ClinVar for MedGen (Select 78752) - ClinVar

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Items: 46

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3064229	NM_006306.4(SMC1A):c.664C>T (p.Gln222Ter)	SMC1A (Q200* +1 more)	Single nucleotide variant (nonsense)	De Lange syndrome	GPathogenic
Select item 1992409	NM_001379291.1(BRD4):c.2800_2808del (p.Gln934_Gln936del)	BRD4	Deletion (inframe_deletion)	De Lange syndrome	GUncertain significance
Select item 1992306	NM_001379291.1(BRD4):c.1946C>G (p.Pro649Arg)	BRD4 (P649R)	Single nucleotide variant (missense variant)	De Lange syndrome	GUncertain significance
Select item 1803167	NM_001379291.1(BRD4):c.2825C>T (p.Thr942Met)	BRD4 (T942M)	Single nucleotide variant (missense variant)	De Lange syndrome	GUncertain significance
Select item 1699380	NM_001379291.1(BRD4):c.2135C>T (p.Ser712Phe)	BRD4 (S712F)	Single nucleotide variant (missense variant)	De Lange syndrome	GUncertain significance
Select item 1699222	NM_001379291.1(BRD4):c.1507T>A (p.Ser503Thr)	BRD4 (S503T)	Single nucleotide variant (missense variant)	De Lange syndrome	GUncertain significance
Select item 1685591	NM_001379291.1(BRD4):c.4020+1G>A	BRD4	Single nucleotide variant (splice donor variant)	De Lange syndrome	GPathogenic
Select item 1199230	NM_006265.3(RAD21):c.233_234del (p.Asp77_Cys78insTer)	RAD21	Deletion (nonsense)	De Lange syndrome	GLikely pathogenic
Select item 981168	NM_001379291.1(BRD4):c.1164C>A (p.His388Gln)	BRD4 (H388Q)	Single nucleotide variant (missense variant)	De Lange syndrome	GUncertain significance
Select item 973328	NM_133433.4(NIPBL):c.5054C>T (p.Thr1685Ile)	NIPBL (T1685I)	Single nucleotide variant (missense variant)	De Lange syndrome	GUncertain significance
Select item 804315	NM_133433.4(NIPBL):c.7697A>G (p.Lys2566Arg)	NIPBL (K2566R)	Single nucleotide variant (missense variant)	De Lange syndrome	GLikely benign
Select item 695033	NM_005445.4(SMC3):c.381C>G (p.Ser127Arg)	SMC3 (S127R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GLikely pathogenic
Select item 695026	NM_005445.4(SMC3):c.3563G>T (p.Gly1188Val)	SMC3 (G1188V)	Single nucleotide variant (missense variant)	De Lange syndrome	GLikely pathogenic
Select item 627581	NM_133433.4(NIPBL):c.3439C>T (p.Arg1147Ter)	NIPBL (R1147*)	Single nucleotide variant (nonsense)	De Lange syndrome	GPathogenic
Select item 368882	NM_005445.3(SMC3):c.-130G>A	SMC3	Single nucleotide variant	De Lange syndrome	GLikely benign
Select item 368881	NM_005445.3(SMC3):c.-135G>A	SMC3	Single nucleotide variant	De Lange syndrome	GLikely benign
Select item 368587	NM_006306.4(SMC1A):c.*96C>T	SMC1A	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GLikely benign
Select item 368586	NM_006306.4(SMC1A):c.*348C>T	SMC1A	Single nucleotide variant (3 prime UTR variant)	De Lange syndrome	GUncertain significance
Select item 368581	NM_006306.4(SMC1A):c.*817ACAG[1]	SMC1A	Microsatellite (3 prime UTR variant)	De Lange syndrome	GUncertain significance
Select item 368570	NM_006306.4(SMC1A):c.*2540C>G	SMC1A	Single nucleotide variant (3 prime UTR variant)	De Lange syndrome	GLikely benign
Select item 368569	NM_006306.4(SMC1A):c.*2589A>G	SMC1A	Single nucleotide variant (3 prime UTR variant)	De Lange syndrome	GLikely benign
Select item 368564	NM_006306.4(SMC1A):c.*2973C>T	SMC1A	Single nucleotide variant (3 prime UTR variant)	De Lange syndrome	GLikely benign
Select item 368558	NM_006306.4(SMC1A):c.*3838G>A	SMC1A	Single nucleotide variant (3 prime UTR variant)	De Lange syndrome	GLikely benign
Select item 368552	NM_006306.4(SMC1A):c.*4645T>C	SMC1A	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GLikely benign
Select item 368551	NM_006306.4(SMC1A):c.4952_4953del	SMC1A	Deletion (3 prime UTR variant)	De Lange syndrome	GLikely benign
Select item 368546	NM_006306.4(SMC1A):c.*5380G>A	SMC1A	Single nucleotide variant (3 prime UTR variant)	De Lange syndrome	GLikely benign
Select item 353398	NM_133433.4(NIPBL):c.742_743del	NIPBL	Deletion (3 prime UTR variant)	De Lange syndrome	GUncertain significance
Select item 353395	NM_133433.4(NIPBL):c.*460del	NIPBL	Deletion (3 prime UTR variant)	not provided +1 more	GUncertain significance
Select item 353393	NM_133433.4(NIPBL):c.282_285del	NIPBL	Deletion (3 prime UTR variant)	De Lange syndrome +1 more	GLikely benign
Select item 353392	NM_133433.4(NIPBL):c.265_266del	NIPBL	Deletion (3 prime UTR variant)	De Lange syndrome	GUncertain significance
Select item 353373	NM_133433.4(NIPBL):c.1376T>G (p.Ile459Arg)	NIPBL (I459R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 353370	NM_133433.4(NIPBL):c.-153dup	NIPBL	Duplication (5 prime UTR variant)	De Lange syndrome	GUncertain significance
Select item 353362	NM_133433.4(NIPBL):c.-416dup	NIPBL	Duplication (5 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 353359	NM_133433.4(NIPBL):c.-429del	NIPBL	Deletion (5 prime UTR variant)	De Lange syndrome	GLikely benign
Select item 298781	NM_005445.4(SMC3):c.*298del	SMC3	Deletion (3 prime UTR variant)	De Lange syndrome	GUncertain significance
Select item 298775	NM_005445.4(SMC3):c.2535+28del	SMC3	Deletion (intron variant)	De Lange syndrome +1 more	GBenign
Select item 298774	NM_005445.4(SMC3):c.2535+28dup	SMC3	Duplication (intron variant)	De Lange syndrome +1 more	GConflicting classifications of pathogenicity
Select item 298768	NM_005445.4(SMC3):c.1670+6_1670+7insAAC	SMC3	Insertion (intron variant)	De Lange syndrome +1 more	GConflicting classifications of pathogenicity
Select item 224089	NM_005445.4(SMC3):c.283G>A (p.Glu95Lys)	SMC3 (E95K)	Single nucleotide variant (missense variant)	De Lange syndrome +1 more	GLikely pathogenic
Select item 211619	NM_133433.4(NIPBL):c.*84dup	NIPBL	Duplication (3 prime UTR variant)	not specified +1 more	GBenign/Likely benign
Select item 159991	NM_005445.4(SMC3):c.724-6dup	SMC3	Duplication (intron variant)	De Lange syndrome +3 more	GBenign
Select item 159989	NM_005445.4(SMC3):c.548-5_548-4dup	SMC3	Duplication (intron variant)	De Lange syndrome +4 more	GBenign/Likely benign
Select item 159937	NM_006306.4(SMC1A):c.*14C>T	SMC1A	Single nucleotide variant (3 prime UTR variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 96330	NM_133433.4(NIPBL):c.1495+8_1495+10del	NIPBL	Microsatellite (intron variant)	Cornelia de Lange syndrome 1 +3 more	GBenign/Likely benign
Select item 95365	NM_006306.4(SMC1A):c.2197-5T>C	SMC1A	Single nucleotide variant (intron variant)	Congenital muscular hypertrophy-cerebral syndrome +4 more	GBenign/Likely benign
Select item 95364	NM_006306.4(SMC1A):c.-19C>T	SMC1A	Single nucleotide variant (5 prime UTR variant)	not specified +4 more	GBenign

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Links from MedGen

Items: 46