"Ambry Genetics"[submitter] AND "EXT2"[gene] - ClinVar

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Items: 38

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3091277	NM_207122.2(EXT2):c.56A>G (p.Lys19Arg)	EXT2 (K52R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2550813	NM_207122.2(EXT2):c.68G>A (p.Arg23Gln)	EXT2 (R23Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3276863	NM_207122.2(EXT2):c.155C>A (p.Ser52Tyr)	EXT2 (S85Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2140328	NM_207122.2(EXT2):c.200C>T (p.Pro67Leu)	EXT2 (P100L +1 more)	Single nucleotide variant (missense variant)	Exostoses, multiple, type 2 +1 more	GUncertain significance
Select item 2739163	NM_207122.2(EXT2):c.265A>G (p.Thr89Ala)	EXT2 (T122A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2172308	NM_207122.2(EXT2):c.443A>G (p.Asn148Ser)	EXT2 (N148S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2273424	NM_207122.2(EXT2):c.452G>C (p.Cys151Ser)	EXT2 (C184S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2908601	NM_207122.2(EXT2):c.469A>C (p.Ile157Leu)	EXT2 (I190L +1 more)	Single nucleotide variant (missense variant)	Exostoses, multiple, type 2 +1 more	GUncertain significance
Select item 2190756	NM_207122.2(EXT2):c.472G>A (p.Asp158Asn)	EXT2 (D158N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2521332	NM_207122.2(EXT2):c.512C>A (p.Ala171Glu)	EXT2 (A204E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2174607	NM_207122.2(EXT2):c.537G>A (p.Arg179=)	EXT2	Single nucleotide variant (synonymous variant)	Exostoses, multiple, type 2 +1 more	GConflicting classifications of pathogenicity
Select item 1430637	NM_207122.2(EXT2):c.640G>A (p.Gly214Ser)	EXT2 (G247S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 658032	NM_207122.2(EXT2):c.656C>T (p.Thr219Met)	EXT2 (T252M +1 more)	Single nucleotide variant (missense variant)	Exostoses, multiple, type 2 +1 more	GUncertain significance
Select item 2483499	NM_207122.2(EXT2):c.755A>G (p.Tyr252Cys)	EXT2 (Y252C +1 more)	Single nucleotide variant (missense variant)	Exostoses, multiple, type 2 +1 more	GUncertain significance
Select item 3057771	NM_207122.2(EXT2):c.757T>C (p.Phe253Leu)	EXT2 (F253L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2725403	NM_207122.2(EXT2):c.760C>T (p.Leu254Phe)	EXT2 (L254F +1 more)	Single nucleotide variant (missense variant)	Exostoses, multiple, type 2 +1 more	GUncertain significance
Select item 2570798	NM_207122.2(EXT2):c.829G>T (p.Gly277Ter)	EXT2 (G277* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 2078466	NM_207122.2(EXT2):c.857G>A (p.Cys286Tyr)	EXT2 (C319Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1307214	NM_207122.2(EXT2):c.979G>C (p.Gly327Arg)	EXT2 (G327R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2058684	NM_207122.2(EXT2):c.988G>A (p.Val330Ile)	EXT2 (V363I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2540120	NM_207122.2(EXT2):c.1062A>C (p.Glu354Asp)	EXT2 (E354D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2316672	NM_207122.2(EXT2):c.1093G>A (p.Val365Ile)	EXT2 (V365I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2278767	NM_207122.2(EXT2):c.1124G>A (p.Ser375Asn)	EXT2 (S375N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 986095	NM_207122.2(EXT2):c.1171C>T (p.Gln391Ter)	EXT2 (Q391* +1 more)	Single nucleotide variant (nonsense)	Inborn genetic diseases +1 more	GPathogenic
Select item 970087	NM_207122.2(EXT2):c.1177C>T (p.Arg393Trp)	EXT2 (R393W +1 more)	Single nucleotide variant (missense variant +1 more)	Seizures-scoliosis-macrocephaly syndrome +2 more	GUncertain significance
Select item 879621	NM_207122.2(EXT2):c.1249C>T (p.Arg417Trp)	EXT2 (R450W +2 more)	Single nucleotide variant (missense variant)	Exostoses, multiple, type 2 +1 more	GConflicting classifications of pathogenicity
Select item 856988	NM_207122.2(EXT2):c.1259C>T (p.Pro420Leu)	EXT2 (P420L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2166159	NM_207122.2(EXT2):c.1328C>T (p.Pro443Leu)	EXT2, LOC126861201 (P443L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2914481	NM_207122.2(EXT2):c.1394G>A (p.Arg465Gln)	EXT2, LOC126861201 (R498Q +2 more)	Single nucleotide variant (missense variant)	Exostoses, multiple, type 2 +1 more	GUncertain significance
Select item 1054549	NM_207122.2(EXT2):c.1412G>A (p.Arg471Gln)	EXT2, LOC126861201 (R471Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2154521	NM_207122.2(EXT2):c.1462G>A (p.Val488Ile)	EXT2, LOC126861201 (V498I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2257668	NM_207122.2(EXT2):c.1480A>G (p.Lys494Glu)	EXT2, LOC126861201 (K527E +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 193766	NM_207122.2(EXT2):c.1534G>T (p.Val512Leu)	EXT2 (V512L +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2675211	NM_207122.2(EXT2):c.1582G>A (p.Glu528Lys)	EXT2 (E528K +2 more)	Single nucleotide variant (missense variant)	Exostoses, multiple, type 2 +1 more	GUncertain significance
Select item 263287	NM_207122.2(EXT2):c.1588G>A (p.Glu530Lys)	EXT2 (E530K +2 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 2063227	NM_207122.2(EXT2):c.1684C>G (p.Arg562Gly)	EXT2 (R562G +2 more)	Single nucleotide variant (missense variant)	Exostoses, multiple, type 2 +1 more	GUncertain significance
Select item 3091274	NM_207122.2(EXT2):c.1838C>T (p.Pro613Leu)	EXT2 (P613L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3091275	NM_207122.2(EXT2):c.1868A>G (p.His623Arg)	EXT2 (H633R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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Items: 38