ClinVar for MedGen (Select 815174) - ClinVar

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Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3362746	NM_005430.4(WNT1):c.750C>G (p.Phe250Leu)	WNT1 (F250L)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type 15	GUncertain significance
Select item 3362448	NM_005430.4(WNT1):c.437G>A (p.Gly146Asp)	WNT1 (G146D)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type 15	GLikely pathogenic
Select item 3064878	NM_005430.4(WNT1):c.216dup (p.Arg73fs)	WNT1 (R73fs)	Duplication (frameshift variant)	Osteogenesis imperfecta type 15	GUncertain significance
Select item 2806973	NM_005430.4(WNT1):c.437G>T (p.Gly146Val)	WNT1 (G146V)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2438690	NM_005430.4(WNT1):c.255del (p.Leu86fs)	WNT1 (L86fs)	Deletion (frameshift variant)	Osteogenesis imperfecta type 15	GPathogenic
Select item 2434662	NM_005430.4(WNT1):c.331dup (p.His111fs)	WNT1 (H111fs)	Duplication (frameshift variant)	Osteogenesis imperfecta type 15	GLikely pathogenic
Select item 1687618	NM_005430.4(WNT1):c.893T>G (p.Phe298Cys)	WNT1 (F298C)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type 15	GLikely pathogenic
Select item 1683629	NM_005430.4(WNT1):c.860dup (p.His287fs)	WNT1 (H287fs)	Duplication (frameshift variant)	Osteogenesis imperfecta type 15	GLikely pathogenic
Select item 1332774	NM_005430.4(WNT1):c.506dup (p.Cys170fs)	WNT1 (C170fs)	Duplication (frameshift variant)	Osteogenesis imperfecta type 15 +2 more	GPathogenic
Select item 1332751	NM_000158.4(GBE1):c.1843G>C (p.Ala615Pro)	GBE1 (A615P)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type 15	GLikely pathogenic
Select item 1299523	NM_005430.4(WNT1):c.617G>A (p.Gly206Asp)	WNT1 (G206D)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type 15	GLikely pathogenic
Select item 873444	NM_005430.4(WNT1):c.1060del (p.His354fs)	WNT1 (H354fs)	Deletion (frameshift variant)	Osteogenesis imperfecta type 15	GUncertain significance
Select item 592130	NM_005430.4(WNT1):c.1090C>G (p.Arg364Gly)	WNT1 (R364G)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type 15	GUncertain significance
Select item 488347	NM_005430.4(WNT1):c.104+4_104+44del	WNT1	Deletion (intron variant)	Osteogenesis imperfecta type 15	GLikely pathogenic
Select item 218673	NM_005430.4(WNT1):c.264T>A (p.Ser88Arg)	WNT1 (S88R)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type 15 +4 more	GBenign/Likely benign
Select item 180210	NM_005430.4(WNT1):c.1026del (p.Glu343fs)	WNT1 (E343fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 50262	NM_005430.4(WNT1):c.1063G>T (p.Val355Phe)	WNT1 (V355F)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type 15 +1 more	GConflicting classifications of pathogenicity
Select item 50261	NM_005430.4(WNT1):c.946_949dup (p.Ser317fs)	WNT1 (S317fs)	Duplication (frameshift variant)	Osteogenesis imperfecta type 15	GPathogenic
Select item 50260	NM_005430.4(WNT1):c.884C>A (p.Ser295Ter)	WNT1 (S295*)	Single nucleotide variant (nonsense)	Inborn genetic diseases +1 more	GPathogenic
Select item 50259	NM_005430.4(WNT1):c.565G>T (p.Glu189Ter)	WNT1 (E189*)	Single nucleotide variant (nonsense)	Osteogenesis imperfecta type 15	GPathogenic
Select item 50258	NM_005430.4(WNT1):c.624+4A>G	WNT1	Single nucleotide variant (intron variant)	Osteogenesis imperfecta type 15	GPathogenic
Select item 50257	NM_005430.4(WNT1):c.859dup (p.His287fs)	WNT1 (H287fs)	Duplication (frameshift variant)	Osteogenesis imperfecta type 15 +1 more	GPathogenic; risk factor

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Items: 22