ClinVar for Gene (Select 83636) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3376956	NM_031448.6(C19orf12):c.302G>A (p.Trp101Ter)	C19orf12 (W101* +1 more)	Single nucleotide variant (nonsense +1 more)	Neurodegeneration with brain iron accumulation 4	GPathogenic
Select item 3372545	NM_031448.6(C19orf12):c.242C>T (p.Pro81Leu)	C19orf12 (P17L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3367687	NM_031448.6(C19orf12):c.12G>A (p.Met4Ile)	C19orf12 (M4I)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 3256807	NM_031448.6(C19orf12):c.-10-335A>G	C19orf12	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 3253567	NM_031448.6(C19orf12):c.61del (p.Lys20_Met21insTer)	C19orf12	Deletion (nonsense +2 more)	not provided	GUncertain significance
Select item 3252298	NM_031448.6(C19orf12):c.394G>T (p.Glu132Ter)	C19orf12 (E132* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 3062386	GRCh37/hg19 19q11-13.2(chr19:28271146-41508851)x3	SLC7A9, SNRPA +215 more	Copy number gain	not specified	GPathogenic
Select item 3030220	NM_031448.6(C19orf12):c.6T>C (p.Thr2=)	C19orf12	Single nucleotide variant (synonymous variant +2 more)	C19orf12-related disorder	GLikely benign
Select item 2997180	NM_031448.6(C19orf12):c.405C>T (p.Ala135=)	C19orf12	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia 43	GLikely benign
Select item 2988212	NM_031448.6(C19orf12):c.7A>G (p.Ile3Val)	C19orf12 (I3V)	Single nucleotide variant (missense variant +2 more)	Hereditary spastic paraplegia 43	GUncertain significance
Select item 2987861	NM_031448.6(C19orf12):c.286A>G (p.Ile96Val)	C19orf12 (I32V +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 43	GUncertain significance
Select item 2961847	NM_031448.6(C19orf12):c.277G>T (p.Ala93Ser)	C19orf12 (A29S +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 43	GUncertain significance
Select item 2918864	NM_031448.6(C19orf12):c.102C>T (p.Val34=)	C19orf12	Single nucleotide variant (synonymous variant +2 more)	Hereditary spastic paraplegia 43	GLikely benign
Select item 2900599	NM_031448.6(C19orf12):c.-11+199G>A	C19orf12, LOC130064129	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary spastic paraplegia 43	GUncertain significance
Select item 2880994	NM_031448.6(C19orf12):c.120C>T (p.Phe40=)	C19orf12	Single nucleotide variant (synonymous variant +2 more)	Hereditary spastic paraplegia 43	GLikely benign
Select item 2879854	NM_031448.6(C19orf12):c.174G>A (p.Gly58=)	C19orf12	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia 43	GLikely benign
Select item 2876056	NM_031448.6(C19orf12):c.270C>G (p.Asn90Lys)	C19orf12 (N26K +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 43	GUncertain significance
Select item 2863593	NM_031448.6(C19orf12):c.72T>C (p.Ala24=)	C19orf12	Single nucleotide variant (synonymous variant +2 more)	Hereditary spastic paraplegia 43	GLikely benign
Select item 2854686	NM_031448.6(C19orf12):c.141C>A (p.Gly47=)	C19orf12	Single nucleotide variant (synonymous variant +2 more)	Hereditary spastic paraplegia 43	GLikely benign
Select item 2775988	NM_031448.6(C19orf12):c.153C>T (p.Leu51=)	C19orf12	Single nucleotide variant (synonymous variant +2 more)	Hereditary spastic paraplegia 43	GLikely benign
Select item 2758226	NM_031448.6(C19orf12):c.161-9G>A	C19orf12	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 43	GLikely benign
Select item 2750250	NM_031448.6(C19orf12):c.10A>G (p.Met4Val)	C19orf12 (M4V)	Single nucleotide variant (missense variant +2 more)	Hereditary spastic paraplegia 43	GUncertain significance
Select item 2731278	NM_031448.6(C19orf12):c.1A>G (p.Met1Val)	C19orf12 (M1V)	Single nucleotide variant (missense variant +3 more)	Hereditary spastic paraplegia 43	GUncertain significance
Select item 2682244	NC_000019.9:g.(?_30189943)_(30205968_?)del	C19orf12	Deletion	not specified	GUncertain significance
Select item 2671800	NM_031448.6(C19orf12):c.161_170dup (p.Leu60fs)	C19orf12 (L60fs)	Duplication (frameshift variant +1 more)	Hereditary spastic paraplegia 43	GUncertain significance
Select item 2662190	NM_031448.6(C19orf12):c.207G>C (p.Gln69His)	C19orf12 (Q5H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2585400	NM_031448.6(C19orf12):c.118T>G (p.Phe40Val)	C19orf12 (F40V)	Single nucleotide variant (missense variant +2 more)	Neurodegeneration with brain iron accumulation 4 +1 more	GUncertain significance
Select item 2584972	NM_031448.6(C19orf12):c.36_40del (p.Cys13fs)	C19orf12 (C13fs)	Deletion (frameshift variant +2 more)	Hereditary spastic paraplegia 43	GLikely pathogenic
Select item 2584847	NM_031448.6(C19orf12):c.157G>C (p.Val53Leu)	C19orf12 (V53L)	Single nucleotide variant (missense variant +2 more)	Hereditary spastic paraplegia 43	GUncertain significance
Select item 2584363	NM_031448.6(C19orf12):c.105_106del (p.Ala37fs)	C19orf12 (A37fs)	Deletion (frameshift variant +2 more)	Neurodegeneration with brain iron accumulation 4 +1 more	GPathogenic/Likely pathogenic
Select item 2579684	NM_031448.6(C19orf12):c.244C>A (p.Pro82Thr)	C19orf12 (P18T +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 43 +1 more	GUncertain significance
Select item 2577335	NM_031448.6(C19orf12):c.267del (p.Phe89fs)	C19orf12 (F25fs +1 more)	Deletion (frameshift variant)	Neurodegeneration with brain iron accumulation	GPathogenic
Select item 2572716	NM_031448.6(C19orf12):c.244C>T (p.Pro82Ser)	C19orf12 (P18S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2505680	NM_031448.6(C19orf12):c.-10-12_-10-10del	C19orf12	Deletion (intron variant)	not provided	GUncertain significance
Select item 2444859	NM_031448.6(C19orf12):c.415T>C (p.Tyr139His)	C19orf12 (Y139H +1 more)	Single nucleotide variant (missense variant +1 more)	Neurodegeneration with brain iron accumulation 4	GUncertain significance
Select item 2439612	NM_031448.6(C19orf12):c.149G>A (p.Gly50Glu)	C19orf12 (G50E)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2438779	NM_031448.6(C19orf12):c.210del (p.Phe70fs)	C19orf12 (F6fs +1 more)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 2419658	NM_031448.6(C19orf12):c.-11+214C>T	C19orf12, LOC130064129	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary spastic paraplegia 43	GUncertain significance
Select item 2413364	NM_031448.6(C19orf12):c.406G>A (p.Glu136Lys)	C19orf12 (E136K +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 43	GUncertain significance
Select item 2231424	NM_031448.6(C19orf12):c.244C>G (p.Pro82Ala)	C19orf12 (P82A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2199250	NM_031448.6(C19orf12):c.304A>T (p.Thr102Ser)	C19orf12 (T102S +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 43	GUncertain significance
Select item 2195733	NM_031448.6(C19orf12):c.347C>A (p.Ala116Asp)	C19orf12 (A52D +2 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 43	GUncertain significance
Select item 2162175	NM_031448.6(C19orf12):c.412C>A (p.Gln138Lys)	C19orf12 (Q138K +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 43	GUncertain significance
Select item 2157374	NM_031448.6(C19orf12):c.394G>C (p.Glu132Gln)	C19orf12 (E132Q +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 43	GUncertain significance
Select item 2084946	NM_031448.6(C19orf12):c.147G>A (p.Pro49=)	C19orf12	Single nucleotide variant (synonymous variant +2 more)	Hereditary spastic paraplegia 43	GUncertain significance
Select item 2077950	NM_031448.6(C19orf12):c.342C>T (p.Ser114=)	C19orf12	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia 43	GLikely benign
Select item 2062933	NM_031448.6(C19orf12):c.128G>C (p.Gly43Ala)	C19orf12 (G43A)	Single nucleotide variant (missense variant +2 more)	Hereditary spastic paraplegia 43	GUncertain significance
Select item 2058966	NM_031448.6(C19orf12):c.57del (p.Lys20fs)	C19orf12 (K20fs)	Deletion (frameshift variant +2 more)	Hereditary spastic paraplegia 43	GUncertain significance
Select item 2048966	NM_031448.6(C19orf12):c.334A>G (p.Met112Val)	C19orf12 (M112V +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 43	GUncertain significance
Select item 2038455	NM_031448.6(C19orf12):c.215C>A (p.Pro72Gln)	C19orf12 (P8Q +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 43	GUncertain significance
Select item 2033775	NM_031448.6(C19orf12):c.-11+237A>G	C19orf12, LOC130064129	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 43	GLikely benign
Select item 2033751	NM_031448.6(C19orf12):c.-11+197T>G	C19orf12, LOC130064129	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary spastic paraplegia 43	GUncertain significance
Select item 2022862	NM_031448.6(C19orf12):c.356A>G (p.Gln119Arg)	C19orf12 (S101G +2 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 43	GUncertain significance
Select item 1990573	NM_031448.6(C19orf12):c.157G>A (p.Val53Ile)	C19orf12 (V53I)	Single nucleotide variant (missense variant +2 more)	Hereditary spastic paraplegia 43	GUncertain significance
Select item 1965640	NM_031448.6(C19orf12):c.161-13C>T	C19orf12	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 43	GLikely benign
Select item 1949432	NM_031448.6(C19orf12):c.189C>T (p.Ala63=)	C19orf12	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia 43	GLikely benign
Select item 1879429	NM_031448.6(C19orf12):c.200G>A (p.Ser67Asn)	C19orf12 (S3N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1682844	NM_031448.6(C19orf12):c.-11+204G>A	C19orf12, LOC130064129	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary spastic paraplegia 43	GLikely benign
Select item 1682843	NM_031448.6(C19orf12):c.-7C>T	C19orf12	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary spastic paraplegia 43	GLikely benign
Select item 1682842	NM_031448.6(C19orf12):c.-6G>A	C19orf12	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary spastic paraplegia 43	GUncertain significance
Select item 1682841	NM_031448.6(C19orf12):c.2T>C (p.Met1Thr)	C19orf12 (M1T)	Single nucleotide variant (missense variant +3 more)	Hereditary spastic paraplegia 43	GUncertain significance
Select item 1682840	NM_031448.6(C19orf12):c.4A>G (p.Thr2Ala)	C19orf12 (T2A)	Single nucleotide variant (missense variant +2 more)	Hereditary spastic paraplegia 43	GUncertain significance
Select item 1682839	NM_031448.6(C19orf12):c.68C>A (p.Ala23Glu)	C19orf12 (A23E)	Single nucleotide variant (missense variant +2 more)	Hereditary spastic paraplegia 43	GUncertain significance
Select item 1682838	NM_031448.6(C19orf12):c.83C>T (p.Ser28Phe)	C19orf12 (S28F)	Single nucleotide variant (missense variant +2 more)	not specified +1 more	GUncertain significance
Select item 1682837	NM_031448.6(C19orf12):c.97C>T (p.Leu33=)	C19orf12	Single nucleotide variant (synonymous variant +2 more)	Hereditary spastic paraplegia 43	GLikely benign
Select item 1682836	NM_031448.6(C19orf12):c.127G>A (p.Gly43Ser)	C19orf12 (G43S)	Single nucleotide variant (missense variant +2 more)	Hereditary spastic paraplegia 43	GUncertain significance
Select item 1682835	NM_031448.6(C19orf12):c.154G>A (p.Ala52Thr)	C19orf12 (A52T)	Single nucleotide variant (missense variant +2 more)	Hereditary spastic paraplegia 43	GUncertain significance
Select item 1682834	NM_031448.6(C19orf12):c.160+8C>T	C19orf12	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 43	GLikely benign
Select item 1682833	NM_031448.6(C19orf12):c.160+9A>G	C19orf12	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 43	GLikely benign
Select item 1682832	NM_031448.6(C19orf12):c.161-17G>A	C19orf12	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 43	GLikely benign
Select item 1682831	NM_001031726.3(C19orf12):c.199dup	C19orf12	Duplication	Hereditary spastic paraplegia 43 +1 more	GConflicting classifications of pathogenicity
Select item 1682830	NM_031448.6(C19orf12):c.169G>C (p.Val57Leu)	C19orf12 (V57L)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 43	GUncertain significance
Select item 1682829	NM_031448.6(C19orf12):c.171C>T (p.Val57=)	C19orf12	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia 43 +1 more	GLikely benign
Select item 1682828	NM_031448.6(C19orf12):c.221C>G (p.Pro74Arg)	C19orf12 (P10R +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1682827	NM_031448.6(C19orf12):c.240G>T (p.Leu80=)	C19orf12	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 43	GLikely benign
Select item 1682826	NM_031448.6(C19orf12):c.276C>T (p.Ala92=)	C19orf12	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 43	GLikely benign
Select item 1682825	NM_031448.6(C19orf12):c.279del (p.Ala94fs)	C19orf12 (A30fs +1 more)	Deletion (frameshift variant)	Hereditary spastic paraplegia 43	GUncertain significance
Select item 1682824	NM_031448.6(C19orf12):c.294C>G (p.His98Gln)	C19orf12 (H34Q +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 43	GUncertain significance
Select item 1682823	NM_031448.6(C19orf12):c.305C>T (p.Thr102Met)	C19orf12 (T102M +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 43	GUncertain significance
Select item 1682822	NM_031448.6(C19orf12):c.309C>T (p.Asp103=)	C19orf12	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia 43	GLikely benign
Select item 1682821	NM_031448.6(C19orf12):c.396G>A (p.Glu132=)	C19orf12	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia 43	GLikely benign
Select item 1682820	NM_031448.6(C19orf12):c.400C>T (p.Arg134Trp)	C19orf12 (R134W +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 43	GUncertain significance
Select item 1682819	NM_031448.6(C19orf12):c.401G>A (p.Arg134Gln)	C19orf12 (R134Q +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 43	GUncertain significance
Select item 1682818	NM_031448.6(C19orf12):c.408G>A (p.Glu136=)	C19orf12	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia 43	GLikely benign
Select item 1682751	NC_000019.9:g.(?_30205794)_(30205836_?)del	C19orf12	Deletion	Hereditary spastic paraplegia 43	GUncertain significance
Select item 1678772	NM_031448.6(C19orf12):c.343G>A (p.Glu115Lys)	C19orf12 (E115K +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1344264	NM_031448.6(C19orf12):c.59A>G (p.Lys20Arg)	C19orf12 (K20R)	Single nucleotide variant (missense variant +2 more)	Hereditary spastic paraplegia	GUncertain significance
Select item 1344263	NM_031448.6(C19orf12):c.290G>A (p.Arg97Lys)	C19orf12 (R33K +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia	GUncertain significance
Select item 1344262	NM_031448.6(C19orf12):c.180G>C (p.Leu60=)	C19orf12	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia 43 +1 more	GConflicting classifications of pathogenicity
Select item 1344261	NM_031448.6(C19orf12):c.166del	C19orf12	Deletion (splice acceptor variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 1344260	NM_031448.6(C19orf12):c.*3C>T	C19orf12	Single nucleotide variant (3 prime UTR variant)	Hereditary spastic paraplegia	GUncertain significance
Select item 1335335	NM_031448.6(C19orf12):c.214C>T (p.Pro72Ser)	C19orf12 (P72S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1332802	NM_031448.6(C19orf12):c.152T>C (p.Leu51Pro)	C19orf12 (L51P)	Single nucleotide variant (missense variant +2 more)	Hereditary spastic paraplegia 43	GLikely pathogenic
Select item 1330177	GRCh37/hg19 19p13.11-q13.2(chr19:19546923-41313229)x3	ACP7, ACTMAP +255 more	Copy number gain	Specific learning disability	GPathogenic
Select item 1303534	NM_031448.6(C19orf12):c.146C>T (p.Pro49Leu)	C19orf12 (P49L)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1300999	NM_031448.6(C19orf12):c.161-2289G>A	C19orf12, LOC130064128	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1300384	NM_031448.6(C19orf12):c.-38C>T	C19orf12, LOC130064129	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1300315	NM_031448.6(C19orf12):c.161-2338G>T	C19orf12, LOC130064128	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1300292	NM_031448.4(C19orf12):c.-385A>G	C19orf12, LOC130064129	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1299224	NM_031448.6(C19orf12):c.268A>G (p.Asn90Asp)	C19orf12 (N26D +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 43 +1 more	GUncertain significance

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