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Items: 7

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
BMP4
(S249L +2 more)
Single nucleotide variant
(missense variant)
Microphthalmia with brain and digit anomalies
+1 more
GUncertain significance
BMP4
(R225Q +2 more)
Single nucleotide variant
Microphthalmia with brain and digit anomalies
+3 more
GConflicting classifications of pathogenicity
BMP4
(R223Q +2 more)
Single nucleotide variant
(missense variant)
Microphthalmia with brain and digit anomalies
+2 more
GUncertain significance
BMP4
(R270H +2 more)
Single nucleotide variant
(missense variant)
Microphthalmia with brain and digit anomalies
+1 more
GUncertain significance
BMP4
Single nucleotide variant
(synonymous variant)
Orofacial cleft 11
+2 more
GLikely benign
BMP4
(K75R +2 more)
Single nucleotide variant
(missense variant)
Syndromic Microphthalmia, Dominant
+4 more
GUncertain significance
BMP4
Single nucleotide variant
(synonymous variant +1 more)
Microphthalmia with brain and digit anomalies
+1 more
GLikely benign
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