ClinVar for MedGen (Select 408291) - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 992765	NM_006015.6(ARID1A):c.270CGG[4] (p.Gly93dup)	ARID1A	Microsatellite (inframe_insertion)	Pulmonic stenosis +1 more	GUncertain significance
Select item 598963	NM_019026.6(TMCO1):c.463C>T (p.Arg155Ter)	TMCO1 (R206* +2 more)	Single nucleotide variant (nonsense +1 more)	See cases +20 more	GPathogenic
Select item 492839	NM_002474.3(MYH11):c.3728T>C (p.Leu1243Pro)	MYH11 (L1243P +1 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GConflicting classifications of pathogenicity
Select item 268035	46;XX;t(19;21)(q13.3;q22.3)dn		Translocation	Pectus excavatum +22 more	GPathogenic
Select item 267851	46;XX;ins(5;6)(p13;p24p25)dn		Translocation	Isolated Pierre-Robin syndrome +14 more	GPathogenic
Select item 267847	46;XY;t(9;11)(q34;p11.2)dn		Translocation	Emotional lability +12 more	GPathogenic
Select item 190707	NM_000719.7(CACNA1C):c.76G>A (p.Ala26Thr)	CACNA1C (A26T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 183288	NM_133444.3(ZNF526):c.479A>C (p.Lys160Thr)	ZNF526 (K160T)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 95305	NM_005634.3(SOX3):c.735_737dup (p.Ala248dup)	SOX3	Duplication (inframe_insertion)	SOX3-related condition +28 more	GConflicting classifications of pathogenicity
Select item 40672	NM_005633.4(SOS1):c.1300G>A (p.Gly434Arg)	SOS1 (G434R +1 more)	Single nucleotide variant (missense variant)	Noonan syndrome 4 +12 more	GPathogenic/Likely pathogenic
Select item 40439	NM_005343.4(HRAS):c.277A>G (p.Ile93Val)	HRAS, LRRC56 (I93V)	Single nucleotide variant (missense variant +1 more)	Costello syndrome	GUncertain significance FDA Recognized database
Select item 13978	NM_004333.6(BRAF):c.1502A>G (p.Glu501Gly)	BRAF (E501G +7 more)	Single nucleotide variant (missense variant)	not provided +13 more	GPathogenic/Likely pathogenic
Select item 9034	NM_001308093.3(GATA4):c.1276G>A (p.Asp426Asn)	GATA4 (D425N +3 more)	Single nucleotide variant (missense variant)	Pulmonary valve atresia +8 more	GConflicting classifications of pathogenicity