ClinVar for MedGen (Select 68625) - ClinVar

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Items: 37

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1195980	NM_005032.7(PLS3):c.1054T>C (p.Phe352Leu)	PLS3 (F307L +3 more)	Single nucleotide variant (missense variant)	Hernia, anterior diaphragmatic	GUncertain significance
Select item 1195979	NM_005032.7(PLS3):c.617C>T (p.Ala206Val)	PLS3 (A161V +3 more)	Single nucleotide variant (missense variant)	Hernia, anterior diaphragmatic	GLikely pathogenic
Select item 996740	NM_001127392.3(MYRF):c.239dup (p.Gly81fs)	MYRF (G72fs +1 more)	Duplication (frameshift variant)	Heart, malformation of +2 more	GLikely pathogenic
Select item 996607	NM_001127392.3(MYRF):c.1209G>C (p.Gln403His)	MYRF (Q394H +1 more)	Single nucleotide variant (missense variant)	Heart, malformation of +2 more	GLikely pathogenic
Select item 996605	NM_001127392.3(MYRF):c.1904-1G>A	MYRF	Single nucleotide variant (splice acceptor variant)	Heart, malformation of +2 more	GLikely pathogenic
Select item 996604	NM_001127392.3(MYRF):c.2036T>C (p.Val679Ala)	MYRF (V670A +1 more)	Single nucleotide variant (missense variant)	MYRF-related condition	GLikely pathogenic
Select item 992573	NM_001004356.3(FGFRL1):c.1328G>C (p.Gly443Ala)	FGFRL1 (G443A)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 992572	NM_001004356.3(FGFRL1):c.886A>G (p.Ile296Val)	FGFRL1 (I296V)	Single nucleotide variant (missense variant)	Congenital diaphragmatic hernia +1 more	GUncertain significance
Select item 816905	NM_002430.3(MN1):c.3839del (p.Cys1280fs)	MN1 (C1280fs)	Deletion (frameshift variant)	Atrial septal defect +1 more	GUncertain significance
Select item 816896	NM_006767.4(LZTR1):c.955del (p.Gln319fs)	LZTR1 (Q319fs)	Deletion (frameshift variant)	Congenital diaphragmatic hernia +3 more	GConflicting classifications of pathogenicity
Select item 631491	NM_001260.3(CDK8):c.185C>A (p.Ser62Ter)	CDK8 (S62*)	Single nucleotide variant (nonsense +1 more)	Heart, malformation of +6 more	GPathogenic
Select item 619229	NM_001127392.3(MYRF):c.2084G>A (p.Arg695His)	MYRF (R695H +1 more)	Single nucleotide variant (missense variant)	Cardiac-urogenital syndrome	GUncertain significance
Select item 619228	NM_001127392.3(MYRF):c.1303G>A (p.Gly435Arg)	MYRF (G435R +1 more)	Single nucleotide variant (missense variant)	Heart, malformation of +3 more	GPathogenic/Likely pathogenic
Select item 599004	NM_033419.5(PGAP3):c.851A>G (p.His284Arg)	PGAP3 (H284R +2 more)	Single nucleotide variant (missense variant +1 more)	See cases +12 more	GPathogenic/Likely pathogenic
Select item 599003	NM_001242896.3(DEPDC5):c.2785G>A (p.Gly929Ser)	DEPDC5 (G929S +3 more)	Single nucleotide variant (missense variant +1 more)	Low-set ears +9 more	GUncertain significance
Select item 427835	NM_207361.5(FREM2):c.[4031G>A];[4558C>T]			Congenital diaphragmatic hernia	GLikely pathogenic
Select item 374171	NM_133433.4(NIPBL):c.1811_1812del (p.Lys603_Ser604insTer)	NIPBL	Deletion (nonsense)	Cornelia de Lange syndrome 1 +9 more	GLikely pathogenic
Select item 369979	NM_019055.6(ROBO4):c.569G>C (p.Gly190Ala)	ROBO4 (G190A +1 more)	Single nucleotide variant (missense variant)	Congenital diaphragmatic hernia	Grisk factor
Select item 369978	NM_025074.7(FRAS1):c.6323A>T (p.Asp2108Val)	FRAS1 (D2108V)	Single nucleotide variant (missense variant)	Congenital diaphragmatic hernia	Grisk factor
Select item 369977	NM_207361.6(FREM2):c.4994C>T (p.Ser1665Phe)	FREM2 (S1665F)	Single nucleotide variant (missense variant)	Congenital diaphragmatic hernia	Grisk factor
Select item 369976	NM_000168.6(GLI3):c.2726C>G (p.Ala909Gly)	GLI3 (A909G)	Single nucleotide variant (missense variant)	Congenital diaphragmatic hernia	Grisk factor
Select item 369975	NM_025074.7(FRAS1):c.2389G>A (p.Glu797Lys)	FRAS1 (E797K)	Single nucleotide variant (missense variant)	FRAS1-related condition	GUncertain significance
Select item 369974	NM_207361.6(FREM2):c.5940_5942del (p.Leu1981del)	FREM2 (L1981del)	Deletion (inframe_deletion)	Congenital diaphragmatic hernia	GLikely pathogenic
Select item 311971	NM_207361.6(FREM2):c.4031G>A (p.Arg1344His)	FREM2 (R1344H)	Single nucleotide variant (missense variant)	not specified +4 more	GBenign/Likely benign
Select item 267953	46;XY;t(1;6)(p22;q15)dn		Translocation	Congenital diaphragmatic hernia	GUncertain significance
Select item 267841	46;XX;t(7;13)(p13;q34)dn		Translocation	Muscular dystrophy +18 more	GPathogenic
Select item 267803	46;X;t(X;10)(p11.2;q24.3)		Translocation	Clinodactyly +11 more	GUncertain significance
Select item 218940	NM_181458.4(PAX3):c.944C>A (p.Thr315Lys)	PAX3 (T315K +1 more)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 218939	NM_001379081.2(FREM1):c.1394G>C (p.Gly465Ala)	FREM1 (G465A)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 218938	NM_000138.5(FBN1):c.4970_4971insA (p.Cys1658fs)	FBN1 (C1658fs)	Insertion (frameshift variant)	Congenital diaphragmatic hernia	GLikely pathogenic
Select item 198348	NM_025074.7(FRAS1):c.9806G>A (p.Arg3269Gln)	FRAS1 (R3269Q)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 195313	NM_016239.4(MYO15A):c.1454T>C (p.Val485Ala)	MYO15A (V485A)	Single nucleotide variant (missense variant)	not specified +13 more	GConflicting classifications of pathogenicity
Select item 156011	NM_005257.6(GATA6):c.1072del (p.Val358fs)	GATA6 (V358fs)	Deletion (frameshift variant)	Congenital diaphragmatic hernia +1 more	GPathogenic
Select item 156010	NM_005257.6(GATA6):c.712G>T (p.Gly238Ter)	GATA6 (G238*)	Single nucleotide variant (nonsense)	Congenital diaphragmatic hernia +1 more	GPathogenic
Select item 44265	NM_001927.4(DES):c.638C>T (p.Ala213Val)	DES (A213V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +8 more	GConflicting classifications of pathogenicity
Select item 41624	NM_000245.4(MET):c.2975C>T (p.Thr992Ile)	MET (T1010I +2 more)	Single nucleotide variant (missense variant)	MET-related condition +7 more	GConflicting classifications of pathogenicity
Select item 30213	NM_005257.6(GATA6):c.1366C>T (p.Arg456Cys)	GATA6 (R456C)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic

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Items: 37