ClinVar for PMC (Select 5643959) - ClinVar

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Items: 76

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2165439	NM_007175.8(ERLIN2):c.899A>G (p.Asp300Gly)	ERLIN2 (D300G)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1001813	NM_001244008.2(KIF1A):c.32G>T (p.Arg11Leu)	KIF1A (R11L)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 30 +2 more	GLikely pathogenic
Select item 959955	NM_007175.8(ERLIN2):c.853A>T (p.Lys285Ter)	ERLIN2 (K285*)	Single nucleotide variant (nonsense)	Spastic paraplegia	GPathogenic
Select item 654820	NM_001244008.2(KIF1A):c.32G>A (p.Arg11Gln)	KIF1A (R11Q)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 30 +3 more	GPathogenic/Likely pathogenic
Select item 424800	NM_003119.3(SPG7):c.[1529C>T];[2120delTinsCCAAGTCTGTA]			Hereditary spastic paraplegia 7	GLikely pathogenic
Select item 424697	NM_004984.4(KIF5A):c.572G>A (p.Arg191His)	KIF5A (R191H +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia +1 more	GConflicting classifications of pathogenicity
Select item 424696	NM_025137.4(SPG11):c.2486T>G (p.Val829Gly)	SPG11 (V829G)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia	GUncertain significance
Select item 424695	NM_014855.3(AP5Z1):c.272G>A (p.Arg91Gln)	AP5Z1 (R91Q)	Single nucleotide variant (missense variant +2 more)	Hereditary spastic paraplegia 48 +2 more	GUncertain significance
Select item 424694	NM_003119.4(SPG7):c.1442C>T (p.Thr481Met)	SPG7 (T481M)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia +2 more	GUncertain significance
Select item 424693	NM_014855.3(AP5Z1):c.2014G>A (p.Glu672Lys)	AP5Z1 (E672K +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia +1 more	GUncertain significance
Select item 424692	NM_015046.7(SETX):c.3826C>G (p.Gln1276Glu)	SETX (Q1276E)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 +4 more	GConflicting classifications of pathogenicity
Select item 424691	NM_001368809.2(AMPD2):c.1180G>A (p.Val394Met)	AMPD2, LOC126805822 (V330M +3 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia +2 more	GUncertain significance
Select item 424690	NM_015346.4(ZFYVE26):c.2183G>A (p.Arg728Gln)	ZFYVE26 (R728Q)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia +1 more	GUncertain significance
Select item 424689	NM_001012301.4(ARSI):c.1456C>T (p.Arg486Cys)	ARSI (R486C)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia	GUncertain significance
Select item 424688	NM_014855.3(AP5Z1):c.2053C>T (p.Arg685Cys)	AP5Z1 (R685C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 424687	NM_015046.7(SETX):c.3229G>A (p.Asp1077Asn)	SETX (D1077N)	Single nucleotide variant (missense variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 424686	NM_002361.4(MAG):c.452C>T (p.Ala151Val)	MAG (A151V +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 424685	NM_006517.5(SLC16A2):c.377C>A (p.Ser126Tyr)	SLC16A2 (S126Y)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia	GUncertain significance
Select item 424684	NM_001003800.2(BICD2):c.761A>G (p.Lys254Arg)	BICD2 (K254R)	Single nucleotide variant (missense variant)	Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures +1 more	GConflicting classifications of pathogenicity
Select item 424683	NM_138368.5(AP5B1):c.1791G>C (p.Gln597His)	AP5B1 (Q597H)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia	GUncertain significance
Select item 424681	NM_004990.4(MARS1):c.-18C>T	ARHGAP9, MARS1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 424680	NM_002361.4(MAG):c.1646C>T (p.Ser549Leu)	MAG (S549L +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia +1 more	GUncertain significance
Select item 424679	NM_013280.5(FLRT1):c.1591G>A (p.Asp531Asn)	FLRT1, MACROD1 (D531N +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia	GUncertain significance
Select item 424678	NM_001253852.3(AP4B1):c.1114+29G>C	AP4B1, AP4B1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary spastic paraplegia	GUncertain significance
Select item 424677	NM_002361.4(MAG):c.1117A>C (p.Ser373Arg)	MAG (S373R +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia +1 more	GUncertain significance
Select item 424676	NM_006612.6(KIF1C):c.2591G>A (p.Arg864His)	KIF1C (R864H)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia +3 more	GUncertain significance
Select item 424675	NM_006612.6(KIF1C):c.1111G>A (p.Ala371Thr)	KIF1C (A371T)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 424674	NM_006612.6(KIF1C):c.2299G>A (p.Gly767Arg)	KIF1C (G767R)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 424673	NM_001122955.4(BSCL2):c.895G>A (p.Ala299Thr)	BSCL2, HNRNPUL2-BSCL2 (A235T +1 more)	Single nucleotide variant (missense variant +2 more)	Hereditary spastic paraplegia +1 more	GUncertain significance
Select item 424672	NM_001012301.4(ARSI):c.1114G>A (p.Asp372Asn)	ARSI (D372N)	Single nucleotide variant (missense variant)	Spastic paraplegia +1 more	GUncertain significance
Select item 424671	NM_014855.3(AP5Z1):c.838A>C (p.Thr280Pro)	AP5Z1 (T280P +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 48 +3 more	GUncertain significance
Select item 424670	NM_014855.3(AP5Z1):c.1111G>A (p.Ala371Thr)	AP5Z1 (A371T +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia	GUncertain significance
Select item 424669	NM_138368.5(AP5B1):c.2089T>C (p.Phe697Leu)	AP5B1 (F697L)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia	GUncertain significance
Select item 424668	NM_138368.5(AP5B1):c.1201C>T (p.Leu401Phe)	AP5B1 (L401F)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia +1 more	GUncertain significance
Select item 424667	NM_001122955.4(BSCL2):c.809G>T (p.Arg270Leu)	HNRNPUL2-BSCL2, BSCL2 (R206L +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary spastic paraplegia	GUncertain significance
Select item 424666	NM_002156.5(HSPD1):c.551A>G (p.Asn184Ser)	HSPD1 (N184S)	Single nucleotide variant (missense variant)	Spastic paraplegia +1 more	GUncertain significance
Select item 424665	NM_020839.4(WDR48):c.280T>G (p.Ser94Ala)	WDR48 (S94A +3 more)	Single nucleotide variant (missense variant +3 more)	not provided +1 more	GUncertain significance
Select item 424664	NM_012073.5(CCT5):c.487G>A (p.Glu163Lys)	CCT5 (E163K +4 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia +1 more	GUncertain significance
Select item 424663	NM_001368809.2(AMPD2):c.488G>C (p.Arg163Pro)	AMPD2 (R136P +3 more)	Single nucleotide variant (missense variant)	Pontocerebellar hypoplasia type 9 +3 more	GUncertain significance
Select item 424662	NM_004722.4(AP4M1):c.607-2A>G	AP4M1	Single nucleotide variant (splice acceptor variant)	Hereditary spastic paraplegia +1 more	GConflicting classifications of pathogenicity
Select item 424661	NM_015046.7(SETX):c.4711G>A (p.Val1571Met)	SETX (V1571M)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia	GUncertain significance
Select item 424660	NM_001371279.1(REEP1):c.58G>C (p.Ala20Pro)	REEP1 (A20P +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia	GLikely pathogenic
Select item 424659	NM_004984.4(KIF5A):c.868G>C (p.Asp290His)	KIF5A (D290H +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia	GLikely pathogenic
Select item 424658	NM_004984.4(KIF5A):c.833C>T (p.Pro278Leu)	KIF5A (P278L +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia +1 more	GPathogenic/Likely pathogenic
Select item 424657	NM_014363.5:c.[1640C>T;1634G>T]	SACS (P547L +3 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia	GLikely pathogenic
Select item 424656	NM_007175.8(ERLIN2):c.899A>T (p.Asp300Val)	ERLIN2 (D300V)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 424655	NM_025137.3(SPG11):c.(2244+1_2245-1)_(2620+1_2621-1)del	SPG11	Deletion	Hereditary spastic paraplegia	GPathogenic
Select item 424654	NM_003119.4(SPG7):c.376G>C (p.Glu126Gln)	SPG7 (E126Q)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia +2 more	GPathogenic/Likely pathogenic
Select item 424653	NM_014946.4(SPAST):c.1133T>A (p.Leu378Gln)	SPAST (L378Q +3 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia	GPathogenic
Select item 424652	NM_001244008.2(KIF1A):c.31C>T (p.Arg11Trp)	KIF1A (R11W)	Single nucleotide variant (missense variant)	not provided +5 more	GPathogenic/Likely pathogenic
Select item 424651	NM_004984.4(KIF5A):c.610C>T (p.Arg204Trp)	KIF5A (R204W +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 424650	NM_015346.4(ZFYVE26):c.6296dup (p.Asn2100fs)	ZFYVE26 (N2100fs)	Duplication (frameshift variant)	Spastic paraplegia +2 more	GPathogenic
Select item 424649	NM_004820.5(CYP7B1):c.914dup (p.Met305fs)	CYP7B1 (M305fs)	Duplication (frameshift variant)	Hereditary spastic paraplegia	GPathogenic
Select item 412225	NM_020919.4(ALS2):c.3746T>C (p.Phe1249Ser)	ALS2 (F1249S)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia +2 more	GUncertain significance
Select item 411680	NM_003119.4(SPG7):c.1450-1_1457del	SPG7	Deletion (splice acceptor variant)	not provided +10 more	GPathogenic
Select item 390378	NM_003119.4(SPG7):c.1447C>T (p.Gln483Ter)	SPG7 (Q483*)	Single nucleotide variant (nonsense)	Hereditary spastic paraplegia +2 more	GPathogenic/Likely pathogenic
Select item 371545	NM_014363.6(SACS):c.5629C>T (p.Arg1877Ter)	SACS (R1877* +1 more)	Single nucleotide variant (nonsense)	Charlevoix-Saguenay spastic ataxia +1 more	GPathogenic/Likely pathogenic
Select item 333592	NM_020919.4(ALS2):c.3206G>A (p.Gly1069Glu)	ALS2 (G1069E)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis +5 more	GConflicting classifications of pathogenicity
Select item 332237	NM_000817.3(GAD1):c.1252G>T (p.Val418Phe)	GAD1 (V418F)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia +3 more	GConflicting classifications of pathogenicity
Select item 282385	NM_014363.6(SACS):c.1373C>T (p.Thr458Ile)	SACS (T458I +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia +4 more	GConflicting classifications of pathogenicity
Select item 235235	NM_001003800.2(BICD2):c.269A>G (p.Lys90Arg)	BICD2 (K90R)	Single nucleotide variant (missense variant)	Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures +4 more	GConflicting classifications of pathogenicity
Select item 215194	NM_003119.4(SPG7):c.1933T>A (p.Ser645Thr)	SPG7 (S645T)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 209167	NM_006612.6(KIF1C):c.2734C>T (p.Arg912Trp)	KIF1C (R912W)	Single nucleotide variant (missense variant)	Spastic ataxia 2 +2 more	GConflicting classifications of pathogenicity
Select item 193707	NM_014363.6(SACS):c.13717A>C (p.Asn4573His)	SACS (N4573H +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 193496	NM_144599.5(NIPA1):c.24GGC[10] (p.Ala15_Ala16dup)	LOC130056709, NIPA1	Microsatellite (inframe_insertion +1 more)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 183298	NM_031448.6(C19orf12):c.124G>A (p.Gly42Arg)	C19orf12 (G42R +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 130365	NM_025137.4(SPG11):c.3818A>G (p.Lys1273Arg)	SPG11 (K1273R)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 11 +3 more	GConflicting classifications of pathogenicity
Select item 42016	NM_003119.4(SPG7):c.1529C>T (p.Ala510Val)	SPG7 (A510V)	Single nucleotide variant (missense variant)	not provided +11 more	GPathogenic/Likely pathogenic
Select item 41490	NM_020944.3(GBA2):c.2618G>A (p.Arg873His)	GBA2 (R873H)	Single nucleotide variant (3 prime UTR variant +1 more)	Hereditary spastic paraplegia 46 +1 more	GPathogenic/Likely pathogenic
Select item 41485	NM_020944.3(GBA2):c.1888C>T (p.Arg630Trp)	GBA2 (R630W)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 46 +1 more	GPathogenic/Likely pathogenic
Select item 37130	NM_004984.4(KIF5A):c.839G>A (p.Arg280His)	KIF5A (R280H +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 10 +4 more	GPathogenic/Likely pathogenic
Select item 6807	NM_004984.4(KIF5A):c.838C>T (p.Arg280Cys)	KIF5A (R280C +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia +3 more	GPathogenic/Likely pathogenic
Select item 6107	NM_004820.5(CYP7B1):c.1456C>T (p.Arg486Cys)	CYP7B1 (R486C)	Single nucleotide variant (missense variant +1 more)	Spastic paraplegia +4 more	GPathogenic/Likely pathogenic
Select item 6105	NM_004820.5(CYP7B1):c.825T>A (p.Tyr275Ter)	CYP7B1 (Y275*)	Single nucleotide variant (nonsense)	Hereditary spastic paraplegia +3 more	GPathogenic
Select item 2523	NM_144599.5(NIPA1):c.316G>A (p.Gly106Arg)	NIPA1 (G106R +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia +2 more	GPathogenic
Select item 1112	NM_025137.4(SPG11):c.733_734del (p.Met245fs)	SPG11 (M245fs)	Deletion (frameshift variant)	Charcot-Marie-Tooth disease axonal type 2X +6 more	GPathogenic

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Items: 76