ClinVar (all) for Orgtrack (Select 506087) - ClinVar

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Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 981177	NM_001122630.2(CDKN1C):c.789_793delinsGAGCTG (p.Asp263fs)	CDKN1C (D263fs +2 more)	Indel (frameshift variant)	Beckwith-Wiedemann syndrome +1 more	GPathogenic
Select item 587365	NM_006182.4(DDR2):c.1829T>C (p.Leu610Pro)	DDR2 (L610P)	Single nucleotide variant (missense variant)	Warburg-cinotti syndrome	GPathogenic
Select item 586979	NM_006182.4(DDR2):c.2219A>G (p.Tyr740Cys)	DDR2 (Y740C)	Single nucleotide variant (missense variant)	Warburg-cinotti syndrome +1 more	GUncertain significance
Select item 523233	NM_138615.3(DHX30):c.2723G>A (p.Arg908Gln)	DHX30 (R869Q +2 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with severe motor impairment and absent language +1 more	GConflicting classifications of pathogenicity
Select item 520542	NM_003491.4(NAA10):c.332T>G (p.Val111Gly)	NAA10 (V111G +1 more)	Single nucleotide variant (missense variant)	Ogden syndrome	GPathogenic
Select item 446492	NM_001650.7(AQP4):c.332G>C (p.Ser111Thr)	AQP4 (S111T +1 more)	Single nucleotide variant (missense variant)	Intellectual disability	GLikely pathogenic
Select item 376489	NM_006218.4(PIK3CA):c.1034A>C (p.Asn345Thr)	PIK3CA (N345T)	Single nucleotide variant (missense variant)	Megalencephaly-capillary malformation-polymicrogyria syndrome +1 more	GPathogenic
Select item 375725	NM_031407.7(HUWE1):c.12928G>C (p.Gly4310Arg)	HUWE1 (G4310R)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 375724	NM_031407.7(HUWE1):c.12885G>C (p.Lys4295Asn)	HUWE1 (K4295N)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 375723	NM_031407.7(HUWE1):c.12732G>C (p.Glu4244Asp)	HUWE1 (E4244D)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked syndromic, Turner type	GLikely pathogenic
Select item 375722	NM_031407.7(HUWE1):c.12469C>G (p.Leu4157Val)	HUWE1 (L4157V)	Single nucleotide variant (missense variant)	not provided +2 more	GLikely pathogenic
Select item 375721	NM_031407.7(HUWE1):c.12317A>G (p.Tyr4106Cys)	HUWE1 (Y4106C)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked syndromic, Turner type	GLikely pathogenic
Select item 375720	NM_031407.7(HUWE1):c.12225C>G (p.Asn4075Lys)	HUWE1 (N4075K)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked syndromic, Turner type	GLikely pathogenic
Select item 375719	NM_031407.7(HUWE1):c.12205A>T (p.Ile4069Phe)	HUWE1 (I4069F)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked syndromic, Turner type	GLikely pathogenic
Select item 375718	NM_031407.7(HUWE1):c.12067C>T (p.Arg4023Cys)	HUWE1 (R4023C)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 375717	NM_031407.7(HUWE1):c.9581T>C (p.Phe3194Ser)	HUWE1 (F3194S)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked syndromic, Turner type	GLikely pathogenic
Select item 375716	NM_031407.7(HUWE1):c.6267T>G (p.Ile2089Met)	HUWE1 (I2089M)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked syndromic, Turner type	GLikely pathogenic
Select item 375715	NM_031407.7(HUWE1):c.4942A>T (p.Ser1648Cys)	HUWE1 (S1648C)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 375714	NM_031407.7(HUWE1):c.3982A>G (p.Met1328Val)	HUWE1 (M1328V)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked syndromic, Turner type	GLikely pathogenic
Select item 375713	NM_031407.7(HUWE1):c.2007T>G (p.His669Gln)	HUWE1 (H669Q)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked syndromic, Turner type	GLikely pathogenic
Select item 375712	NM_031407.7(HUWE1):c.1978G>A (p.Gly660Arg)	HUWE1 (G660R)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked syndromic, Turner type	GLikely pathogenic
Select item 375711	NM_031407.7(HUWE1):c.567+1G>C	HUWE1	Single nucleotide variant (splice donor variant)	Intellectual disability, X-linked syndromic, Turner type	GPathogenic
Select item 375710	NM_031407.7(HUWE1):c.344C>T (p.Ser115Phe)	HUWE1 (S115F)	Single nucleotide variant (missense variant)	X-linked intellectual disability +1 more	GLikely pathogenic
Select item 375709	NM_031407.7(HUWE1):c.329G>A (p.Arg110Gln)	HUWE1 (R110Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GPathogenic
Select item 280723	NM_031407.7(HUWE1):c.9208C>T (p.Arg3070Cys)	HUWE1 (R3070C)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked syndromic, Turner type +3 more	GPathogenic/Likely pathogenic
Select item 280609	NM_006912.6(RIT1):c.365G>T (p.Arg122Leu)	RIT1 (R122L +2 more)	Single nucleotide variant (missense variant)	Noonan syndrome 8 +3 more	GConflicting classifications of pathogenicity
Select item 252965	NM_005120.3(MED12):c.5922G>T (p.Gln1974His)	MED12 (Q1974H)	Single nucleotide variant (missense variant)	FG syndrome +2 more	GUncertain significance
Select item 217386	NM_000169.3(GLA):c.490G>T (p.Val164Leu)	GLA, RPL36A-HNRNPH2 (V164L)	Single nucleotide variant (missense variant +2 more)	Fabry disease	GUncertain significance

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Items: 28