ClinVar for MedGen (Select 342431) - ClinVar

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Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2572449	NM_021939.4(FKBP10):c.138C>G (p.Ile46Met)	FKBP10 (I46M)	Single nucleotide variant (missense variant)	Bruck syndrome 1	GUncertain significance
Select item 1687196	NM_021939.4(FKBP10):c.124G>T (p.Glu42Ter)	FKBP10 (E42*)	Single nucleotide variant (nonsense)	Bruck syndrome 1	GPathogenic
Select item 1683709	NM_021939.4(FKBP10):c.179A>C (p.Gln60Pro)	FKBP10 (Q60P)	Single nucleotide variant (missense variant)	Bruck syndrome 1	GLikely pathogenic
Select item 1360202	NM_021939.4(FKBP10):c.1003A>G (p.Met335Val)	FKBP10 (M335V)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 982765	NM_021939.4(FKBP10):c.1149G>T (p.Arg383Ser)	FKBP10 (R383S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 764420	NM_021939.4(FKBP10):c.1256+8C>G	FKBP10	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 720059	NM_021939.4(FKBP10):c.1546G>A (p.Glu516Lys)	FKBP10 (E516K)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 631496	NM_021939.4(FKBP10):c.890_897dup (p.Gly300Ter)	FKBP10 (G300*)	Duplication (nonsense)	Bruck syndrome 1	GPathogenic
Select item 438659	NM_021939.4(FKBP10):c.831dup (p.Gly278fs)	FKBP10 (G278fs)	Duplication (frameshift variant)	Osteogenesis imperfecta type 11 +6 more	GPathogenic
Select item 323192	NM_021939.4(FKBP10):c.1256+14G>C	FKBP10	Single nucleotide variant (intron variant)	Osteogenesis imperfecta type 11 +2 more	GBenign/Likely benign
Select item 323191	NM_021939.4(FKBP10):c.1256+17dup	FKBP10	Duplication (intron variant)	Bruck syndrome 1 +4 more	GBenign/Likely benign
Select item 323183	NM_021939.4(FKBP10):c.520G>A (p.Gly174Ser)	FKBP10 (G174S)	Single nucleotide variant (missense variant)	Bruck syndrome 1 +3 more	GConflicting classifications of pathogenicity
Select item 208427	NM_021939.4(FKBP10):c.877_879del (p.Tyr293del)	FKBP10 (Y293del)	Deletion (inframe_deletion)	not provided +1 more	GPathogenic
Select item 197451	NM_000089.4(COL1A2):c.2693G>T (p.Gly898Val)	COL1A2 (G898V)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 193735	NM_021939.4(FKBP10):c.1667G>A (p.Arg556His)	FKBP10 (R556H)	Single nucleotide variant (missense variant)	Bruck syndrome 1 +3 more	GUncertain significance
Select item 41473	NM_021939.4(FKBP10):c.337G>A (p.Glu113Lys)	FKBP10 (E113K)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 41425	NM_021939.4(FKBP10):c.1271_1272delinsA (p.Ala424fs)	FKBP10 (A424fs)	Indel (frameshift variant)	Bruck syndrome 1 +1 more	GPathogenic
Select item 30635	NM_021939.4(FKBP10):c.743dup (p.Gln249fs)	FKBP10 (Q249fs)	Duplication (frameshift variant)	Osteogenesis imperfecta type 11	GPathogenic
Select item 30634	NM_021939.4(FKBP10):c.344G>A (p.Arg115Gln)	FKBP10 (R115Q)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 30633	NM_021939.4(FKBP10):c.1276dup (p.Gln426fs)	FKBP10 (Q426fs)	Duplication (frameshift variant)	Osteogenesis imperfecta type 11 +1 more	GPathogenic
Select item 30631	NM_021939.4(FKBP10):c.1016_1023dup (p.Thr342fs)	FKBP10 (T342fs)	Duplication (frameshift variant)	Bruck syndrome 1 +1 more	GPathogenic

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Links from MedGen

Items: 21