ClinVar for MedGen (Select 868940) - ClinVar

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

Links from MedGen

Items: 39

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1180843	NM_025137.4(SPG11):c.6520_6521del (p.Tyr2174fs)	SPG11 (Y2061fs +1 more)	Deletion (frameshift variant)	Abnormal central motor function	GPathogenic
Select item 1180842	NM_025137.4(SPG11):c.3687_3688insC (p.Ile1230fs)	SPG11 (I1230fs)	Insertion (frameshift variant)	Abnormal central motor function +3 more	GPathogenic/Likely pathogenic
Select item 1180777	NM_025137.4(SPG11):c.5510T>G (p.Leu1837Ter)	SPG11 (L1837*)	Single nucleotide variant (nonsense)	Abnormal central motor function	GLikely pathogenic
Select item 1180768	NM_015346.4(ZFYVE26):c.6707del (p.Lys2236fs)	ZFYVE26 (K2236fs)	Deletion (frameshift variant)	Abnormal central motor function	GLikely pathogenic
Select item 1180755	NM_000161.3(GCH1):c.263G>T (p.Arg88Leu)	GCH1 (R88L)	Single nucleotide variant (missense variant)	Abnormal central motor function +1 more	GLikely pathogenic
Select item 1180751	NM_000051.4(ATM):c.7940_7970del (p.Ile2647fs)	ATM, C11orf65 (I2647fs)	Deletion (frameshift variant +1 more)	Abnormal central motor function	GLikely pathogenic
Select item 1180696	NM_020919.4(ALS2):c.691C>T (p.Arg231Ter)	ALS2 (R231*)	Single nucleotide variant (nonsense)	Abnormal central motor function	GLikely pathogenic
Select item 1180691	NM_015346.4(ZFYVE26):c.6197G>A (p.Trp2066Ter)	ZFYVE26 (W2066*)	Single nucleotide variant (nonsense)	Abnormal central motor function	GLikely pathogenic
Select item 1180686	NM_006612.6(KIF1C):c.1996G>T (p.Glu666Ter)	KIF1C, LOC126862473 (E666*)	Single nucleotide variant (nonsense)	Abnormal central motor function	GPathogenic
Select item 1180685	NM_025137.4(SPG11):c.6811_6812del (p.Leu2271fs)	SPG11 (L2158fs +1 more)	Microsatellite (frameshift variant)	Abnormal central motor function +1 more	GPathogenic
Select item 1180678	NM_020919.4(ALS2):c.1640+1G>A	ALS2	Single nucleotide variant (splice donor variant)	Abnormal central motor function +2 more	GPathogenic/Likely pathogenic
Select item 1180666	NM_025137.4(SPG11):c.5473C>T (p.Gln1825Ter)	SPG11 (Q1825*)	Single nucleotide variant (nonsense)	Abnormal central motor function	GLikely pathogenic
Select item 1180664	NM_000370.3(TTPA):c.798del (p.Glu267fs)	TTPA (E267fs)	Deletion (frameshift variant)	Abnormal central motor function	GLikely pathogenic
Select item 1180646	NM_000051.4(ATM):c.4572del (p.Ile1525fs)	ATM (I1525fs)	Deletion (frameshift variant)	Abnormal central motor function	GLikely pathogenic
Select item 1180643	NM_015346.4(ZFYVE26):c.175del (p.Val59fs)	ZFYVE26 (V59fs)	Deletion (frameshift variant)	Abnormal central motor function	GLikely pathogenic
Select item 1180639	NM_014363.6(SACS):c.7134T>G (p.Tyr2378Ter)	SACS (Y2231* +1 more)	Single nucleotide variant (nonsense)	Abnormal central motor function	GPathogenic
Select item 1180620	NM_182961.4(SYNE1):c.21985_21986del (p.Leu7329fs)	SYNE1 (L7258fs +1 more)	Deletion (frameshift variant)	Abnormal central motor function	GLikely pathogenic
Select item 1098922	NM_014363.6(SACS):c.3281dup (p.Asn1094fs)	SACS (N1094fs +1 more)	Duplication (frameshift variant)	Spastic paraplegia +2 more	GPathogenic/Likely pathogenic
Select item 946100	NM_000051.4(ATM):c.6629del (p.Gln2210fs)	ATM, C11orf65 (Q2210fs)	Deletion (frameshift variant +1 more)	Abnormal central motor function +3 more	GPathogenic
Select item 819185	NM_000051.4(ATM):c.1464G>A (p.Trp488Ter)	ATM (W488*)	Single nucleotide variant (nonsense)	Ataxia-telangiectasia syndrome +4 more	GConflicting classifications of pathogenicity
Select item 634443	NM_031448.6(C19orf12):c.371dup (p.Met124fs)	C19orf12 (C106fs +2 more)	Duplication (frameshift variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 479048	NM_000051.4(ATM):c.8050C>T (p.Gln2684Ter)	ATM, C11orf65 (Q2684*)	Single nucleotide variant (nonsense +1 more)	Familial cancer of breast +4 more	GPathogenic
Select item 449831	NM_182961.4(SYNE1):c.21148C>T (p.Arg7050Ter)	SYNE1 (R6979* +1 more)	Single nucleotide variant (nonsense)	Abnormal central motor function +1 more	GPathogenic/Likely pathogenic
Select item 448333	NM_015046.7(SETX):c.5308_5311del (p.Glu1770fs)	SETX (E1770fs)	Microsatellite (frameshift variant)	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 +5 more	GPathogenic/Likely pathogenic
Select item 240950	NM_014946.4(SPAST):c.1496G>A (p.Arg499His)	SPAST (R499H +3 more)	Single nucleotide variant (missense variant)	not provided +5 more	GPathogenic/Likely pathogenic
Select item 234216	NM_000051.4(ATM):c.829G>T (p.Glu277Ter)	ATM (E277*)	Single nucleotide variant (nonsense)	Abnormal central motor function +4 more	GPathogenic/Likely pathogenic
Select item 221911	NM_000051.4(ATM):c.6198+1G>A	ATM, C11orf65	Single nucleotide variant (splice donor variant +1 more)	Ataxia-telangiectasia syndrome +4 more	GPathogenic/Likely pathogenic
Select item 219999	NM_000051.4(ATM):c.1369C>T (p.Arg457Ter)	ATM (R457*)	Single nucleotide variant (nonsense)	Hereditary cancer-predisposing syndrome +3 more	GPathogenic
Select item 188856	NM_014363.6(SACS):c.2439_2440del (p.Val815fs)	SACS (V815fs +1 more)	Deletion (frameshift variant)	Charlevoix-Saguenay spastic ataxia +3 more	GPathogenic/Likely pathogenic
Select item 187207	NM_000051.4(ATM):c.4852C>T (p.Arg1618Ter)	ATM (R1618*)	Single nucleotide variant (nonsense)	Familial cancer of breast +4 more	GPathogenic
Select item 162016	NM_018075.5(ANO10):c.132dup (p.Asp45fs)	ANO10 (D45fs)	Duplication (frameshift variant)	Autosomal recessive spinocerebellar ataxia 10 +3 more	GPathogenic/Likely pathogenic
Select item 140823	NM_000051.4(ATM):c.6047A>G (p.Asp2016Gly)	ATM, C11orf65 (D2016G)	Single nucleotide variant (missense variant +1 more)	Familial cancer of breast +4 more	GPathogenic/Likely pathogenic
Select item 127459	NM_000051.4(ATM):c.8494C>T (p.Arg2832Cys)	ATM, C11orf65 (R2832C)	Single nucleotide variant (missense variant +1 more)	Familial cancer of breast	GLikely pathogenic FDA Recognized database
Select item 127445	NM_000051.4(ATM):c.7456C>T (p.Arg2486Ter)	ATM, C11orf65 (R2486*)	Single nucleotide variant (nonsense +1 more)	Abnormal central motor function +4 more	GPathogenic/Likely pathogenic
Select item 14768	NM_000454.5(SOD1):c.434T>C (p.Leu145Ser)	SOD1 (L145S)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic
Select item 14767	NM_000454.5(SOD1):c.313A>T (p.Ile105Phe)	SOD1 (I105F)	Single nucleotide variant (missense variant)	Abnormal central motor function	GLikely pathogenic
Select item 4544	NM_001122955.4(BSCL2):c.461C>T (p.Ser154Leu)	BSCL2, HNRNPUL2-BSCL2 (S90L +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Charcot-Marie-Tooth disease type 2 +2 more	GPathogenic/Likely pathogenic
Select item 1117	NM_025137.4(SPG11):c.3075dup (p.Glu1026fs)	SPG11 (E1026fs)	Duplication (frameshift variant)	Amyotrophic lateral sclerosis type 5 +3 more	GPathogenic
Select item 1112	NM_025137.4(SPG11):c.733_734del (p.Met245fs)	SPG11 (M245fs)	Deletion (frameshift variant)	Abnormal central motor function +6 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: 39