ClinVar for MedGen (Select 869257) - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2430281	NM_004663.5(RAB11A):c.335A>G (p.His112Arg)	RAB11A (H112R)	Single nucleotide variant (missense variant)	Intellectual disability, mild +6 more	GLikely pathogenic
Select item 1684630	NC_000017.11:g.8117792_8126946del	LOC130060199, LOC130060200 +14 more	Deletion (genic upstream transcript variant)	Intellectual disability +29 more	GPathogenic
Select item 932942	NM_006593.4(TBR1):c.1635_1644dup (p.Ser549fs)	TBR1 (S549fs)	Duplication (frameshift variant)	Delayed fine motor development +4 more	GLikely pathogenic
Select item 932940	NM_006593.4(TBR1):c.933_934insCAAAGGA (p.Thr312fs)	TBR1 (T312fs)	Insertion (frameshift variant)	Delayed fine motor development +3 more	GLikely pathogenic
Select item 873324	Single allele	BARX1, FAM120A +11 more	Duplication	Delayed gross motor development +5 more	GLikely pathogenic
Select item 692154	NC_000012.12:g.2044152_2088870del	CACNA1C	Deletion	Joint laxity +4 more	GLikely pathogenic
Select item 523296	GRCh37/hg19 Xp11.21(chrX:56488503-57276424)	SPIN2A, SPIN2B +2 more	Copy number gain	Cognitive impairment +5 more	GUncertain significance
Select item 523290	GRCh37/hg19 8p23.3-23.1(chr8:194617-6816918)	AGPAT5, ANGPT2 +15 more	Copy number loss	Intellectual disability, mild +7 more	GPathogenic
Select item 523288	GRCh37/hg19 8p23.1-21.2(chr8:12580104-25947329)	ADAM28, ADAM7 +77 more	Copy number gain	Intellectual disability, mild +7 more	GPathogenic
Select item 523284	GRCh37/hg19 7q11.23(chr7:72772522-74133319)	CLDN3, CLDN4 +23 more	Copy number loss	Decreased body weight +14 more	GPathogenic
Select item 523256	GRCh37/hg19 17p11.2(chr17:16782546-20294038)	TRIM16L, MED9 +47 more	Copy number loss	Pes valgus +9 more	GPathogenic
Select item 280055	NM_001042492.3(NF1):c.2446C>T (p.Arg816Ter)	NF1 (R816*)	Single nucleotide variant (nonsense)	Hereditary cancer-predisposing syndrome +13 more	GPathogenic
Select item 268043	46;XY;der(2)inv(2)(p21p22);der(5)t(5;7)(p14.3;q32);der(7)t(7;2;5)(7pter-7p22.3::7q32-7p22.3::5p14.3-5p15.1::2p22-2p21::5p15.1-5pter)dn		Complex	Setting-sun eye phenomenon +16 more	GPathogenic
Select item 267936	46;XY;t(12;14)(q15;q13)mat		Translocation	Attention deficit hyperactivity disorder +14 more	GUncertain significance
Select item 267924	46;XY;t(16;20)(q23.1;p11.22)		Translocation	Hyperhydroxyprolinemia +24 more	GUncertain significance
Select item 267917	46;X;inv(X)(p11.2;q22)dn		Inversion	Global developmental delay +6 more	GUncertain significance
Select item 267833	46;XY;t(6;12)(q14;q24);20p+dn		Complex	Growth delay +14 more	GPathogenic
Select item 267829	46;XX;t(5;10)(p13.3;q21.1)dn		Translocation	Depression +10 more	GUncertain significance
Select item 224144	NM_006593.4(TBR1):c.1588_1594dup (p.Thr532fs)	LOC129935026, TBR1 (T532fs)	Microsatellite (frameshift variant)	Severe global developmental delay +12 more	GPathogenic/Likely pathogenic