ClinVar for MedGen (Select 811762) - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1686307	NM_001130145.3(YAP1):c.257T>C (p.Met86Thr)	YAP1 (M86T)	Single nucleotide variant (missense variant)	Uveal coloboma-cleft lip and palate-intellectual disability	GPathogenic
Select item 1248424	NM_001130145.3(YAP1):c.1276+42G>C	YAP1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1033314	NM_001130145.3(YAP1):c.770C>T (p.Ser257Phe)	YAP1 (S257F +1 more)	Single nucleotide variant (missense variant +1 more)	Uveal coloboma-cleft lip and palate-intellectual disability	GUncertain significance
Select item 988078	NM_001130145.3(YAP1):c.761A>G (p.Lys254Arg)	YAP1 (K254R +1 more)	Single nucleotide variant (missense variant +1 more)	Uveal coloboma-cleft lip and palate-intellectual disability	GUncertain significance
Select item 982760	NM_001130145.3(YAP1):c.1196_1199del (p.Asp399fs)	YAP1 (D221fs +8 more)	Microsatellite (frameshift variant)	Uveal coloboma-cleft lip and palate-intellectual disability	GLikely pathogenic
Select item 931285	NM_001130145.3(YAP1):c.163G>T (p.Val55Leu)	YAP1 (V55L)	Single nucleotide variant (missense variant)	Uveal coloboma-cleft lip and palate-intellectual disability	GUncertain significance
Select item 802714	NM_001130145.3(YAP1):c.832C>T (p.Pro278Ser)	YAP1 (P100S +2 more)	Single nucleotide variant (missense variant)	Uveal coloboma-cleft lip and palate-intellectual disability +2 more	GLikely benign
Select item 120327	NM_001130145.3(YAP1):c.1066G>T (p.Glu356Ter)	YAP1 (E356* +8 more)	Single nucleotide variant (nonsense)	Uveal coloboma-cleft lip and palate-intellectual disability	GPathogenic