ClinVar for MedGen (Select 1800404) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3248493	NC_000019.9:g.(?_50195510)_(50195670_?)dup	CPT1C	Duplication	Hereditary spastic paraplegia 73	GUncertain significance
Select item 3027450	NM_001199753.2(CPT1C):c.1045C>T (p.Arg349Ter)	CPT1C (R338* +2 more)	Single nucleotide variant (nonsense +1 more)	Hereditary spastic paraplegia 73	GLikely pathogenic
Select item 3023091	NM_001199753.2(CPT1C):c.2268G>A (p.Leu756=)	CPT1C	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia 73	GLikely benign
Select item 3021850	NM_001199753.2(CPT1C):c.2365C>T (p.Arg789Cys)	CPT1C (R744C +4 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 73	GUncertain significance
Select item 3021656	NM_001199753.2(CPT1C):c.1736G>A (p.Arg579Lys)	CPT1C (R579K +2 more)	Single nucleotide variant (missense variant +2 more)	Hereditary spastic paraplegia 73	GUncertain significance
Select item 3008997	NM_001199753.2(CPT1C):c.598G>A (p.Asp200Asn)	CPT1C (D200N)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3006787	NM_001199753.2(CPT1C):c.26G>A (p.Gly9Asp)	CPT1C (G9D)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 73	GUncertain significance
Select item 3005029	NM_001199753.2(CPT1C):c.1523C>T (p.Thr508Ile)	CPT1C (T497I +2 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 73	GLikely benign
Select item 2996504	NM_001199753.2(CPT1C):c.1160+5GGGTCAG[2]	CPT1C	Microsatellite (intron variant)	Hereditary spastic paraplegia 73	GLikely benign
Select item 2992905	NM_001199753.2(CPT1C):c.506G>A (p.Arg169His)	CPT1C (R169H)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 73	GUncertain significance
Select item 2990371	NM_001199753.2(CPT1C):c.51C>A (p.Asp17Glu)	CPT1C (D17E)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 73	GUncertain significance
Select item 2990264	NM_001199753.2(CPT1C):c.685T>G (p.Ser229Ala)	CPT1C (S229A)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 73	GUncertain significance
Select item 2982849	NM_001199753.2(CPT1C):c.180C>T (p.Leu60=)	CPT1C	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia 73	GLikely benign
Select item 2981197	NM_001199753.2(CPT1C):c.1995C>G (p.His665Gln)	CPT1C (H654Q +4 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 73	GUncertain significance
Select item 2975356	NM_001199753.2(CPT1C):c.955G>T (p.Val319Phe)	CPT1C (V319F +2 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 73	GUncertain significance
Select item 2968157	NM_001199753.2(CPT1C):c.862C>T (p.Arg288Cys)	CPT1C (R277C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 2919718	NM_001199753.2(CPT1C):c.1732-5C>T	CPT1C	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 73	GUncertain significance
Select item 2915442	NM_001199753.2(CPT1C):c.350C>T (p.Ala117Val)	CPT1C (A117V)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 73	GUncertain significance
Select item 2912888	NM_001199753.2(CPT1C):c.1120C>T (p.Pro374Ser)	CPT1C (P374S +2 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 73	GUncertain significance
Select item 2909445	NM_001199753.2(CPT1C):c.709G>A (p.Glu237Lys)	CPT1C (E237K)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 73	GUncertain significance
Select item 2909151	NM_001199753.2(CPT1C):c.1837G>C (p.Val613Leu)	CPT1C (V613L +2 more)	Single nucleotide variant (missense variant +2 more)	Hereditary spastic paraplegia 73	GUncertain significance
Select item 2904729	NM_001199753.2(CPT1C):c.1266G>A (p.Ala422=)	CPT1C	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia 73	GUncertain significance
Select item 2902749	NM_001199753.2(CPT1C):c.693+18C>T	CPT1C	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 73	GLikely benign
Select item 2892128	NM_001199753.2(CPT1C):c.357C>T (p.Ile119=)	CPT1C	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia 73	GLikely benign
Select item 2873540	NM_001199753.2(CPT1C):c.1028G>T (p.Arg343Leu)	CPT1C (R365L +2 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 73	GUncertain significance
Select item 2867703	NM_001199753.2(CPT1C):c.1793G>A (p.Arg598Gln)	CPT1C (R587Q +2 more)	Single nucleotide variant (missense variant +2 more)	Hereditary spastic paraplegia 73	GUncertain significance
Select item 2867047	NM_001199753.2(CPT1C):c.2178T>A (p.Asp726Glu)	CPT1C (D670E +4 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 73	GUncertain significance
Select item 2866399	NM_001199753.2(CPT1C):c.1167G>A (p.Thr389=)	CPT1C	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia 73 +1 more	GLikely benign
Select item 2864658	NM_001199753.2(CPT1C):c.1650A>G (p.Leu550=)	CPT1C	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia 73	GLikely benign
Select item 2863527	NM_001199753.2(CPT1C):c.111C>T (p.Arg37=)	CPT1C	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia 73	GLikely benign
Select item 2862151	NM_001199753.2(CPT1C):c.1386G>A (p.Gly462=)	CPT1C	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia 73	GLikely benign
Select item 2859423	NM_001199753.2(CPT1C):c.274C>A (p.Pro92Thr)	CPT1C (P92T)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 73	GUncertain significance
Select item 2857900	NM_001199753.2(CPT1C):c.2309G>A (p.Arg770His)	CPT1C (R714H +4 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 73	GUncertain significance
Select item 2853297	NM_001199753.2(CPT1C):c.793A>C (p.Thr265Pro)	CPT1C (T265P)	Single nucleotide variant (missense variant +2 more)	Hereditary spastic paraplegia 73	GLikely benign
Select item 2849230	NM_001199753.2(CPT1C):c.795G>A (p.Thr265=)	CPT1C	Single nucleotide variant (synonymous variant +2 more)	Hereditary spastic paraplegia 73	GLikely benign
Select item 2844654	NM_001199753.2(CPT1C):c.1893C>T (p.Arg631=)	CPT1C	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia 73	GBenign
Select item 2841284	NM_001199753.2(CPT1C):c.539A>G (p.Gln180Arg)	CPT1C (Q180R)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 73	GUncertain significance
Select item 2835901	NM_001199753.2(CPT1C):c.420C>T (p.His140=)	CPT1C	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia 73 +1 more	GLikely benign
Select item 2831950	NM_001199753.2(CPT1C):c.694-2A>G	CPT1C	Single nucleotide variant (splice acceptor variant)	Hereditary spastic paraplegia 73	GLikely pathogenic
Select item 2814686	NM_001199753.2(CPT1C):c.1160+13G>C	CPT1C	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 73	GLikely benign
Select item 2810598	NM_001199753.2(CPT1C):c.1800G>A (p.Glu600=)	CPT1C	Single nucleotide variant (synonymous variant +2 more)	Hereditary spastic paraplegia 73	GLikely benign
Select item 2801355	NM_001199753.2(CPT1C):c.2225C>T (p.Thr742Met)	CPT1C (T764M +4 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 73	GUncertain significance
Select item 2797346	NM_001199753.2(CPT1C):c.771+11G>A	CPT1C	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 73	GLikely benign
Select item 2789666	NM_001199753.2(CPT1C):c.363A>G (p.Thr121=)	CPT1C	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia 73	GLikely benign
Select item 2778904	NM_001199753.2(CPT1C):c.547G>T (p.Val183Leu)	CPT1C (V183L)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 73	GUncertain significance
Select item 2761309	NM_001199753.2(CPT1C):c.312C>T (p.Val104=)	CPT1C	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia 73	GLikely benign
Select item 2758873	NM_001199753.2(CPT1C):c.1938C>T (p.Ser646=)	CPT1C	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia 73	GLikely benign
Select item 2744782	NM_001199753.2(CPT1C):c.305G>A (p.Arg102Gln)	CPT1C (R102Q)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 2741897	NM_001199753.2(CPT1C):c.1570C>T (p.His524Tyr)	CPT1C (H546Y +2 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 73	GUncertain significance
Select item 2738765	NM_001199753.2(CPT1C):c.2301T>C (p.His767=)	CPT1C	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia 73	GLikely benign
Select item 2733165	NM_001199753.2(CPT1C):c.1735_1736del (p.Arg579fs)	CPT1C (R579fs +2 more)	Deletion (frameshift variant +2 more)	Hereditary spastic paraplegia 73	GPathogenic
Select item 2732813	NM_001199753.2(CPT1C):c.1920G>C (p.Leu640=)	CPT1C	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia 73	GLikely benign
Select item 2732610	NM_001199753.2(CPT1C):c.1866+13C>T	CPT1C	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 73	GLikely benign
Select item 2731434	NM_001199753.2(CPT1C):c.1013G>A (p.Arg338Gln)	CPT1C (R327Q +2 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 73	GUncertain significance
Select item 2728929	NM_001199753.2(CPT1C):c.110G>A (p.Arg37His)	CPT1C (R37H)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 73	GUncertain significance
Select item 2723049	NM_001199753.2(CPT1C):c.532T>C (p.Ser178Pro)	CPT1C (S178P)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 73	GUncertain significance
Select item 2722957	NM_001199753.2(CPT1C):c.558C>A (p.Tyr186Ter)	CPT1C (Y186*)	Single nucleotide variant (nonsense +1 more)	Hereditary spastic paraplegia 73	GPathogenic
Select item 2722921	NM_001199753.2(CPT1C):c.1166C>T (p.Thr389Met)	CPT1C (T389M +2 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 73	GUncertain significance
Select item 2721548	NM_001199753.2(CPT1C):c.141+19C>T	CPT1C	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 73	GLikely benign
Select item 2720783	NM_001199753.2(CPT1C):c.1221G>A (p.Ala407=)	CPT1C	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia 73	GLikely benign
Select item 2718544	NM_001199753.2(CPT1C):c.1802C>T (p.Thr601Met)	CPT1C (T623M +2 more)	Single nucleotide variant (missense variant +2 more)	Hereditary spastic paraplegia 73	GUncertain significance
Select item 2718310	NM_001199753.2(CPT1C):c.694-8G>A	CPT1C	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 73	GLikely benign
Select item 2718104	NM_001199753.2(CPT1C):c.391T>C (p.Ser131Pro)	CPT1C (S131P)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 73	GUncertain significance
Select item 2717985	NM_001199753.2(CPT1C):c.1732-7C>T	CPT1C	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 73	GLikely benign
Select item 2716923	NM_001199753.2(CPT1C):c.1202C>T (p.Ala401Val)	CPT1C (A401V +2 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 73	GUncertain significance
Select item 2716412	NM_001199753.2(CPT1C):c.310G>T (p.Val104Phe)	CPT1C (V104F)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 2713240	NM_001199753.2(CPT1C):c.1008C>G (p.Phe336Leu)	CPT1C (F336L +2 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 73 +1 more	GUncertain significance
Select item 2712553	NM_001199753.2(CPT1C):c.879+12C>T	CPT1C	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia 73	GLikely benign
Select item 2712523	NM_001199753.2(CPT1C):c.694-9C>T	CPT1C	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 73	GLikely benign
Select item 2704307	NM_001199753.2(CPT1C):c.811C>T (p.Arg271Cys)	CPT1C (R260C +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 73	GUncertain significance
Select item 2695500	NM_001199753.2(CPT1C):c.122G>C (p.Arg41Thr)	CPT1C (R41T)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 73	GUncertain significance
Select item 2671628	NM_001199753.2(CPT1C):c.727C>T (p.Arg243Cys)	CPT1C (R243C)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 73	GUncertain significance
Select item 2576627	NM_001199753.2(CPT1C):c.2002T>C (p.Ser668Pro)	CPT1C (S612P +4 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 73	GUncertain significance
Select item 2423816	NC_000019.9:g.(?_50213557)_(50214134_?)del	CPT1C	Deletion	Hereditary spastic paraplegia 73	GUncertain significance
Select item 2421987	NM_001199753.2(CPT1C):c.1264G>A (p.Ala422Thr)	CPT1C (A411T +2 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 73	GUncertain significance
Select item 2415556	NM_001199753.2(CPT1C):c.2308C>T (p.Arg770Cys)	CPT1C (R714C +4 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 73	GUncertain significance
Select item 2200940	NM_001199753.2(CPT1C):c.556-9C>A	CPT1C	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 73	GUncertain significance
Select item 2198961	NM_001199753.2(CPT1C):c.1485C>T (p.Tyr495=)	CPT1C	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia 73	GLikely benign
Select item 2195792	NM_001199753.2(CPT1C):c.454-11C>T	CPT1C	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 73	GLikely benign
Select item 2194666	NM_001199753.2(CPT1C):c.388C>G (p.Leu130Val)	CPT1C (L130V)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 73	GLikely benign
Select item 2192718	NM_001199753.2(CPT1C):c.1377C>T (p.Phe459=)	CPT1C	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia 73	GUncertain significance
Select item 2190149	NM_001199753.2(CPT1C):c.652C>T (p.Gln218Ter)	CPT1C (Q218*)	Single nucleotide variant (nonsense +1 more)	Hereditary spastic paraplegia 73	GPathogenic
Select item 2184303	NM_001199753.2(CPT1C):c.1686T>A (p.Ser562=)	CPT1C	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia 73	GLikely benign
Select item 2183071	NM_001199753.2(CPT1C):c.1824G>A (p.Glu608=)	CPT1C	Single nucleotide variant (synonymous variant +2 more)	Hereditary spastic paraplegia 73	GLikely benign
Select item 2180473	NM_001199753.2(CPT1C):c.2134-18C>T	CPT1C	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 73	GLikely benign
Select item 2175827	NM_001199753.2(CPT1C):c.1563C>T (p.Asp521=)	CPT1C	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia 73	GLikely benign
Select item 2175379	NM_001199753.2(CPT1C):c.540G>A (p.Gln180=)	CPT1C	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia 73	GLikely benign
Select item 2170939	NM_001199753.2(CPT1C):c.1265C>A (p.Ala422Glu)	CPT1C (A411E +2 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 73	GUncertain significance
Select item 2170936	NM_001199753.2(CPT1C):c.281+8C>A	CPT1C	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 73	GLikely benign
Select item 2166646	NM_001199753.2(CPT1C):c.1837G>A (p.Val613Ile)	CPT1C (V613I +2 more)	Single nucleotide variant (missense variant +2 more)	Hereditary spastic paraplegia 73	GUncertain significance
Select item 2164318	NM_001199753.2(CPT1C):c.1866+3G>A	CPT1C	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 73	GUncertain significance
Select item 2163281	NM_001199753.2(CPT1C):c.930C>G (p.Ile310Met)	CPT1C (I310M +2 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 73	GUncertain significance
Select item 2162435	NM_001199753.2(CPT1C):c.689A>C (p.Asn230Thr)	CPT1C (N230T)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 73	GUncertain significance
Select item 2160439	NM_001199753.2(CPT1C):c.2093A>G (p.Asn698Ser)	CPT1C (N642S +4 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 73	GUncertain significance
Select item 2158206	NM_001199753.2(CPT1C):c.2071A>G (p.Met691Val)	CPT1C (M680V +4 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 73	GUncertain significance
Select item 2154571	NM_001199753.2(CPT1C):c.1579A>G (p.Ile527Val)	CPT1C (I516V +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary spastic paraplegia 73	GUncertain significance
Select item 2153763	NM_001199753.2(CPT1C):c.393C>T (p.Ser131=)	CPT1C	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia 73	GLikely benign
Select item 2153705	NM_001199753.2(CPT1C):c.840C>G (p.Leu280=)	CPT1C	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia 73	GLikely benign
Select item 2152865	NM_001199753.2(CPT1C):c.2133+3G>A	CPT1C	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 73	GUncertain significance
Select item 2150781	NM_001199753.2(CPT1C):c.609G>A (p.Ala203=)	CPT1C	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia 73	GLikely benign

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