ClinVar for MedGen (Select 909039) - ClinVar

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Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3382526	NM_207122.2(EXT2):c.340dup (p.Tyr114fs)	EXT2 (Y114fs +1 more)	Duplication (frameshift variant)	Exostoses, multiple, type 2 +1 more	GPathogenic
Select item 1441831	NM_207122.2(EXT2):c.667C>T (p.Arg223Trp)	EXT2 (R223W +1 more)	Single nucleotide variant (missense variant)	Exostoses, multiple, type 2 +2 more	GUncertain significance
Select item 1421787	NM_207122.2(EXT2):c.1669C>T (p.Arg557Trp)	EXT2 (R567W +2 more)	Single nucleotide variant (missense variant)	Seizures-scoliosis-macrocephaly syndrome +1 more	GUncertain significance
Select item 1334100	NM_207122.2(EXT2):c.939+2T>C	EXT2	Single nucleotide variant (splice donor variant)	Seizures-scoliosis-macrocephaly syndrome	GLikely pathogenic
Select item 1324357	NM_207122.2(EXT2):c.1506G>A (p.Trp502Ter)	EXT2 (W502* +2 more)	Single nucleotide variant (nonsense)	Seizures-scoliosis-macrocephaly syndrome +1 more	GLikely pathogenic
Select item 1319798	NM_207122.2(EXT2):c.1305+2T>C	EXT2	Single nucleotide variant (splice donor variant)	Seizures-scoliosis-macrocephaly syndrome +2 more	GConflicting classifications of pathogenicity
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 838313	NM_207122.2(EXT2):c.1945C>T (p.Arg649Ter)	EXT2 (R682* +2 more)	Single nucleotide variant (nonsense)	Exostoses, multiple, type 2 +3 more	GPathogenic/Likely pathogenic
Select item 816885	NM_207122.2(EXT2):c.1173G>A (p.Gln391=)	EXT2	Single nucleotide variant (synonymous variant)	Seizures-scoliosis-macrocephaly syndrome	GLikely pathogenic
Select item 788070	NM_207122.2(EXT2):c.382C>T (p.Arg128Trp)	EXT2 (R128W +1 more)	Single nucleotide variant (missense variant)	Seizures-scoliosis-macrocephaly syndrome +2 more	GConflicting classifications of pathogenicity
Select item 772195	NM_207122.2(EXT2):c.1527A>G (p.Leu509=)	EXT2	Single nucleotide variant (synonymous variant)	Seizures-scoliosis-macrocephaly syndrome +1 more	GLikely benign
Select item 638619	NM_207122.2(EXT2):c.1823A>G (p.Tyr608Cys)	EXT2 (Y608C +2 more)	Single nucleotide variant (missense variant)	Exostoses, multiple, type 2	GLikely pathogenic
Select item 638379	NM_207122.2(EXT2):c.571A>G (p.Met191Val)	EXT2 (M191V +1 more)	Single nucleotide variant (missense variant)	Exostoses, multiple, type 2 +1 more	GUncertain significance
Select item 580003	NM_207122.2(EXT2):c.1393C>T (p.Arg465Ter)	EXT2, LOC126861201 (R498* +2 more)	Single nucleotide variant (nonsense)	Seizures-scoliosis-macrocephaly syndrome +2 more	GConflicting classifications of pathogenicity
Select item 547989	NM_207122.2(EXT2):c.1019T>A (p.Val340Asp)	EXT2 (V340D +1 more)	Single nucleotide variant (missense variant)	Seizures-scoliosis-macrocephaly syndrome +1 more	GUncertain significance
Select item 534138	NM_207122.2(EXT2):c.67C>T (p.Arg23Ter)	EXT2 (R23* +1 more)	Single nucleotide variant (nonsense)	Exostoses, multiple, type 2 +2 more	GPathogenic
Select item 304585	NM_207122.2(EXT2):c.1017T>C (p.Cys339=)	EXT2	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 304577	NM_207122.2(EXT2):c.519G>C (p.Ala173=)	EXT2	Single nucleotide variant (synonymous variant)	Seizures-scoliosis-macrocephaly syndrome +3 more	GBenign/Likely benign
Select item 304572	NM_207122.2(EXT2):c.11C>T (p.Ser4Leu)	EXT2 (S37L +1 more)	Single nucleotide variant (missense variant)	Exostoses, multiple, type 2 +1 more	GConflicting classifications of pathogenicity
Select item 288165	NM_207122.2(EXT2):c.698A>G (p.Tyr233Cys)	EXT2 (Y233C +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 279805	NM_207122.2(EXT2):c.906_907dup (p.His303fs)	EXT2 (H336fs +1 more)	Duplication (frameshift variant)	Exostoses, multiple, type 2 +2 more	GPathogenic
Select item 265133	NM_207122.2(EXT2):c.544C>T (p.Arg182Ter)	EXT2 (R182* +1 more)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 218894	NM_207122.1(EXT2):c.[260T>G;283C>T]	EXT2 (M120R +3 more)	Single nucleotide variant (missense variant)	Seizures-scoliosis-macrocephaly syndrome	GPathogenic
Select item 198636	NM_207122.2(EXT2):c.1080-18T>A	EXT2	Single nucleotide variant (intron variant)	not provided +4 more	GBenign
Select item 134218	NM_207122.2(EXT2):c.1178G>A (p.Arg393Gln)	EXT2 (R393Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 134215	NM_207122.2(EXT2):c.1022C>T (p.Pro341Leu)	EXT2 (P341L +1 more)	Single nucleotide variant (missense variant)	Seizures-scoliosis-macrocephaly syndrome +2 more	GConflicting classifications of pathogenicity
Select item 134205	NM_207122.2(EXT2):c.1916C>T (p.Thr639Met)	EXT2 (T639M +2 more)	Single nucleotide variant (missense variant)	Seizures-scoliosis-macrocephaly syndrome +1 more	GConflicting classifications of pathogenicity
Select item 2474	NM_207122.2(EXT2):c.679G>A (p.Asp227Asn)	EXT2 (D227N +1 more)	Single nucleotide variant (missense variant)	Exostoses, multiple, type 2 +2 more	GPathogenic
Select item 2472	NM_207122.2(EXT2):c.514C>T (p.Gln172Ter)	EXT2 (Q172* +1 more)	Single nucleotide variant (nonsense)	Seizures-scoliosis-macrocephaly syndrome +3 more	GPathogenic

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Items: 29