ClinVar for MedGen (Select 342400) - ClinVar

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Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2056128	NM_001330677.2(TBX15):c.1609G>A (p.Ala537Thr)	TBX15 (A431T +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1905650	NM_001330677.2(TBX15):c.493A>G (p.Ile165Val)	TBX15 (I165V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1600982	NM_001330677.2(TBX15):c.861+14C>G	TBX15	Single nucleotide variant (intron variant)	Pelviscapular dysplasia +1 more	GBenign/Likely benign
Select item 1434092	NM_001330677.2(TBX15):c.1150G>A (p.Val384Met)	TBX15 (V384M +1 more)	Single nucleotide variant (missense variant)	Pelviscapular dysplasia +1 more	GUncertain significance
Select item 1433420	NM_001330677.2(TBX15):c.752T>C (p.Phe251Ser)	TBX15 (F145S +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1408532	NM_001330677.2(TBX15):c.1721A>G (p.Asn574Ser)	TBX15 (N574S +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1408298	NM_001330677.2(TBX15):c.1208C>T (p.Ala403Val)	TBX15 (A297V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1376334	NM_001330677.2(TBX15):c.1404G>C (p.Gln468His)	TBX15 (Q362H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1263403	NM_001330677.2(TBX15):c.694-49T>C	TBX15	Single nucleotide variant (intron variant)	Pelviscapular dysplasia +1 more	GBenign
Select item 1240908	NM_001330677.2(TBX15):c.466C>A (p.His156Asn)	TBX15 (H156N +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1221451	NM_001330677.2(TBX15):c.1710C>T (p.Ser570=)	TBX15	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1029193	NM_001330677.2(TBX15):c.943A>G (p.Ile315Val)	TBX15 (I209V +1 more)	Single nucleotide variant (missense variant)	Pelviscapular dysplasia	GUncertain significance
Select item 783944	NM_001330677.2(TBX15):c.519C>T (p.Tyr173=)	TBX15	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 767693	NM_001330677.2(TBX15):c.1477C>G (p.Pro493Ala)	TBX15 (P387A +1 more)	Single nucleotide variant (missense variant)	Pelviscapular dysplasia +1 more	GBenign
Select item 594474	NM_001330677.2(TBX15):c.1697T>G (p.Met566Arg)	TBX15 (M460R +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 593097	NM_001330677.2(TBX15):c.837A>G (p.Thr279=)	TBX15	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 500123	NM_001330677.2(TBX15):c.979C>T (p.Arg327Cys)	TBX15 (R221C +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 289694	NM_001330677.2(TBX15):c.1325G>A (p.Arg442Lys)	TBX15 (R336K +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 287637	NM_001330677.2(TBX15):c.980G>A (p.Arg327His)	TBX15 (R221H +1 more)	Single nucleotide variant (missense variant)	Pelviscapular dysplasia +3 more	GLikely benign
Select item 5823	NM_001330677.2(TBX15):c.1350del (p.Pro451fs)	TBX15 (P345fs +1 more)	Deletion (frameshift variant)	Pelviscapular dysplasia	GPathogenic
Select item 5822	NM_001330677.2(TBX15):c.1348del (p.Ile450fs)	TBX15 (I344fs +1 more)	Deletion (frameshift variant)	Pelviscapular dysplasia	GPathogenic

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Items: 21