ClinVar for Gene (Select 51209) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3236787	NM_000533.5(PLP1):c.286G>A (p.Ala96Thr)	PLP1, RAB9B (A41T +1 more)	Single nucleotide variant (missense variant)	Pelizaeus-Merzbacher disease	GUncertain significance
Select item 3236649	NM_000533.5(PLP1):c.413T>C (p.Val138Ala)	PLP1, RAB9B (V138A +1 more)	Single nucleotide variant (missense variant +1 more)	Pelizaeus-Merzbacher disease +1 more	GUncertain significance
Select item 3150845	NM_016370.4(RAB9B):c.11A>G (p.Lys4Arg)	RAB9B (K4R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3064393	NM_000533.5(PLP1):c.694G>A (p.Glu232Lys)	PLP1, RAB9B (E177K +2 more)	Single nucleotide variant (missense variant)	Pelizaeus-Merzbacher disease	GLikely pathogenic
Select item 3061938	NM_000533.5(PLP1):c.623G>T (p.Gly208Val)	PLP1, RAB9B (G153V +2 more)	Single nucleotide variant (missense variant)	Auditory neuropathy spectrum disorder	GPathogenic
Select item 3061922	NM_000533.5(PLP1):c.398A>T (p.His133Leu)	PLP1, RAB9B (H133L +1 more)	Single nucleotide variant (missense variant +1 more)	Pelizaeus-Merzbacher disease +1 more	GUncertain significance
Select item 3055419	NM_000533.5(PLP1):c.4+74G>T	PLP1, RAB9B	Single nucleotide variant (intron variant)	PLP1-related disorder	GLikely benign
Select item 3033192	NM_000533.5(PLP1):c.517C>A (p.Pro173Thr)	PLP1, RAB9B (P118T +2 more)	Single nucleotide variant (missense variant)	PLP1-related disorder	GUncertain significance
Select item 3032269	NM_000533.5(PLP1):c.453+55C>T	PLP1, RAB9B	Single nucleotide variant (intron variant)	PLP1-related disorder	GLikely benign
Select item 3030928	NM_000533.5(PLP1):c.83G>A (p.Gly28Glu)	PLP1, RAB9B (G28E)	Single nucleotide variant (missense variant +1 more)	PLP1-related disorder	GUncertain significance
Select item 3024654	GRCh37/hg19 Xq12-28(chrX:67292994-155240074)x3	TMEM31, TMEM35A +488 more	Copy number gain	not provided	GPathogenic
Select item 3022450	NM_000533.5(PLP1):c.597T>C (p.Ser199=)	PLP1, RAB9B	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 2	GLikely benign
Select item 3020165	NM_000533.5(PLP1):c.261G>A (p.Leu87=)	PLP1, RAB9B	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 2	GLikely benign
Select item 3016322	NM_000533.5(PLP1):c.454-15T>C	PLP1, RAB9B	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 2	GLikely benign
Select item 3013412	NM_000533.5(PLP1):c.453+9C>T	PLP1, RAB9B	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 2	GLikely benign
Select item 3010283	NM_000533.5(PLP1):c.533T>G (p.Phe178Cys)	PLP1, RAB9B (F178C +2 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 2	GUncertain significance
Select item 3009577	NM_000533.5(PLP1):c.248G>A (p.Gly83Glu)	PLP1, RAB9B (G28E +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 2	GUncertain significance
Select item 3005760	NM_000533.5(PLP1):c.622+8A>G	PLP1, RAB9B	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 2	GLikely benign
Select item 3000949	NM_000533.5(PLP1):c.12A>G (p.Leu4=)	PLP1, RAB9B	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia 2	GLikely benign
Select item 2994314	NM_000533.5(PLP1):c.5-13dup	PLP1, RAB9B	Duplication (intron variant)	Hereditary spastic paraplegia 2	GLikely benign
Select item 2984542	NM_000533.5(PLP1):c.762+9A>G	PLP1, RAB9B	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 2	GLikely benign
Select item 2979407	NM_000533.5(PLP1):c.138A>G (p.Leu46=)	PLP1, RAB9B	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia 2	GLikely benign
Select item 2978573	NM_000533.5(PLP1):c.5-15C>G	PLP1, RAB9B	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 2	GBenign
Select item 2968143	NM_000533.5(PLP1):c.801C>T (p.Val267=)	PLP1, RAB9B	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 2	GLikely benign
Select item 2962651	NM_000533.5(PLP1):c.282C>T (p.Thr94=)	PLP1, RAB9B	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 2	GLikely benign
Select item 2920130	NM_000533.5(PLP1):c.426G>A (p.Leu142=)	PLP1, RAB9B	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia 2	GLikely benign
Select item 2916797	NM_000533.5(PLP1):c.99T>C (p.Cys33=)	PLP1, RAB9B	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia 2	GLikely benign
Select item 2916795	NM_000533.5(PLP1):c.453+43del	PLP1, RAB9B	Deletion (intron variant)	Hereditary spastic paraplegia 2	GBenign
Select item 2916037	NM_000533.5(PLP1):c.120C>G (p.Leu40=)	PLP1, RAB9B	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia 2	GLikely benign
Select item 2910890	NM_000533.5(PLP1):c.475C>T (p.Leu159=)	PLP1, RAB9B	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 2	GLikely benign
Select item 2910315	NM_000533.5(PLP1):c.259C>T (p.Leu87=)	PLP1, RAB9B	Single nucleotide variant (synonymous variant)	PLP1-related disorder +1 more	GLikely benign
Select item 2906228	NM_000533.5(PLP1):c.453+44A>G	PLP1, RAB9B	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 2	GLikely benign
Select item 2897092	NM_000533.5(PLP1):c.191+19A>T	PLP1, RAB9B	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 2	GBenign
Select item 2896368	NM_000533.5(PLP1):c.454-16A>C	PLP1, RAB9B	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 2	GLikely benign
Select item 2891512	NM_000533.5(PLP1):c.651C>T (p.Gly217=)	PLP1, RAB9B	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 2	GLikely benign
Select item 2890844	NM_000533.5(PLP1):c.623-19C>T	PLP1, RAB9B	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 2	GLikely benign
Select item 2890140	NM_000533.5(PLP1):c.5-6C>T	PLP1, RAB9B	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 2	GLikely benign
Select item 2888720	NM_000533.5(PLP1):c.327C>T (p.Cys109=)	PLP1, RAB9B	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 2	GLikely benign
Select item 2887556	NM_000533.5(PLP1):c.120C>T (p.Leu40=)	PLP1, RAB9B	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia 2	GLikely benign
Select item 2885467	NM_000533.5(PLP1):c.198T>C (p.His66=)	PLP1, RAB9B	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 2	GBenign
Select item 2870220	NM_000533.5(PLP1):c.5-8T>C	PLP1, RAB9B	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 2	GLikely benign
Select item 2865437	NM_000533.5(PLP1):c.615A>G (p.Arg205=)	PLP1, RAB9B	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 2	GBenign
Select item 2863772	NM_000533.5(PLP1):c.696+17G>T	PLP1, RAB9B	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 2	GLikely benign
Select item 2859032	NM_000533.5(PLP1):c.4+16T>C	PLP1, RAB9B	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 2	GLikely benign
Select item 2847277	NM_000533.5(PLP1):c.697-12A>C	PLP1, RAB9B	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 2	GLikely benign
Select item 2847162	NM_000533.5(PLP1):c.361C>T (p.Gln121Ter)	PLP1, RAB9B (Q121* +1 more)	Single nucleotide variant (nonsense +1 more)	Hereditary spastic paraplegia 2	GPathogenic
Select item 2845460	NM_000533.5(PLP1):c.735G>C (p.Val245=)	PLP1, RAB9B	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 2	GLikely benign
Select item 2841213	NM_000533.5(PLP1):c.279C>A (p.Thr93=)	PLP1, RAB9B	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 2	GLikely benign
Select item 2837098	NM_000533.5(PLP1):c.795T>C (p.Phe265=)	PLP1, RAB9B	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 2	GLikely benign
Select item 2823930	NM_000533.5(PLP1):c.192-9T>A	PLP1, RAB9B	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 2	GLikely benign
Select item 2823572	NM_000533.5(PLP1):c.5-17C>T	PLP1, RAB9B	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 2	GLikely benign
Select item 2817101	NM_000533.5(PLP1):c.101G>T (p.Gly34Val)	PLP1, RAB9B (G34V)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 2	GBenign
Select item 2815078	NM_000533.5(PLP1):c.406G>T (p.Glu136Ter)	PLP1, RAB9B (E81* +1 more)	Single nucleotide variant (nonsense +1 more)	Hereditary spastic paraplegia 2	GPathogenic
Select item 2808135	NM_000533.5(PLP1):c.63C>T (p.Ala21=)	PLP1, RAB9B	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia 2	GBenign
Select item 2798107	NM_000533.5(PLP1):c.39G>C (p.Gly13=)	PLP1, RAB9B	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia 2	GLikely benign
Select item 2792045	NM_000533.5(PLP1):c.454-16A>G	PLP1, RAB9B	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 2	GLikely benign
Select item 2785087	NM_000533.5(PLP1):c.708C>T (p.Thr236=)	PLP1, RAB9B	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 2	GLikely benign
Select item 2782043	NM_000533.5(PLP1):c.5G>A (p.Gly2Asp)	PLP1, RAB9B (G2D)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 2	GUncertain significance
Select item 2770347	NM_000533.5(PLP1):c.453+8T>C	PLP1, RAB9B	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 2	GLikely benign
Select item 2758872	NM_000533.5(PLP1):c.766A>C (p.Thr256Pro)	PLP1, RAB9B (T256P +2 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 2	GUncertain significance
Select item 2756875	NM_000533.5(PLP1):c.642T>C (p.Ala214=)	PLP1, RAB9B	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 2	GLikely benign
Select item 2746134	NM_000533.5(PLP1):c.192-10G>A	PLP1, RAB9B	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 2	GLikely benign
Select item 2739368	NM_000533.5(PLP1):c.408G>A (p.Glu136=)	PLP1, RAB9B	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia 2	GLikely benign
Select item 2737323	NM_000533.5(PLP1):c.608A>G (p.Asp203Gly)	PLP1, RAB9B (D148G +2 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 2	GLikely pathogenic
Select item 2733781	NM_000533.5(PLP1):c.763-16C>T	PLP1, RAB9B	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 2	GLikely benign
Select item 2733207	NM_000533.5(PLP1):c.30T>C (p.Cys10=)	PLP1, RAB9B	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia 2	GLikely benign
Select item 2729993	NM_000533.5(PLP1):c.453+16A>G	PLP1, RAB9B	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 2	GLikely benign
Select item 2728359	NM_000533.5(PLP1):c.586A>G (p.Ser196Gly)	PLP1, RAB9B (S161G +2 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 2	GBenign
Select item 2727413	NM_000533.5(PLP1):c.312C>T (p.Tyr104=)	PLP1, RAB9B	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 2	GLikely benign
Select item 2725778	NM_000533.5(PLP1):c.267G>A (p.Glu89=)	PLP1, RAB9B	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 2	GLikely benign
Select item 2725325	NM_000533.5(PLP1):c.531C>T (p.Tyr177=)	PLP1, RAB9B	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 2	GLikely benign
Select item 2725190	NM_000533.5(PLP1):c.744A>T (p.Ala248=)	PLP1, RAB9B	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 2	GLikely benign
Select item 2724938	NM_000533.5(PLP1):c.279C>T (p.Thr93=)	PLP1, RAB9B	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 2	GLikely benign
Select item 2724733	NM_000533.5(PLP1):c.5-9C>G	PLP1, RAB9B	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 2	GBenign
Select item 2721940	NM_000533.5(PLP1):c.798C>T (p.Ala266=)	PLP1, RAB9B	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 2	GBenign
Select item 2716539	NM_000533.5(PLP1):c.697-12A>G	PLP1, RAB9B	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 2	GLikely benign
Select item 2716414	NM_000533.5(PLP1):c.460G>A (p.Gly154Ser)	PLP1, RAB9B (G154S +2 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 2	GBenign
Select item 2715979	NM_000533.5(PLP1):c.623-13G>T	PLP1, RAB9B	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 2	GBenign
Select item 2713052	NM_000533.5(PLP1):c.237C>T (p.Phe79=)	PLP1, RAB9B	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 2	GLikely benign
Select item 2704479	NM_000533.5(PLP1):c.176_177dup (p.Tyr60fs)	PLP1, RAB9B (Y60fs +1 more)	Duplication (frameshift variant)	Hereditary spastic paraplegia 2	GPathogenic
Select item 2700545	NM_000533.5(PLP1):c.206A>C (p.Gln69Pro)	PLP1, RAB9B (Q14P +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 2	GUncertain significance
Select item 2685759	GRCh37/hg19 Xq22.2(chrX:103038361-103312921)x2	H2BW1, H2BW2 +3 more	Copy number gain	not provided	GUncertain significance
Select item 2685715	GRCh37/hg19 Xq21.31-25(chrX:91274467-126799984)x1	ACSL4, AGTR2 +175 more	Copy number loss	not provided	GPathogenic
Select item 2685000	GRCh37/hg19 Xq21.33-22.3(chrX:96349060-106950847)x3	ARL13A, ARMCX1 +80 more	Copy number gain	not provided	GPathogenic
Select item 2684996	GRCh37/hg19 Xq21.1-24(chrX:77212972-118576590)x3	ACSL4, AGTR2 +159 more	Copy number gain	not provided	GPathogenic
Select item 2684306	NM_000533.5(PLP1):c.251C>T (p.Ala84Val)	PLP1, RAB9B (A29V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2661104	NM_000533.5(PLP1):c.453+123C>T	PLP1, RAB9B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2661103	NM_000533.4(PLP1):c.-194C>T	PLP1, RAB9B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2631183	NM_000533.5(PLP1):c.308A>G (p.Asp103Gly)	PLP1, RAB9B (D103G +1 more)	Single nucleotide variant (missense variant)	PLP1-related disorder	GUncertain significance
Select item 2585529	NM_000533.5(PLP1):c.410G>A (p.Arg137Gln)	PLP1, RAB9B (R82Q +1 more)	Single nucleotide variant (missense variant +1 more)	Pelizaeus-Merzbacher disease	GUncertain significance
Select item 2582655	NM_000533.5(PLP1):c.191+6T>C	PLP1, RAB9B	Single nucleotide variant (intron variant)	Pelizaeus-Merzbacher disease	GUncertain significance
Select item 2581156	NM_000533.5(PLP1):c.454-1G>A	PLP1, RAB9B	Single nucleotide variant (splice acceptor variant)	Pelizaeus-Merzbacher disease	GPathogenic
Select item 2575061	NM_000533.5(PLP1):c.789C>G (p.Tyr263Ter)	PLP1, RAB9B (Y208* +2 more)	Single nucleotide variant (nonsense)	Pelizaeus-Merzbacher disease +1 more	GLikely pathogenic
Select item 2572698	NM_000533.5(PLP1):c.4G>C (p.Gly2Arg)	PLP1, RAB9B (D2H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2572279	NM_000533.5(PLP1):c.749C>T (p.Thr250Ile)	PLP1, RAB9B (T195I +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2506546	GRCh37/hg19 Xp22.33-q28(chrX:200855-155240074)	BMX, CXorf38 +821 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 2504366	NM_000533.5(PLP1):c.229T>C (p.Ser77Pro)	RAB9B, PLP1 (S22P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2501596	NM_000533.5(PLP1):c.653A>G (p.Lys218Arg)	PLP1, RAB9B (K163R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2454633	NM_016370.4(RAB9B):c.265G>A (p.Val89Met)	RAB9B (V89M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2443314	NM_000533.5(PLP1):c.505T>C (p.Cys169Arg)	PLP1, RAB9B (C114R +2 more)	Single nucleotide variant (missense variant)	Pelizaeus-Merzbacher disease	GLikely pathogenic

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