ClinVar for MedGen (Select 57436) - ClinVar

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Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1174572	NM_005585.5(SMAD6):c.89_100dup (p.Gly30_Gly33dup)	SMAD6	Duplication (inframe_insertion +1 more)	Bicuspid aortic valve +2 more	GUncertain significance
Select item 983420	NM_006849.4(PDIA2):c.383G>A (p.Arg128His)	PDIA2 (R128H)	Single nucleotide variant (missense variant)	Bicuspid aortic valve	GUncertain significance
Select item 626321	NC_012920.1:m.8420_8421insATA	MT-ATP8	Insertion	Bicuspid aortic valve	GPathogenic
Select item 623485	NM_014462.3(LSM1):c.231+4A>C	LSM1	Single nucleotide variant (intron variant)	Triphalangeal thumb +19 more	GUncertain significance
Select item 590899	NC_012920.1:m.8751_8752insAAA	MT-ATP6	Insertion	Bicuspid aortic valve	GPathogenic
Select item 590268	NC_012920.1:m.8950G>A	MT-ATP6	Single nucleotide variant	Leigh syndrome	GBenign
Select item 560405	NM_019055.6(ROBO4):c.1601_1614del (p.Gly534fs)	ROBO4 (G389fs +1 more)	Deletion (frameshift variant)	Bicuspid aortic valve +1 more	GLikely pathogenic
Select item 560404	NM_019055.6(ROBO4):c.2056+1G>T	ROBO4	Single nucleotide variant (splice donor variant)	Bicuspid aortic valve +1 more	GLikely pathogenic
Select item 560403	NM_019055.6(ROBO4):c.1529A>T (p.Asp510Val)	ROBO4 (D510V +1 more)	Single nucleotide variant (missense variant)	Bicuspid aortic valve +1 more	GUncertain significance
Select item 560402	NM_019055.6(ROBO4):c.2245_2246delinsCT (p.Ala749Leu)	ROBO4 (A604L +1 more)	Indel (missense variant)	Bicuspid aortic valve +1 more	GLikely pathogenic
Select item 560401	NM_019055.6(ROBO4):c.1864G>C (p.Asp622His)	ROBO4 (D622H +1 more)	Single nucleotide variant (missense variant)	Bicuspid aortic valve +1 more	GLikely pathogenic
Select item 560400	NM_019055.6(ROBO4):c.839A>C (p.Tyr280Ser)	ROBO4 (Y280S +1 more)	Single nucleotide variant (missense variant)	Bicuspid aortic valve +1 more	GLikely pathogenic
Select item 560399	NM_019055.6(ROBO4):c.740T>C (p.Val247Ala)	ROBO4 (V247A +1 more)	Single nucleotide variant (missense variant)	Bicuspid aortic valve +1 more	GLikely pathogenic
Select item 560398	NM_019055.6(ROBO4):c.1702C>T (p.Arg568Ter)	ROBO4 (R568* +1 more)	Single nucleotide variant (nonsense)	ROBO4-related condition +2 more	GConflicting classifications of pathogenicity
Select item 560397	NM_019055.6(ROBO4):c.1233T>A (p.His411Gln)	ROBO4 (H411Q +1 more)	Single nucleotide variant (missense variant)	Bicuspid aortic valve +1 more	GLikely pathogenic
Select item 560396	NM_019055.6(ROBO4):c.695C>T (p.Thr232Met)	ROBO4 (T232M +1 more)	Single nucleotide variant (missense variant)	Bicuspid aortic valve +1 more	GLikely pathogenic
Select item 560395	NM_019055.6(ROBO4):c.283G>A (p.Ala95Thr)	ROBO4 (A95T)	Single nucleotide variant (5 prime UTR variant +1 more)	Bicuspid aortic valve +1 more	GLikely pathogenic
Select item 560394	NM_019055.6(ROBO4):c.190C>T (p.Arg64Cys)	ROBO4 (R64C)	Single nucleotide variant (missense variant +1 more)	Aortic valve disease 3 +2 more	GConflicting classifications of pathogenicity
Select item 520027	NM_017617.5(NOTCH1):c.5215G>A (p.Val1739Met)	NOTCH1 (V1739M)	Single nucleotide variant (missense variant)	not provided +7 more	GConflicting classifications of pathogenicity
Select item 436796	NM_005585.5(SMAD6):c.362G>A (p.Cys121Tyr)	SMAD6 (C121Y)	Single nucleotide variant (missense variant +1 more)	Bicuspid aortic valve +2 more	GConflicting classifications of pathogenicity
Select item 405474	NM_002474.3(MYH11):c.3560C>T (p.Thr1187Met)	MYH11 (T1194M +1 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GUncertain significance
Select item 374137	NM_004415.4(DSP):c.2528C>A (p.Ser843Ter)	DSP (S843*)	Single nucleotide variant (nonsense)	Cardiomyopathy +5 more	GPathogenic
Select item 373942	NM_001942.4(DSG1):c.604G>T (p.Glu202Ter)	DSG1 (E202*)	Single nucleotide variant (nonsense)	Hereditary palmoplantar keratoderma +1 more	GLikely pathogenic
Select item 373443	NM_001292034.3(TAB2):c.1039C>T (p.Arg347Ter)	LOC126859827, TAB2 (R347* +1 more)	Single nucleotide variant (nonsense)	Migraine +5 more	GPathogenic/Likely pathogenic
Select item 267817	46;XY;t(1;5)(p35.3;q31.3)dn		Translocation	Low-set, posteriorly rotated ears +17 more	GPathogenic
Select item 213732	NM_030777.4(SLC2A10):c.929C>T (p.Ser310Phe)	SLC2A10 (S310F)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GUncertain significance
Select item 134918	NM_017617.5(NOTCH1):c.2495C>T (p.Pro832Leu)	NOTCH1 (P832L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +6 more	GConflicting classifications of pathogenicity

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Items: 27