ClinVar for MedGen (Select 2287) - ClinVar

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

Links from MedGen

Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3061822	NM_001355221.1(TUBA4B):c.12+147G>C	TUBA4A, TUBA4B	Single nucleotide variant (intron variant)	Ptosis	GUncertain significance
Select item 2580154	NM_032525.3(TUBB6):c.1153T>A (p.Phe385Ile)	TUBB6 (F239I +4 more)	Single nucleotide variant (missense variant +1 more)	Ptosis	GLikely pathogenic
Select item 812923	NC_000005.10:g.139189727_139201554del	SIL1	Deletion	Global developmental delay +8 more	GPathogenic
Select item 812543	NC_012920.1(MT-TN):m.5702A>G	MT-TN	Single nucleotide variant	Ptosis +1 more	GLikely pathogenic
Select item 692386	NC_012920.1(MT-ND1):m.3670G>A	MT-ND1	Single nucleotide variant	Gait disturbance +6 more	GUncertain significance
Select item 635772	GRCh37/hg19 14q24.1(chr14:68126321-68269053)x3	ARG2, RDH11 +3 more	Copy number gain	Hemangioma +3 more	GUncertain significance
Select item 627565	NM_000168.6(GLI3):c.1622C>T (p.Thr541Met)	GLI3 (T541M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +11 more	GConflicting classifications of pathogenicity
Select item 590777	NM_001378418.1(TCF20):c.3605dup (p.Pro1203fs)	TCF20 (P1203fs)	Duplication (frameshift variant)	Failure to thrive +4 more	GPathogenic
Select item 523250	GRCh37/hg19 15q13.2-13.3(chr15:30366065-32899558)	ARHGAP11B, CHRFAM7A +11 more	Copy number gain	Short attention span +12 more	GPathogenic
Select item 424782	NM_002180.2(IGHMBP2):c.[660A>C];[92G>A]			Autosomal recessive distal spinal muscular atrophy 1	GLikely pathogenic
Select item 411584	NM_006772.3(SYNGAP1):c.2059C>T (p.Arg687Ter)	SYNGAP1, SYNGAP1-AS1 (R687*)	Single nucleotide variant (nonsense)	Pointed chin +15 more	GPathogenic/Likely pathogenic
Select item 374186	NM_000751.3(CHRND):c.822del (p.Ser274fs)	CHRND (S259fs +3 more)	Deletion (frameshift variant)	Ptosis +3 more	GLikely pathogenic
Select item 374185	NM_000751.3(CHRND):c.1385G>T (p.Trp462Leu)	CHRND (W462L +3 more)	Single nucleotide variant (missense variant)	Ptosis +3 more	GLikely pathogenic
Select item 374132	NM_004006.3(DMD):c.10247G>A (p.Trp3416Ter)	DMD (W3416* +8 more)	Single nucleotide variant (nonsense +1 more)	Dilated cardiomyopathy 3B +11 more	GConflicting classifications of pathogenicity
Select item 279678	NM_013275.6(ANKRD11):c.1903_1907del (p.Lys635fs)	ANKRD11 (K635fs)	Microsatellite (frameshift variant)	not provided +11 more	GPathogenic/Likely pathogenic
Select item 268035	46;XX;t(19;21)(q13.3;q22.3)dn		Translocation	Pectus excavatum +22 more	GPathogenic
Select item 242499	NM_002180.3(IGHMBP2):c.92G>A (p.Trp31Ter)	IGHMBP2 (W31*)	Single nucleotide variant (nonsense)	Clonus +8 more	GPathogenic
Select item 214916	NM_130837.3(OPA1):c.113_130del (p.Arg38_Ser43del)	OPA1	Deletion (inframe_deletion +1 more)	not specified +12 more	GConflicting classifications of pathogenicity
Select item 40672	NM_005633.4(SOS1):c.1300G>A (p.Gly434Arg)	SOS1 (G434R +1 more)	Single nucleotide variant (missense variant)	Noonan syndrome 4 +12 more	GPathogenic/Likely pathogenic
Select item 40513	NM_002834.5(PTPN11):c.417G>C (p.Glu139Asp)	PTPN11 (E139D +1 more)	Single nucleotide variant (missense variant)	Noonan syndrome	GPathogenic FDA Recognized database
Select item 12977	NM_000540.3(RYR1):c.6617C>T (p.Thr2206Met)	RYR1 (T2206M)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GPathogenic FDA Recognized database

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: 21