ClinVar for MedGen (Select 78084) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from MedGen

Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1697212	NM_001659.3(ARF3):c.277G>A (p.Asp93Asn)	ARF3 (D93N)	Single nucleotide variant (missense variant)	Neurodevelopmental delay +17 more	GPathogenic/Likely pathogenic
Select item 1691421	NM_025216.3(WNT10A):c.1042C>T (p.Arg348Cys)	WNT10A (R348C)	Single nucleotide variant (missense variant)	Abnormality of the dentition	GUncertain significance
Select item 1691420	NM_025216.3(WNT10A):c.877C>T (p.Arg293Cys)	WNT10A (R293C)	Single nucleotide variant (missense variant)	Abnormality of the dentition	GUncertain significance
Select item 981662	NM_152753.4(SCUBE3):c.2785C>T (p.Arg929Ter)	SCUBE3 (R928* +1 more)	Single nucleotide variant (nonsense)	Short stature +3 more	GPathogenic
Select item 981661	NM_152753.4(SCUBE3):c.2599+2T>C	SCUBE3	Single nucleotide variant (splice donor variant)	Abnormal facial shape +3 more	GPathogenic
Select item 981660	NM_152753.4(SCUBE3):c.2444T>C (p.Ile815Thr)	SCUBE3 (I814T +1 more)	Single nucleotide variant (missense variant)	Short stature +4 more	GPathogenic/Likely pathogenic
Select item 981659	NM_152753.4(SCUBE3):c.2239+1G>A	LOC126859661, SCUBE3	Single nucleotide variant (splice donor variant)	Abnormal facial shape +3 more	GPathogenic
Select item 981658	NM_152753.4(SCUBE3):c.1717C>T (p.Arg573Ter)	SCUBE3 (R572* +1 more)	Single nucleotide variant (nonsense)	Short stature +3 more	GPathogenic
Select item 981657	NM_152753.4(SCUBE3):c.829+3_952+2del	SCUBE3, LOC123620094	Deletion (splice acceptor variant +1 more)	Short stature +3 more	GPathogenic
Select item 981656	NM_152753.4(SCUBE3):c.611G>A (p.Gly204Asp)	SCUBE3 (G203D +1 more)	Single nucleotide variant (missense variant)	Short stature +3 more	GPathogenic
Select item 981655	NM_152753.4(SCUBE3):c.291C>G (p.Cys97Trp)	SCUBE3 (C97W)	Single nucleotide variant (missense variant)	Short stature +3 more	GPathogenic
Select item 617640	NM_001110556.2(FLNA):c.3934C>T (p.Arg1312Cys)	FLNA (R1312C)	Single nucleotide variant (missense variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 599000	NM_000494.4(COL17A1):c.4145_4148del (p.Glu1382fs)	COL17A1 (E1382fs)	Microsatellite (frameshift variant)	COL17A1-related disorder +16 more	GPathogenic
Select item 523435	NM_019023.5(PRMT7):c.322G>T (p.Glu108Ter)	PRMT7 (E108* +2 more)	Single nucleotide variant (nonsense +2 more)	Short stature-brachydactyly-obesity-global developmental delay syndrome +17 more	GPathogenic/Likely pathogenic
Select item 523434	NM_019023.5(PRMT7):c.1713C>A (p.Cys571Ter)	PRMT7 (C571* +4 more)	Single nucleotide variant (nonsense +1 more)	Acanthosis nigricans +14 more	GPathogenic
Select item 523423	NM_001172509.2(SATB2):c.1654_1655del (p.Arg552fs)	SATB2 (R552fs)	Microsatellite (frameshift variant)	not provided +6 more	GPathogenic
Select item 424786	NM_000243.2(MEFV):c.[2084A>G];[2230G>T]			Familial Mediterranean fever	GLikely pathogenic
Select item 279598	NM_001282531.3(ADNP):c.2188C>T (p.Arg730Ter)	ADNP (R730*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 267892	46;XX;t(4;14)(p15.2;q13)dn		Translocation	Clinodactyly of the 5th finger +14 more	GLikely pathogenic
Select item 267831	46;Y;inv(X)(q27q28)		Inversion	Macroorchidism +14 more	GUncertain significance
Select item 267815	46;X;t(X;5)(p11.23;q35)dn		Translocation	High myopia +14 more	GPathogenic
Select item 265112	NM_001399.5(EDA):c.1069C>T (p.Arg357Trp)	EDA (R357W +2 more)	Single nucleotide variant (missense variant)	Abnormality of the dentition +2 more	GPathogenic/Likely pathogenic
Select item 17463	NM_000094.4(COL7A1):c.6205C>T (p.Arg2069Cys)	COL7A1 (R2069C)	Single nucleotide variant (missense variant)	Decreased body weight +23 more	GPathogenic/Likely pathogenic
Select item 17462	NM_000094.4(COL7A1):c.706C>T (p.Arg236Ter)	COL7A1 (R236*)	Single nucleotide variant (nonsense)	not provided +15 more	GPathogenic
Select item 2547	NM_000243.3(MEFV):c.2084A>G (p.Lys695Arg)	LOC126862264, MEFV (K695R)	Single nucleotide variant (missense variant +1 more)	not specified +9 more	GConflicting classifications of pathogenicity
Select item 2276	NM_014874.4(MFN2):c.280C>T (p.Arg94Trp)	MFN2 (R94W)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +19 more	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from MedGen

Items: 26