ClinVar for MedGen (Select 2109) - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 638564	NM_004117.4(FKBP5):c.106-2332A>C	FKBP5	Single nucleotide variant (intron variant)	Asthma	Grisk factor
Select item 267942	46;XY;t(1;14)(q42;q13)		Translocation	Global developmental delay +7 more	GUncertain significance
Select item 267924	46;XY;t(16;20)(q23.1;p11.22)		Translocation	Sleep abnormality +24 more	GUncertain significance
Select item 267914	46;XY;t(9;14)(p21;q12)dn		Translocation	Hypernasal speech +9 more	GUncertain significance
Select item 267892	46;XX;t(4;14)(p15.2;q13)dn		Translocation	Abnormality of the dentition +14 more	GLikely pathogenic
Select item 267862	46;XY;t(1;3)(p22;q21)dn		Translocation	Corpus callosum, agenesis of +24 more	GUncertain significance
Select item 267847	46;XY;t(9;11)(q34;p11.2)dn		Translocation	Emotional lability +12 more	GPathogenic
Select item 267820	46;XY;t(16;20)(q11.2;q13.2)dn		Translocation	Global developmental delay +10 more	GUncertain significance
Select item 267810	46;XX;t(4;15)(q31.3;q15)		Translocation	Asthma +5 more	GUncertain significance
Select item 267807	46;XY;t(7;9)(q21;p23)dn		Translocation	Global developmental delay +5 more	GLikely pathogenic
Select item 48648	NM_032415.7(CARD11):c.367G>A (p.Gly123Ser)	CARD11, CARD11-AS1 (G123S)	Single nucleotide variant (missense variant)	Splenomegaly +5 more	GPathogenic
Select item 37935	NM_000059.4(BRCA2):c.4936_4939del (p.Glu1646fs)	BRCA2	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 12712	NM_001060.6(TBXA2R):c.179G>T (p.Arg60Leu)	TBXA2R (R60L)	Single nucleotide variant (missense variant)	Bleeding disorder, platelet-type, 13, susceptibility to	GBenign