capillary malformation syndrome
GLikely pathogenic
STAMBP
Single nucleotide variant
(synonymous variant +1 more)
Microcephaly-capillary malformation syndrome
+1 more
GBenign
STAMBP
(E167K +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
LOC126806253, STAMBP
Single nucleotide variant
(synonymous variant +3 more)
Microcephaly-capillary malformation syndrome
+1 more
GBenign
STAMBP
(I420del +1 more)
Deletion
(inframe_deletion +2 more)
not provided
+1 more
GUncertain significance
STAMBP
Single nucleotide variant
(synonymous variant +2 more)
Microcephaly-capillary malformation syndrome
GUncertain significance
STAMBP
(I3fs +1 more)
Deletion
(frameshift variant +1 more)
Microcephaly-capillary malformation syndrome
GPathogenic
STAMBP
(F100Y)
Single nucleotide variant
(missense variant +2 more)
Microcephaly-capillary malformation syndrome
GPathogenic
STAMBP
(R424* +1 more)
Single nucleotide variant
(nonsense +2 more)
not provided
GPathogenic/Likely pathogenic
STAMBP
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GLikely pathogenic
LOC126806253, STAMBP
(R38C)
Single nucleotide variant
(missense variant +3 more)
Microcephaly-capillary malformation syndrome
+1 more
GPathogenic/Likely pathogenic
STAMBP
(R178* +1 more)
Single nucleotide variant
(nonsense +1 more)
not provided
GPathogenic/Likely pathogenic
LOC126806253, STAMBP
(E42G)
Single nucleotide variant
(missense variant +3 more)
Microcephaly-capillary malformation syndrome
GLikely pathogenic
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