ClinVar for MedGen (Select 1798906) - ClinVar

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Items: 37

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2691341	NC_000011.9:g.(64956218_64972153)_(64974291_64975525)del	CAPN1	Deletion	Autosomal recessive spastic paraplegia type 76	GPathogenic
Select item 2584813	NM_005186.4(CAPN1):c.667G>T (p.Glu223Ter)	CAPN1 (E169* +1 more)	Single nucleotide variant (nonsense +1 more)	Autosomal recessive spastic paraplegia type 76	GLikely pathogenic
Select item 2439719	NM_005186.4(CAPN1):c.805G>A (p.Val269Met)	CAPN1 (V215M +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive spastic paraplegia type 76	GUncertain significance
Select item 2439718	NM_005186.4(CAPN1):c.949G>A (p.Val317Met)	CAPN1 (V263M +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive spastic paraplegia type 76	GUncertain significance
Select item 2060731	NM_005186.4(CAPN1):c.911C>T (p.Thr304Met)	CAPN1 (T250M +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1802257	NM_005186.4(CAPN1):c.181_182insC (p.Phe61fs)	CAPN1 (F61fs)	Insertion (frameshift variant +1 more)	Autosomal recessive spastic paraplegia type 76	GPathogenic
Select item 1510947	NM_005186.4(CAPN1):c.221G>A (p.Gly74Asp)	CAPN1 (G74D)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1338393	NM_005186.4(CAPN1):c.843+1G>C	CAPN1	Single nucleotide variant (splice donor variant)	Autosomal recessive spastic paraplegia type 76 +1 more	GPathogenic
Select item 1333654	NM_005186.4(CAPN1):c.532_558del (p.Val178_Phe186del)	CAPN1	Deletion (inframe_deletion +1 more)	Autosomal recessive spastic paraplegia type 76	GUncertain significance
Select item 1325391	NM_005186.4(CAPN1):c.1010C>A (p.Ser337Ter)	CAPN1 (S337*)	Single nucleotide variant (nonsense +1 more)	Autosomal recessive spastic paraplegia type 76	GLikely pathogenic
Select item 1192617	NM_005186.4(CAPN1):c.2059+14A>G	CAPN1, LOC126861236	Single nucleotide variant (intron variant)	Autosomal recessive spastic paraplegia type 76 +1 more	GBenign
Select item 1192616	NM_005186.4(CAPN1):c.1942+77C>T	CAPN1, LOC126861236	Single nucleotide variant (intron variant)	Autosomal recessive spastic paraplegia type 76 +1 more	GBenign
Select item 1192615	NM_005186.4(CAPN1):c.1863+36C>T	CAPN1, LOC126861236	Single nucleotide variant (intron variant)	Autosomal recessive spastic paraplegia type 76 +1 more	GBenign
Select item 1192614	NM_005186.4(CAPN1):c.1341+25A>T	CAPN1	Single nucleotide variant (intron variant)	Autosomal recessive spastic paraplegia type 76 +1 more	GBenign
Select item 1192613	NM_005186.4(CAPN1):c.843+114del	CAPN1	Deletion (intron variant)	Autosomal recessive spastic paraplegia type 76	GBenign
Select item 1192612	NM_005186.4(CAPN1):c.363C>T (p.Ile121=)	CAPN1	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive spastic paraplegia type 76 +1 more	GBenign
Select item 1192611	NM_005186.4(CAPN1):c.338-102A>T	CAPN1	Single nucleotide variant (intron variant)	Autosomal recessive spastic paraplegia type 76 +1 more	GBenign
Select item 1029241	NM_005186.4(CAPN1):c.929+2T>A	CAPN1	Single nucleotide variant (splice donor variant)	Autosomal recessive spastic paraplegia type 76	GLikely pathogenic
Select item 986752	NM_005186.4(CAPN1):c.1969G>T (p.Glu657Ter)	CAPN1, LOC126861236 (E657*)	Single nucleotide variant (nonsense +1 more)	Autosomal recessive spastic paraplegia type 76 +1 more	GPathogenic/Likely pathogenic
Select item 986751	NM_005186.4(CAPN1):c.1697dup (p.Leu566fs)	CAPN1 (L566fs)	Duplication (frameshift variant +1 more)	Autosomal recessive spastic paraplegia type 76	GPathogenic
Select item 986750	NM_005186.4(CAPN1):c.1418_1419del (p.Arg473fs)	CAPN1 (R473fs)	Microsatellite (frameshift variant +1 more)	Autosomal recessive spastic paraplegia type 76	GPathogenic
Select item 986749	NM_005186.4(CAPN1):c.1341G>C (p.Glu447Asp)	CAPN1 (E447D)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive spastic paraplegia type 76	GPathogenic
Select item 986748	NM_005186.4(CAPN1):c.1165+1G>A	CAPN1	Single nucleotide variant (splice donor variant)	Autosomal recessive spastic paraplegia type 76	GPathogenic
Select item 986747	NM_005186.4(CAPN1):c.1129_1133del (p.Arg377fs)	CAPN1 (R377fs)	Deletion (frameshift variant +1 more)	Autosomal recessive spastic paraplegia type 76 +1 more	GPathogenic/Likely pathogenic
Select item 986746	NM_005186.4(CAPN1):c.1005G>A (p.Trp335Ter)	CAPN1 (W335*)	Single nucleotide variant (nonsense +1 more)	Autosomal recessive spastic paraplegia type 76 +1 more	GPathogenic/Likely pathogenic
Select item 986745	NM_005186.4(CAPN1):c.623G>A (p.Gly208Asp)	CAPN1 (G208D)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive spastic paraplegia type 76	GPathogenic
Select item 986744	NM_005186.4(CAPN1):c.254G>A (p.Trp85Ter)	CAPN1 (W85*)	Single nucleotide variant (nonsense +1 more)	Autosomal recessive spastic paraplegia type 76	GPathogenic
Select item 974855	NM_005186.4(CAPN1):c.1015C>T (p.Arg339Ter)	CAPN1 (R339*)	Single nucleotide variant (nonsense +1 more)	Autosomal recessive spastic paraplegia type 76	GLikely pathogenic
Select item 802687	NM_005186.4(CAPN1):c.1176G>A (p.Trp392Ter)	CAPN1 (W392*)	Single nucleotide variant (nonsense +1 more)	Autosomal recessive spastic paraplegia type 76 +1 more	GPathogenic
Select item 802686	NM_005186.4(CAPN1):c.618_619del (p.Gly208fs)	CAPN1 (G208fs)	Deletion (frameshift variant +1 more)	Autosomal recessive spastic paraplegia type 76 +1 more	GPathogenic
Select item 617483	NM_005186.4(CAPN1):c.338-1G>A	CAPN1	Single nucleotide variant (splice acceptor variant)	Autosomal recessive spastic paraplegia type 76	GPathogenic
Select item 584446	NM_005186.4(CAPN1):c.1442G>A (p.Arg481Gln)	CAPN1 (R481Q)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive spastic paraplegia type 76	GUncertain significance
Select item 489122	NM_005186.4(CAPN1):c.1153C>T (p.Arg385Ter)	CAPN1 (R385*)	Single nucleotide variant (nonsense +1 more)	Autosomal recessive spastic paraplegia type 76 +1 more	GPathogenic/Likely pathogenic
Select item 225768	NM_005186.4(CAPN1):c.1605+5G>A	CAPN1	Single nucleotide variant (intron variant)	Autosomal recessive spastic paraplegia type 76 +1 more	GPathogenic/Likely pathogenic
Select item 225767	NM_005186.4(CAPN1):c.407del (p.Pro136fs)	CAPN1 (P136fs)	Deletion (frameshift variant +1 more)	Autosomal recessive spastic paraplegia type 76	GPathogenic
Select item 225766	NM_005186.4(CAPN1):c.1579C>T (p.Gln527Ter)	CAPN1 (Q527*)	Single nucleotide variant (nonsense +1 more)	Autosomal recessive spastic paraplegia type 76	GPathogenic
Select item 225765	NM_005186.4(CAPN1):c.884G>C (p.Arg295Pro)	CAPN1 (R295P)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive spastic paraplegia type 76	GPathogenic

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Items: 37