spyridium laurence - ClinVar - NCBI

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The following term was not found in ClinVar: spyridium.
Showing results for Spyridium lawrencii. Your search for Spyridium lawrencii retrieved no results.

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 963094	NM_206933.4(USH2A):c.1226G>A (p.Trp409Ter)	USH2A (W409*)	Single nucleotide variant (nonsense)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 347505	NM_152618.3(BBS12):c.2023C>T (p.Arg675Ter)	BBS12 (R675*)	Single nucleotide variant (nonsense)	BBS12-related disorder +3 more	GPathogenic/Likely pathogenic
Select item 802289	NM_207111.4(RNF216):c.2686G>T (p.Val896Phe)	RNF216 (V839F +1 more)	Single nucleotide variant (missense variant)	Cerebellar ataxia-hypogonadism syndrome	GUncertain significance
Select item 800990	NM_207111.4(RNF216):c.2663T>A (p.Val888Glu)	RNF216 (V831E +1 more)	Single nucleotide variant (missense variant)	Cerebellar ataxia-hypogonadism syndrome	GUncertain significance
Select item 1696861	NM_207111.4(RNF216):c.2375A>C (p.Asp792Ala)	RNF216 (D735A +1 more)	Single nucleotide variant (missense variant)	Cerebellar ataxia-hypogonadism syndrome	GUncertain significance
Select item 1397588	NM_207111.4(RNF216):c.2374G>A (p.Asp792Asn)	RNF216 (D792N +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 50912	NM_207111.4(RNF216):c.2251C>T (p.Arg751Cys)	RNF216 (R751C +1 more)	Single nucleotide variant (missense variant)	Cerebellar ataxia-hypogonadism syndrome	GPathogenic
Select item 1343797	NM_207111.4(RNF216):c.2149C>T (p.Arg717Cys)	RNF216 (R660C +1 more)	Single nucleotide variant (missense variant)	Cerebellar ataxia-hypogonadism syndrome	GPathogenic
Select item 1027514	NM_207111.4(RNF216):c.2061+3A>G	RNF216	Single nucleotide variant (intron variant)	Cerebellar ataxia-hypogonadism syndrome	GLikely pathogenic
Select item 1696862	NM_207111.4(RNF216):c.2044A>C (p.Asn682His)	RNF216 (N625H +1 more)	Single nucleotide variant (missense variant)	Cerebellar ataxia-hypogonadism syndrome	GUncertain significance
Select item 3341367	NM_207111.4(RNF216):c.1904C>T (p.Pro635Leu)	RNF216 (P578L +1 more)	Single nucleotide variant (missense variant)	Cerebellar ataxia-hypogonadism syndrome	GUncertain significance
Select item 1027515	NM_207111.4(RNF216):c.1849A>G (p.Met617Val)	RNF216 (M560V +1 more)	Single nucleotide variant (missense variant)	Cerebellar ataxia-hypogonadism syndrome	GLikely pathogenic
Select item 50913	NM_207111.4(RNF216):c.1791T>A (p.Cys597Ter)	RNF216 (C597* +1 more)	Single nucleotide variant (nonsense)	Cerebellar ataxia-hypogonadism syndrome	GPathogenic
Select item 1407791	NM_207111.4(RNF216):c.1717C>T (p.Arg573Cys)	RNF216 (R573C +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2435451	NM_207111.4(RNF216):c.1644G>C (p.Glu548Asp)	RNF216 (E491D +1 more)	Single nucleotide variant (missense variant)	Cerebellar ataxia-hypogonadism syndrome	GUncertain significance
Select item 199656	NM_207111.4(RNF216):c.1616A>G (p.Tyr539Cys)	RNF216 (Y539C +1 more)	Single nucleotide variant (missense variant)	Cerebellar ataxia-hypogonadism syndrome	GUncertain significance
Select item 199654	NM_207111.4(RNF216):c.1367G>A (p.Gly456Glu)	RNF216 (G456E +1 more)	Single nucleotide variant (missense variant)	Cerebellar ataxia-hypogonadism syndrome	GPathogenic
Select item 1676240	NM_207111.4(RNF216):c.1172G>C (p.Arg391Thr)	RNF216 (R334T +1 more)	Single nucleotide variant (missense variant)	Cerebellar ataxia-hypogonadism syndrome	GUncertain significance
Select item 1804037	NM_207111.4(RNF216):c.991C>T (p.Gln331Ter)	RNF216 (Q274* +1 more)	Single nucleotide variant (nonsense)	Cerebellar ataxia-hypogonadism syndrome	GPathogenic
Select item 2444427	NM_207111.4(RNF216):c.986G>A (p.Trp329Ter)	RNF216 (W272* +1 more)	Single nucleotide variant (nonsense)	Cerebellar ataxia-hypogonadism syndrome	GPathogenic
Select item 199655	NM_207111.4(RNF216):c.904C>T (p.Gln302Ter)	RNF216 (Q302* +1 more)	Single nucleotide variant (nonsense)	Cerebellar ataxia-hypogonadism syndrome	GPathogenic
Select item 50914	NM_207111.4(RNF216):c.615_616del (p.Glu205fs)	RNF216 (E205fs +1 more)	Microsatellite (frameshift variant)	Cerebellar ataxia-hypogonadism syndrome	GPathogenic
Select item 587594	NM_207111.4(RNF216):c.202-1G>C	RNF216	Single nucleotide variant (intron variant +1 more)	Cerebellar ataxia-hypogonadism syndrome	GPathogenic
Select item 786897	NM_207111.4(RNF216):c.149C>G (p.Ala50Gly)	RNF216 (A50G)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 1676236	NM_207111.4(RNF216):c.108C>G (p.Asp36Glu)	RNF216 (D36E)	Single nucleotide variant (missense variant)	Cerebellar ataxia-hypogonadism syndrome	GUncertain significance
Select item 2154874	NM_207111.4(RNF216):c.83G>A (p.Arg28Gln)	RNF216 (R28Q)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2435449	NM_207111.4(RNF216):c.54C>G (p.Cys18Trp)	RNF216 (C18W)	Single nucleotide variant (missense variant)	Cerebellar ataxia-hypogonadism syndrome	GUncertain significance
Select item 2435450	NM_207111.4(RNF216):c.1del (p.Met1fs)	RNF216 (M1fs)	Deletion (frameshift variant +1 more)	Cerebellar ataxia-hypogonadism syndrome	GUncertain significance
Select item 813323	GRCh37/hg19 7p22.1(chr7:5692044-5692141)	RNF216	Copy number loss	Cerebellar ataxia-hypogonadism syndrome	GPathogenic
Select item 2529	NM_144596.4(TTC8):c.1049+2_1049+4del	TTC8	Deletion (splice donor variant)	Bardet-Biedl syndrome +1 more	GPathogenic
Select item 894185	NM_020533.3(MCOLN1):c.1458C>A (p.Arg486=)	MCOLN1, PNPLA6	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 39 +1 more	GConflicting classifications of pathogenicity
Select item 894598	NM_006702.4(PNPLA6):c.-298T>C	PNPLA6	Single nucleotide variant	Hereditary spastic paraplegia 39	GUncertain significance
Select item 369302	NM_006702.5(PNPLA6):c.-261T>C	MCOLN1, PNPLA6	Single nucleotide variant (5 prime UTR variant)	Mucolipidosis type IV +2 more	GBenign
Select item 369303	NM_006702.5(PNPLA6):c.-214C>T	MCOLN1, PNPLA6	Single nucleotide variant (5 prime UTR variant)	Mucolipidosis type IV +2 more	GBenign/Likely benign
Select item 892571	NM_006702.5(PNPLA6):c.-200C>T	PNPLA6	Single nucleotide variant (5 prime UTR variant)	Hereditary spastic paraplegia 39	GUncertain significance
Select item 330508	NM_006702.5(PNPLA6):c.-122G>A	PNPLA6	Single nucleotide variant (5 prime UTR variant)	Hereditary spastic paraplegia 39	GUncertain significance
Select item 892572	NM_006702.5(PNPLA6):c.-99A>C	PNPLA6	Single nucleotide variant (5 prime UTR variant)	Hereditary spastic paraplegia 39	GUncertain significance
Select item 330509	NM_006702.5(PNPLA6):c.-96A>C	MCOLN1, PNPLA6	Single nucleotide variant (5 prime UTR variant)	not provided +3 more	GBenign/Likely benign
Select item 330510	NM_006702.5(PNPLA6):c.-53T>C	PNPLA6	Single nucleotide variant (5 prime UTR variant)	Hereditary spastic paraplegia 39	GUncertain significance
Select item 509719	NM_006702.5(PNPLA6):c.-43+3G>A	PNPLA6	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 39 +1 more	GConflicting classifications of pathogenicity
Select item 240695	NM_006702.5(PNPLA6):c.2T>C (p.Met1Thr)	LOC130063377, PNPLA6 (M1T)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 39 +1 more	GUncertain significance
Select item 1621621	NC_000019.10:g.7535556G>A	LOC130063377, PNPLA6	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 39	GLikely benign
Select item 2768502	NC_000019.10:g.7535557G>A	LOC130063377, PNPLA6 (A3T)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 39	GUncertain significance
Select item 330511	NM_006702.5(PNPLA6):c.10C>T (p.Pro4Ser)	LOC130063377, PNPLA6 (P4S)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 39	GUncertain significance
Select item 2018933	NC_000019.10:g.7535562G>A	LOC130063377, PNPLA6	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 39	GLikely benign
Select item 843409	NC_000019.10:g.7535563_7535564delinsGG	LOC130063377, PNPLA6 (L5G)	Indel (missense variant)	Hereditary spastic paraplegia 39	GUncertain significance
Select item 935764	NC_000019.10:g.7535564T>A	LOC130063377, PNPLA6 (L5Q)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 39	GUncertain significance
Select item 1716898	NC_000019.10:g.7535573G>A	LOC130063377, PNPLA6 (G8E)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 39	GUncertain significance
Select item 2202447	NC_000019.10:g.7535576T>C	LOC130063377, PNPLA6 (M9T)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 39	GUncertain significance
Select item 1564071	NC_000019.10:g.7535588G>C	LOC130063377, PNPLA6	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 39	GLikely benign
Select item 2820861	NC_000019.10:g.7535591C>A	LOC130063377, PNPLA6	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 39	GLikely benign
Select item 1583042	NC_000019.10:g.7535591C>T	LOC130063377, PNPLA6	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 39 +1 more	GLikely benign
Select item 2708945	NC_000019.10:g.7535595G>A	LOC130063377, PNPLA6	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 39	GLikely benign
Select item 1679717	NM_001166114.2(PNPLA6):c.29C>G (p.Thr10Arg)	PNPLA6 (T10R +1 more)	Single nucleotide variant (missense variant +1 more)	Ataxia-hypogonadism-choroidal dystrophy syndrome +3 more	GUncertain significance
Select item 1630158	NM_001166114.2(PNPLA6):c.130C>T (p.Pro44Ser)	PNPLA6 (P44S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 893384	NM_001166114.2(PNPLA6):c.131C>T (p.Pro44Leu)	PNPLA6 (P44L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2104031	NM_001166114.2(PNPLA6):c.136G>T (p.Val46Phe)	PNPLA6 (V46F +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 39	GLikely benign
Select item 2128472	NM_001166114.2(PNPLA6):c.138C>T (p.Val46=)	PNPLA6	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia 39	GLikely benign
Select item 1544164	NM_001166114.2(PNPLA6):c.139C>T (p.Pro47Ser)	PNPLA6 (P47S +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 39	GLikely benign
Select item 2414035	NM_001166114.2(PNPLA6):c.140C>T (p.Pro47Leu)	PNPLA6 (P47L +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 39	GLikely benign
Select item 944016	NM_001166114.2(PNPLA6):c.148C>T (p.Leu50Phe)	PNPLA6 (L50F +2 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 39	GUncertain significance
Select item 1944899	NM_001166114.2(PNPLA6):c.154G>A (p.Val52Met)	PNPLA6 (V13M +2 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 39	GUncertain significance
Select item 2709725	NM_001166114.2(PNPLA6):c.156G>T (p.Val52=)	PNPLA6	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 39	GLikely benign
Select item 1052610	NM_001166114.2(PNPLA6):c.163_186dup (p.Gly55_Val62dup)	PNPLA6	Duplication (inframe_insertion)	Hereditary spastic paraplegia 39	GUncertain significance
Select item 240702	NM_001166114.2(PNPLA6):c.162C>T (p.Ile54=)	PNPLA6	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 39 +1 more	GConflicting classifications of pathogenicity
Select item 2064966	NM_001166114.2(PNPLA6):c.166G>T (p.Ala56Ser)	PNPLA6 (A17S +2 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 39	GUncertain significance
Select item 937022	NM_001166114.2(PNPLA6):c.169G>C (p.Gly57Arg)	PNPLA6 (G66R +2 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 39	GUncertain significance
Select item 469623	NM_001166114.2(PNPLA6):c.171A>C (p.Gly57=)	PNPLA6	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 281419	NM_001166114.2(PNPLA6):c.173T>C (p.Val58Ala)	MCOLN1, PNPLA6 (V19A +2 more)	Single nucleotide variant (missense variant)	not specified +4 more	GBenign/Likely benign
Select item 240703	NM_001166114.2(PNPLA6):c.181G>C (p.Val61Leu)	MCOLN1, PNPLA6 (V22L +2 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia +8 more	GBenign/Likely benign
Select item 330512	NM_001166114.2(PNPLA6):c.183G>A (p.Val61=)	MCOLN1, PNPLA6	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia +5 more	GBenign/Likely benign
Select item 893385	NM_001166114.2(PNPLA6):c.186C>G (p.Val62=)	PNPLA6	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1911706	NM_001166114.2(PNPLA6):c.188C>T (p.Thr63Met)	PNPLA6 (T72M +2 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 39	GUncertain significance
Select item 1997938	NM_001166114.2(PNPLA6):c.192C>G (p.Ala64=)	PNPLA6	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 39	GLikely benign
Select item 2132537	NM_001166114.2(PNPLA6):c.193G>A (p.Val65Met)	PNPLA6 (V74M +2 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 39	GUncertain significance
Select item 1345601	NM_001166114.2(PNPLA6):c.197T>G (p.Leu66Arg)	PNPLA6 (L27R +2 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 39	GUncertain significance
Select item 893386	NM_001166114.2(PNPLA6):c.198C>T (p.Leu66=)	PNPLA6	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 39	GUncertain significance
Select item 938224	NM_001166114.2(PNPLA6):c.202C>T (p.Leu68Phe)	PNPLA6 (L29F +2 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 39	GUncertain significance
Select item 2187080	NM_001166114.2(PNPLA6):c.207G>A (p.Leu69=)	PNPLA6	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 39	GLikely benign
Select item 2759232	NM_001166114.2(PNPLA6):c.215G>A (p.Arg72Gln)	PNPLA6 (R72Q +2 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 39	GUncertain significance
Select item 1533140	NM_001166114.2(PNPLA6):c.216G>C (p.Arg72=)	PNPLA6	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 39	GLikely benign
Select item 1397570	NM_001166114.2(PNPLA6):c.217A>G (p.Arg73Gly)	PNPLA6 (R82G +2 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 39 +1 more	GUncertain significance
Select item 2148912	NM_001166114.2(PNPLA6):c.219G>C (p.Arg73Ser)	PNPLA6 (R82S +2 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 39	GUncertain significance
Select item 1132688	NM_001166114.2(PNPLA6):c.220C>T (p.Leu74=)	PNPLA6	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 39	GLikely benign
Select item 2130511	NM_001166114.2(PNPLA6):c.224G>A (p.Arg75Gln)	PNPLA6 (R84Q +2 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 39	GUncertain significance
Select item 392043	NM_001166114.2(PNPLA6):c.225A>G (p.Arg75=)	PNPLA6	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 39 +2 more	GConflicting classifications of pathogenicity
Select item 1046252	NM_001166114.2(PNPLA6):c.226G>A (p.Val76Met)	PNPLA6 (V37M +2 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 39	GUncertain significance
Select item 509801	NM_001166114.2(PNPLA6):c.232+14G>A	PNPLA6	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 39 +1 more	GConflicting classifications of pathogenicity
Select item 2048202	NM_001166114.2(PNPLA6):c.232+15G>A	PNPLA6	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 39	GLikely benign
Select item 2080412	NM_001166114.2(PNPLA6):c.232+16G>T	PNPLA6	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 39	GLikely benign
Select item 2765496	NM_001166114.2(PNPLA6):c.233-16C>T	PNPLA6	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 39	GLikely benign
Select item 1945588	NM_001166114.2(PNPLA6):c.233-16C>G	PNPLA6	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 39	GUncertain significance
Select item 1596757	NM_001166114.2(PNPLA6):c.233-15C>T	PNPLA6	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 39	GLikely benign
Select item 1590041	NM_001166114.2(PNPLA6):c.233-13C>G	PNPLA6	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 39	GLikely benign
Select item 2102772	NM_001166114.2(PNPLA6):c.233-11C>G	PNPLA6	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 39	GUncertain significance
Select item 240690	NM_001166114.2(PNPLA6):c.233-8A>G	PNPLA6	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 39	GLikely benign
Select item 1516269	NM_001166114.2(PNPLA6):c.238C>T (p.Pro80Ser)	PNPLA6 (P89S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1152533	NM_001166114.2(PNPLA6):c.240A>C (p.Pro80=)	PNPLA6	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 39	GLikely benign
Select item 1132736	NM_001166114.2(PNPLA6):c.246G>A (p.Pro82=)	PNPLA6	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 39	GLikely benign
Select item 2136970	NM_001166114.2(PNPLA6):c.252C>A (p.Gly84=)	PNPLA6	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 39	GLikely benign

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