ClinVar for Gene (Select 51209) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3383221	NM_000533.5(PLP1):c.254dup (p.Leu86fs)	PLP1, RAB9B (L31fs +1 more)	Duplication (frameshift variant)	Pelizaeus-Merzbacher disease	GLikely pathogenic
Select item 3375465	NM_000533.5(PLP1):c.622+1G>A	PLP1, RAB9B	Single nucleotide variant (splice donor variant)	Pelizaeus-Merzbacher disease +1 more	GPathogenic
Select item 3372968	NM_000533.5(PLP1):c.479C>T (p.Thr160Ile)	PLP1, RAB9B (T105I +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3371797	NM_000533.5(PLP1):c.589A>T (p.Ile197Leu)	PLP1, RAB9B (I142L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3369673	NM_000533.5(PLP1):c.389A>G (p.His130Arg)	PLP1, RAB9B (H130R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3369100	NM_000533.5(PLP1):c.62C>T (p.Ala21Val)	PLP1, RAB9B (A21V)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 3368619	NM_000533.5(PLP1):c.106G>A (p.Gly36Arg)	PLP1, RAB9B (G36R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3367283	NM_000533.5(PLP1):c.353C>T (p.Thr118Ile)	PLP1, RAB9B (T118I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3366901	NC_000023.10:g.(?_54610638)_(154689386_?)dup	ABCB7, ABCD1 +526 more	Duplication	Hereditary factor VIII deficiency disease	GUncertain significance
Select item 3364908	NM_000533.5(PLP1):c.67G>A (p.Gly23Arg)	PLP1, RAB9B (G23R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3363331	NM_000533.5(PLP1):c.526A>G (p.Ile176Val)	PLP1, RAB9B (I121V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3362863	NM_000533.5(PLP1):c.763-1G>T	PLP1, RAB9B	Single nucleotide variant (splice acceptor variant)	Pelizaeus-Merzbacher disease	GLikely pathogenic
Select item 3351826	NM_000533.5(PLP1):c.268G>A (p.Gly90Ser)	PLP1, RAB9B (G35S +1 more)	Single nucleotide variant (missense variant)	PLP1-related disorder	GUncertain significance
Select item 3347744	NM_000533.5(PLP1):c.4+81G>A	PLP1, RAB9B	Single nucleotide variant (intron variant)	PLP1-related disorder	GUncertain significance
Select item 3340088	NC_000023.11:g.(?_103776942)_(103790556_?)dup	PLP1, RAB9B	Duplication	Pelizaeus-Merzbacher disease	GPathogenic
Select item 3338102	NM_000533.5(PLP1):c.762G>A (p.Leu254=)	PLP1, RAB9B	Single nucleotide variant (synonymous variant)	Pelizaeus-Merzbacher disease	GLikely pathogenic
Select item 3338101	NM_000533.5(PLP1):c.697-54_711delinsTTTATT	PLP1, RAB9B	Indel (splice acceptor variant)	Pelizaeus-Merzbacher disease	GLikely pathogenic
Select item 3338067	NM_000533.5(PLP1):c.425dup (p.Leu142fs)	PLP1, RAB9B (L142fs +1 more)	Duplication (frameshift variant +1 more)	Pelizaeus-Merzbacher disease	GLikely pathogenic
Select item 3336793	NM_000533.5(PLP1):c.584C>A (p.Ala195Asp)	PLP1, RAB9B (A140D +2 more)	Single nucleotide variant (missense variant)	Pelizaeus-Merzbacher disease	GUncertain significance
Select item 3312209	NM_016370.4(RAB9B):c.401C>G (p.Thr134Ser)	RAB9B (T134S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3255463	NM_000533.5(PLP1):c.94T>C (p.Phe32Leu)	PLP1, RAB9B (F32L)	Single nucleotide variant (missense variant +1 more)	Pelizaeus-Merzbacher disease	GLikely pathogenic
Select item 3255462	NM_000533.5(PLP1):c.137T>C (p.Leu46Pro)	PLP1, RAB9B (L46P)	Single nucleotide variant (missense variant +1 more)	Pelizaeus-Merzbacher disease	GLikely pathogenic
Select item 3255461	NM_000533.5(PLP1):c.92T>G (p.Leu31Arg)	RAB9B, PLP1 (L31R)	Single nucleotide variant (missense variant +1 more)	Pelizaeus-Merzbacher disease	GLikely pathogenic
Select item 3255460	NM_000533.5(PLP1):c.834A>T (p.Ter278Cys)	PLP1, RAB9B	Single nucleotide variant (stop lost)	Pelizaeus-Merzbacher disease	GLikely pathogenic
Select item 3255459	NM_000533.5(PLP1):c.834A>G (p.Ter278Trp)	PLP1, RAB9B	Single nucleotide variant (stop lost)	Pelizaeus-Merzbacher disease	GLikely pathogenic
Select item 3255457	NM_000533.5(PLP1):c.761T>C (p.Leu254Pro)	PLP1, RAB9B (L199P +2 more)	Single nucleotide variant (missense variant)	Pelizaeus-Merzbacher disease	GLikely pathogenic
Select item 3255456	NM_000533.5(PLP1):c.758C>T (p.Ser253Phe)	PLP1, RAB9B (S198F +2 more)	Single nucleotide variant (missense variant)	Pelizaeus-Merzbacher disease	GLikely pathogenic
Select item 3255455	NM_000533.5(PLP1):c.752T>C (p.Leu251Pro)	RAB9B, PLP1 (L196P +2 more)	Single nucleotide variant (missense variant)	Pelizaeus-Merzbacher disease	GLikely pathogenic
Select item 3255454	NM_000533.5(PLP1):c.736G>T (p.Gly246Trp)	PLP1, RAB9B (G191W +2 more)	Single nucleotide variant (missense variant)	Pelizaeus-Merzbacher disease	GLikely pathogenic
Select item 3255453	NM_000533.5(PLP1):c.730T>G (p.Phe244Val)	PLP1, RAB9B (F189V +2 more)	Single nucleotide variant (missense variant)	Pelizaeus-Merzbacher disease	GLikely pathogenic
Select item 3255452	NM_000533.5(PLP1):c.728C>T (p.Ala243Val)	RAB9B, PLP1 (A188V +2 more)	Single nucleotide variant (missense variant)	Pelizaeus-Merzbacher disease	GPathogenic
Select item 3255451	NM_000533.5(PLP1):c.728C>A (p.Ala243Glu)	PLP1, RAB9B (A188E +2 more)	Single nucleotide variant (missense variant)	Pelizaeus-Merzbacher disease	GLikely pathogenic
Select item 3255450	NM_000533.5(PLP1):c.697-3C>A	PLP1, RAB9B	Single nucleotide variant (intron variant)	Pelizaeus-Merzbacher disease	GUncertain significance
Select item 3255449	NM_000533.5(PLP1):c.697-2A>C	RAB9B, PLP1	Single nucleotide variant (splice acceptor variant)	Pelizaeus-Merzbacher disease	GPathogenic
Select item 3255448	NM_000533.5(PLP1):c.676T>C (p.Ser226Pro)	PLP1, RAB9B (S171P +2 more)	Single nucleotide variant (missense variant)	Pelizaeus-Merzbacher disease	GLikely pathogenic
Select item 3255447	NM_000533.5(PLP1):c.658T>C (p.Cys220Arg)	PLP1, RAB9B (C165R +2 more)	Single nucleotide variant (missense variant)	Pelizaeus-Merzbacher disease	GLikely pathogenic
Select item 3255446	NM_000533.5(PLP1):c.125G>A (p.Gly42Asp)	PLP1, RAB9B (G42D)	Single nucleotide variant (missense variant +1 more)	Pelizaeus-Merzbacher disease	GLikely pathogenic
Select item 3255445	NM_000533.5(PLP1):c.656T>G (p.Val219Gly)	RAB9B, PLP1 (V164G +2 more)	Single nucleotide variant (missense variant)	Pelizaeus-Merzbacher disease	GLikely pathogenic
Select item 3255444	NM_000533.5(PLP1):c.644del (p.Phe215fs)	PLP1, RAB9B (F160fs +2 more)	Deletion (frameshift variant)	Pelizaeus-Merzbacher disease	GLikely pathogenic
Select item 3255443	NM_000533.5(PLP1):c.628C>T (p.Leu210Phe)	PLP1, RAB9B (L155F +2 more)	Single nucleotide variant (missense variant)	Pelizaeus-Merzbacher disease	GLikely pathogenic
Select item 3255442	NM_000533.5(PLP1):c.619T>C (p.Tyr207His)	RAB9B, PLP1 (Y152H +2 more)	Single nucleotide variant (missense variant)	Pelizaeus-Merzbacher disease	GLikely pathogenic
Select item 3255441	NM_000533.5(PLP1):c.619T>A (p.Tyr207Asn)	PLP1, RAB9B (Y152N +2 more)	Single nucleotide variant (missense variant)	Pelizaeus-Merzbacher disease	GLikely pathogenic
Select item 3255440	NM_000533.5(PLP1):c.613del (p.Arg205fs)	PLP1, RAB9B (R150fs +2 more)	Deletion (frameshift variant)	Pelizaeus-Merzbacher disease	GPathogenic
Select item 3255439	NM_000533.5(PLP1):c.56T>C (p.Leu19Pro)	RAB9B, PLP1 (L19P)	Single nucleotide variant (missense variant +1 more)	Pelizaeus-Merzbacher disease	GLikely pathogenic
Select item 3255438	NM_000533.5(PLP1):c.121A>C (p.Thr41Pro)	PLP1, RAB9B (T41P)	Single nucleotide variant (missense variant +1 more)	Pelizaeus-Merzbacher disease	GLikely pathogenic
Select item 3255437	NM_000533.5(PLP1):c.517C>T (p.Pro173Ser)	PLP1, RAB9B (P118S +2 more)	Single nucleotide variant (missense variant)	Pelizaeus-Merzbacher disease	GLikely pathogenic
Select item 3255436	NM_000533.5(PLP1):c.51_54del (p.Ser18fs)	PLP1, RAB9B (S18fs)	Deletion (frameshift variant +1 more)	Pelizaeus-Merzbacher disease	GLikely pathogenic
Select item 3255435	NM_000533.5(PLP1):c.476T>C (p.Leu159Pro)	PLP1, RAB9B (L104P +2 more)	Single nucleotide variant (missense variant)	Pelizaeus-Merzbacher disease	GUncertain significance
Select item 3255434	NM_000533.5(PLP1):c.458del (p.Val153fs)	PLP1, RAB9B (V118fs +2 more)	Deletion (frameshift variant)	Pelizaeus-Merzbacher disease	GLikely pathogenic
Select item 3255433	NM_000533.5(PLP1):c.454-314T>A	PLP1, RAB9B	Single nucleotide variant (intron variant)	Pelizaeus-Merzbacher disease	GLikely pathogenic
Select item 3255432	NM_000533.5(PLP1):c.454-2A>G	PLP1, RAB9B	Single nucleotide variant (splice acceptor variant)	Pelizaeus-Merzbacher disease	GPathogenic
Select item 3255431	NM_000533.5(PLP1):c.454-1G>T	PLP1, RAB9B	Single nucleotide variant (splice acceptor variant)	Pelizaeus-Merzbacher disease	GPathogenic
Select item 3255430	NM_000533.5(PLP1):c.453G>T (p.Lys151Asn)	PLP1, RAB9B (K151N +1 more)	Single nucleotide variant (missense variant +1 more)	Pelizaeus-Merzbacher disease	GLikely pathogenic
Select item 3255429	NM_000533.5(PLP1):c.119T>A (p.Leu40His)	PLP1, RAB9B (L40H)	Single nucleotide variant (missense variant +1 more)	Pelizaeus-Merzbacher disease	GLikely pathogenic
Select item 3255428	NM_000533.5(PLP1):c.453+7A>G	PLP1, RAB9B	Single nucleotide variant (intron variant)	Pelizaeus-Merzbacher disease	GUncertain significance
Select item 3255427	NM_000533.5(PLP1):c.430A>T (p.Lys144Ter)	PLP1, RAB9B (K144* +1 more)	Single nucleotide variant (nonsense +1 more)	Pelizaeus-Merzbacher disease	GLikely pathogenic
Select item 3255426	NM_000533.5(PLP1):c.113_115del (p.Glu38del)	PLP1, RAB9B (E38del)	Deletion (inframe_deletion +1 more)	Pelizaeus-Merzbacher disease	GLikely pathogenic
Select item 3255425	NM_000533.5(PLP1):c.412del (p.Val138fs)	PLP1, RAB9B (V138fs +1 more)	Deletion (frameshift variant +1 more)	Pelizaeus-Merzbacher disease	GLikely pathogenic
Select item 3255424	NM_000533.5(PLP1):c.385C>T (p.Gln129Ter)	PLP1, RAB9B (Q129* +1 more)	Single nucleotide variant (nonsense +1 more)	Pelizaeus-Merzbacher disease	GLikely pathogenic
Select item 3255423	NM_000533.5(PLP1):c.384C>T (p.Gly128=)	PLP1, RAB9B	Single nucleotide variant (synonymous variant +1 more)	Pelizaeus-Merzbacher disease	GUncertain significance
Select item 3255422	NM_000533.5(PLP1):c.377C>T (p.Ser126Phe)	PLP1, RAB9B (S126F +1 more)	Single nucleotide variant (missense variant +1 more)	Pelizaeus-Merzbacher disease	GUncertain significance
Select item 3255421	NM_000533.5(PLP1):c.359del (p.Gly120fs)	PLP1, RAB9B (G120fs +1 more)	Deletion (frameshift variant +1 more)	Pelizaeus-Merzbacher disease	GLikely pathogenic
Select item 3255420	NM_000533.5(PLP1):c.347C>A (p.Thr116Lys)	PLP1, RAB9B (T116K +1 more)	Single nucleotide variant (missense variant)	Pelizaeus-Merzbacher disease	GLikely pathogenic
Select item 3255419	NM_000533.5(PLP1):c.2T>A (p.Met1Lys)	PLP1, RAB9B (M1K)	Single nucleotide variant (missense variant +1 more)	Pelizaeus-Merzbacher disease	GPathogenic
Select item 3255418	NM_000533.5(PLP1):c.282del (p.Gly95fs)	PLP1, RAB9B (G40fs +1 more)	Deletion (frameshift variant)	Pelizaeus-Merzbacher disease	GPathogenic
Select item 3255417	NM_000533.5(PLP1):c.260T>C (p.Leu87Pro)	PLP1, RAB9B (L32P +1 more)	Single nucleotide variant (missense variant)	Pelizaeus-Merzbacher disease	GLikely pathogenic
Select item 3255416	NM_000533.5(PLP1):c.254T>G (p.Leu85Arg)	PLP1, RAB9B (L30R +1 more)	Single nucleotide variant (missense variant)	Pelizaeus-Merzbacher disease	GLikely pathogenic
Select item 3255415	NM_000533.5(PLP1):c.242T>G (p.Leu81Arg)	PLP1, RAB9B (L26R +1 more)	Single nucleotide variant (missense variant)	Pelizaeus-Merzbacher disease	GLikely pathogenic
Select item 3255414	NM_000533.5(PLP1):c.230C>A (p.Ser77Tyr)	PLP1, RAB9B (S22Y +1 more)	Single nucleotide variant (missense variant)	Pelizaeus-Merzbacher disease	GUncertain significance
Select item 3255413	NM_000533.5(PLP1):c.105T>A (p.Cys35Ter)	PLP1, RAB9B (C35*)	Single nucleotide variant (nonsense +1 more)	Pelizaeus-Merzbacher disease	GLikely pathogenic
Select item 3255412	NM_000533.5(PLP1):c.226_231dup (p.Ser77_Phe78insAlaSer)	PLP1, RAB9B	Duplication (inframe_insertion)	Pelizaeus-Merzbacher disease	GUncertain significance
Select item 3255411	NM_000533.5(PLP1):c.223A>C (p.Thr75Pro)	PLP1, RAB9B (T20P +1 more)	Single nucleotide variant (missense variant)	Pelizaeus-Merzbacher disease	GUncertain significance
Select item 3255410	NM_000533.5(PLP1):c.221G>A (p.Gly74Glu)	PLP1, RAB9B (G19E +1 more)	Single nucleotide variant (missense variant)	Pelizaeus-Merzbacher disease	GLikely pathogenic
Select item 3255409	NM_000533.5(PLP1):c.212T>A (p.Val71Asp)	RAB9B, PLP1 (V16D +1 more)	Single nucleotide variant (missense variant)	Pelizaeus-Merzbacher disease	GUncertain significance
Select item 3255408	NM_000533.5(PLP1):c.206A>T (p.Gln69Leu)	RAB9B, PLP1 (Q14L +1 more)	Single nucleotide variant (missense variant)	Pelizaeus-Merzbacher disease	GLikely pathogenic
Select item 3255407	NM_000533.5(PLP1):c.192-2A>G	PLP1, RAB9B	Single nucleotide variant (splice acceptor variant)	Pelizaeus-Merzbacher disease	GLikely pathogenic
Select item 3255406	NM_000533.5(PLP1):c.192-2A>C	PLP1, RAB9B	Single nucleotide variant (splice acceptor variant)	Pelizaeus-Merzbacher disease	GLikely pathogenic
Select item 3255405	NM_000533.5(PLP1):c.191+4A>G	RAB9B, PLP1	Single nucleotide variant (intron variant)	Pelizaeus-Merzbacher disease	GUncertain significance
Select item 3255404	NM_000533.5(PLP1):c.151T>G (p.Phe51Val)	PLP1, RAB9B (F51V)	Single nucleotide variant (missense variant +1 more)	Pelizaeus-Merzbacher disease	GLikely pathogenic
Select item 3255403	NM_000533.5(PLP1):c.103T>C (p.Cys35Arg)	PLP1, RAB9B (C35R)	Single nucleotide variant (missense variant +1 more)	Pelizaeus-Merzbacher disease	GLikely pathogenic
Select item 3255183	NM_000533.5(PLP1):c.214A>C (p.Ile72Leu)	PLP1, RAB9B (I17L +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 2	GUncertain significance
Select item 3252101	NM_000533.5(PLP1):c.623-2A>C	PLP1, RAB9B	Single nucleotide variant (splice acceptor variant)	Pelizaeus-Merzbacher disease	GLikely pathogenic
Select item 3252100	NM_000533.5(PLP1):c.554_564del (p.Gln185fs)	PLP1, RAB9B (Q130fs +2 more)	Deletion (frameshift variant)	Pelizaeus-Merzbacher disease	GLikely pathogenic
Select item 3252099	NM_000533.5(PLP1):c.406_422del (p.Glu136fs)	PLP1, RAB9B (E136fs +1 more)	Deletion (frameshift variant +1 more)	Pelizaeus-Merzbacher disease	GPathogenic
Select item 3252098	NM_000533.5(PLP1):c.380_392del (p.Arg127fs)	PLP1, RAB9B (R127fs +1 more)	Deletion (frameshift variant +1 more)	Pelizaeus-Merzbacher disease	GPathogenic
Select item 3242589	GRCh38/hg38 Xp22.33-q28(chrX:2757837-156030895)x2	LOC130068417, LOC130068418 +2599 more	Copy number gain	Klinefelter syndrome	GPathogenic
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)	Pelizaeus-Merzbacher disease	GLikely pathogenic
Select item 3024654	GRCh37/hg19 Xq12-28(chrX:67292994-155240074)x3	CT47A5, NXF3 +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

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