126129[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59116	GRCh38/hg38 19q13.33-13.43(chr19:47908540-58539965)x3	ZBTB45, ZFP28 +1081 more	Copy number gain	See cases	GPathogenic
Select item 59117	GRCh38/hg38 19q13.33-13.43(chr19:47929575-58572206)x3	LOC130064933, LOC130064934 +1093 more	Copy number gain	See cases	GPathogenic
Select item 147632	GRCh38/hg38 19q13.33(chr19:49623273-49747363)x3	ADM5, BCL2L12 +17 more	Copy number gain	See cases	GBenign
Select item 978230	NM_001199753.2(CPT1C):c.2T>G (p.Met1Arg)	CPT1C (M1R)	Single nucleotide variant (missense variant +2 more)	Hereditary spastic paraplegia 73	GLikely pathogenic
Select item 1128374	NM_001199753.2(CPT1C):c.21C>T (p.Ala7=)	CPT1C	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia 73	GLikely benign
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 747955	NM_001199753.2(CPT1C):c.33A>T (p.Arg11=)	CPT1C	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia 73	GLikely benign
Select item 2085038	NM_001199753.2(CPT1C):c.39G>A (p.Ser13=)	CPT1C	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia 73	GLikely benign
Select item 2524192	NM_001199753.2(CPT1C):c.47C>T (p.Ser16Leu)	CPT1C (S16L)	Single nucleotide variant (missense variant +1 more)	not specified	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 662312	NM_001199753.2(CPT1C):c.55G>A (p.Ala19Thr)	CPT1C (A19T)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 73 +1 more	GUncertain significance
Select item 2073415	NM_001199753.2(CPT1C):c.56C>T (p.Ala19Val)	CPT1C (A19V)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 73	GUncertain significance
Select item 2076948	NM_001199753.2(CPT1C):c.70A>G (p.Ser24Gly)	CPT1C (S24G)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 73	GUncertain significance
Select item 2003799	NM_001199753.2(CPT1C):c.107T>G (p.Leu36Arg)	CPT1C (L36R)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 73	GUncertain significance
Select item 189198	NM_001199753.2(CPT1C):c.109C>T (p.Arg37Cys)	CPT1C (R37C)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 73	GPathogenic
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 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 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 2272887	NM_001199753.2(CPT1C):c.139T>C (p.Trp47Arg)	CPT1C (W47R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1601453	NM_001199753.2(CPT1C):c.141+10G>A	CPT1C	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 73	GBenign
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 476171	NM_001199753.2(CPT1C):c.146A>T (p.Asp49Val)	CPT1C (D49V)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 73	GUncertain significance
Select item 707514	NM_001199753.2(CPT1C):c.156C>T (p.Thr52=)	CPT1C	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia 73	GLikely benign
Select item 1358380	NM_001199753.2(CPT1C):c.157G>A (p.Gly53Ser)	CPT1C (G53S)	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 640926	NM_001199753.2(CPT1C):c.196T>G (p.Phe66Val)	CPT1C (F66V)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 1035925	NM_001199753.2(CPT1C):c.200G>A (p.Ser67Asn)	CPT1C (S67N)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 73 +1 more	GUncertain significance
Select item 1475902	NM_001199753.2(CPT1C):c.203C>T (p.Ala68Val)	CPT1C (A68V)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 73	GUncertain significance
Select item 2291677	NM_001199753.2(CPT1C):c.223C>T (p.Leu75Phe)	CPT1C (L75F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1176715	NM_001199753.2(CPT1C):c.253G>A (p.Glu85Lys)	CPT1C (E85K)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 73 +2 more	GUncertain significance
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 2170936	NM_001199753.2(CPT1C):c.281+8C>A	CPT1C	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 73	GLikely benign
Select item 1991983	NM_001199753.2(CPT1C):c.281+9C>T	CPT1C	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 73	GLikely benign
Select item 1941423	NM_001199753.2(CPT1C):c.282-15T>C	CPT1C	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 73	GLikely benign
Select item 2036937	NM_001199753.2(CPT1C):c.282-5C>T	CPT1C	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 73	GLikely benign
Select item 862277	NM_001199753.2(CPT1C):c.282-3C>G	CPT1C	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 73	GUncertain significance
Select item 704901	NM_001199753.2(CPT1C):c.288A>C (p.Gly96=)	CPT1C	Single nucleotide variant (synonymous variant +1 more)	CPT1C-related disorder +1 more	GLikely benign
Select item 542769	NM_001199753.2(CPT1C):c.291A>C (p.Gln97His)	CPT1C (Q97H)	Single nucleotide variant (missense variant +1 more)	CPT1C-related disorder +1 more	GLikely benign
Select item 738659	NM_001199753.2(CPT1C):c.294C>T (p.His98=)	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 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 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 476176	NM_001199753.2(CPT1C):c.321C>T (p.Ala107=)	CPT1C	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia 73	GLikely benign
Select item 3046389	NM_001199753.2(CPT1C):c.333C>T (p.Ala111=)	CPT1C	Single nucleotide variant (synonymous variant +1 more)	CPT1C-related disorder	GLikely benign
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 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 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 645918	NM_001199753.2(CPT1C):c.372G>A (p.Val124=)	CPT1C	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia 73	GUncertain significance
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 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 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 739878	NM_001199753.2(CPT1C):c.417C>A (p.Pro139=)	CPT1C	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 704495	NM_001199753.2(CPT1C):c.438C>A (p.Pro146=)	CPT1C	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia 73	GLikely benign
Select item 1699131	NM_001199753.2(CPT1C):c.449G>A (p.Trp150Ter)	CPT1C (W150*)	Single nucleotide variant (nonsense +1 more)	Hereditary spastic paraplegia 73	GUncertain significance
Select item 476177	NM_001199753.2(CPT1C):c.453+4T>C	CPT1C	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 73	GLikely benign
Select item 1540291	NM_001199753.2(CPT1C):c.453+14A>G	CPT1C	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 73	GBenign
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 1061896	NM_001199753.2(CPT1C):c.455C>T (p.Ala152Val)	CPT1C (A152V)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 73	GUncertain significance
Select item 2302232	NM_001199753.2(CPT1C):c.460G>C (p.Val154Leu)	CPT1C (V154L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1510209	NM_001199753.2(CPT1C):c.463C>T (p.Arg155Cys)	CPT1C (R155C)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 73	GUncertain significance
Select item 595024	NM_001199753.2(CPT1C):c.489G>A (p.Met163Ile)	CPT1C (M163I)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
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 736205	NM_001199753.2(CPT1C):c.525C>T (p.Pro175=)	CPT1C	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia 73	GLikely benign
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 2650284	NM_001199753.2(CPT1C):c.534T>C (p.Ser178=)	CPT1C	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 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 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 2200940	NM_001199753.2(CPT1C):c.556-9C>A	CPT1C	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 73	GUncertain significance
Select item 1536225	NM_001199753.2(CPT1C):c.556-6C>T	CPT1C	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 73	GLikely benign
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 1979615	NM_001199753.2(CPT1C):c.567G>A (p.Ser189=)	CPT1C	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia 73	GLikely benign
Select item 569509	NM_001199753.2(CPT1C):c.589G>A (p.Glu197Lys)	CPT1C (E197K)	Single nucleotide variant (missense variant +1 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 3076940	NM_001199753.2(CPT1C):c.607G>A (p.Ala203Thr)	CPT1C (A203T)	Single nucleotide variant (missense variant +1 more)	not specified	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
Select item 2650285	NM_001199753.2(CPT1C):c.617C>T (p.Ala206Val)	CPT1C (A206V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2280426	NM_001199753.2(CPT1C):c.620A>G (p.Gln207Arg)	CPT1C (Q207R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1167098	NM_001199753.2(CPT1C):c.645G>A (p.Ser215=)	CPT1C	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia 73	GBenign
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 712948	NM_001199753.2(CPT1C):c.664C>A (p.Arg222=)	CPT1C	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 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 1900466	NM_001199753.2(CPT1C):c.689A>G (p.Asn230Ser)	CPT1C (N230S)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 73	GUncertain significance
Select item 2047654	NM_001199753.2(CPT1C):c.693+7C>G	CPT1C	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 73	GLikely benign
Select item 2079599	NM_001199753.2(CPT1C):c.693+11C>T	CPT1C	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 73	GLikely benign
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 2145885	NM_001199753.2(CPT1C):c.694-14C>A	CPT1C	Single nucleotide variant (intron variant)	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 2000736	NM_001199753.2(CPT1C):c.694-9C>G	CPT1C	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 73	GLikely benign
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 2831950	NM_001199753.2(CPT1C):c.694-2A>G	CPT1C	Single nucleotide variant (splice acceptor variant)	Hereditary spastic paraplegia 73	GLikely pathogenic
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 704286	NM_001199753.2(CPT1C):c.721T>C (p.Tyr241His)	CPT1C (Y241H)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 73 +1 more	GBenign/Likely benign
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 959137	NM_001199753.2(CPT1C):c.740C>T (p.Pro247Leu)	CPT1C (P247L)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 73 +1 more	GUncertain significance
Select item 2140883	NM_001199753.2(CPT1C):c.741G>A (p.Pro247=)	CPT1C	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia 73	GLikely benign
Select item 2102144	NM_001199753.2(CPT1C):c.748G>A (p.Val250Met)	CPT1C (V250M)	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

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