"GeneDx"[submitter] AND "PLP1"[gene] - ClinVar

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Items: 83

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145168	GRCh38/hg38 Xq21.1-28(chrX:78605009-156016560)x1	LOC125467786, LOC125467787 +1203 more	Copy number loss	See cases	GPathogenic
Select item 58661	GRCh38/hg38 Xq21.1-25(chrX:81261589-126519353)x3	LOC126863293, LOC126863294 +478 more	Copy number gain	See cases	GPathogenic
Select item 57973	GRCh38/hg38 Xq22.1-22.3(chrX:101407698-106274188)x1	ARMCX1, ARMCX2 +90 more	Copy number loss	See cases	GPathogenic
Select item 58664	GRCh38/hg38 Xq22.1-22.3(chrX:101620923-107632397)x3	ARMCX2, ARMCX3 +108 more	Copy number gain	See cases	GPathogenic
Select item 152902	GRCh38/hg38 Xq22.2(chrX:103602874-103881017)x2	LOC113845781, LOC126863297 +11 more	Copy number gain	See cases	GPathogenic
Select item 1238621	NM_001128834.3(PLP1):c.-143-78dup	PLP1, RAB9B	Duplication (intron variant)	not provided	GBenign
Select item 1202257	NM_001128834.3(PLP1):c.-143-77_-143-68del	PLP1, RAB9B	Deletion (intron variant)	not provided	GLikely benign
Select item 220658	NM_000533.5(PLP1):c.-31C>T	PLP1, RAB9B	Single nucleotide variant (5 prime UTR variant)	Pelizaeus-Merzbacher disease +2 more	GBenign/Likely benign
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 670482	NM_000533.5(PLP1):c.5-111T>C	PLP1, RAB9B	Single nucleotide variant (intron variant)	not provided	GBenign
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 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 938189	NM_000533.5(PLP1):c.85G>T (p.Val29Leu)	PLP1, RAB9B (V29L)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 420045	NM_000533.5(PLP1):c.98G>A (p.Cys33Tyr)	PLP1, RAB9B (C33Y)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 626281	NM_000533.5(PLP1):c.104G>A (p.Cys35Tyr)	PLP1, RAB9B (C35Y)	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 280862	NM_000533.5(PLP1):c.191+1G>T	PLP1, RAB9B	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 265416	NM_000533.5(PLP1):c.191+1G>A	PLP1, RAB9B	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic
Select item 679512	NM_000533.5(PLP1):c.192-69T>C	PLP1, RAB9B	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 1303752	NM_000533.5(PLP1):c.319A>G (p.Thr107Ala)	PLP1, RAB9B (T107A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1313797	NM_000533.5(PLP1):c.328G>T (p.Gly110Cys)	PLP1, RAB9B (G110C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1303907	NM_000533.5(PLP1):c.328G>A (p.Gly110Ser)	PLP1, RAB9B (G110S +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 2 +1 more	GUncertain significance
Select item 451093	NM_000533.5(PLP1):c.332A>C (p.Lys111Thr)	RAB9B, PLP1 (K111T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2442713	NM_000533.5(PLP1):c.347C>G (p.Thr116Arg)	RAB9B, PLP1 (T116R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1206903	NM_000533.5(PLP1):c.347C>T (p.Thr116Met)	PLP1, RAB9B (T116M +1 more)	Single nucleotide variant (missense variant)	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 520586	NM_000533.5(PLP1):c.354_355del (p.Gly120fs)	PLP1, RAB9B (G65fs +1 more)	Deletion (frameshift variant +1 more)	Pelizaeus-Merzbacher disease +3 more	GPathogenic/Likely pathogenic
Select item 1329803	NM_000533.5(PLP1):c.387A>T (p.Gln129His)	PLP1, RAB9B (Q129H +1 more)	Single nucleotide variant (missense variant +1 more)	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 489362	NM_000533.5(PLP1):c.453+1G>C	PLP1, RAB9B	Single nucleotide variant (splice donor variant +1 more)	not provided	GPathogenic
Select item 503691	NM_000533.5(PLP1):c.453+2T>C	PLP1, RAB9B	Single nucleotide variant (splice donor variant +1 more)	Pelizaeus-Merzbacher disease +1 more	GPathogenic/Likely pathogenic
Select item 432514	NM_000533.5(PLP1):c.453+3G>C	PLP1, RAB9B	Single nucleotide variant (intron variant)	not provided	GLikely pathogenic
Select item 816705	NM_000533.5(PLP1):c.453+159G>A	PLP1, RAB9B	Single nucleotide variant (intron variant)	not provided	GPathogenic
Select item 1195067	NM_000533.5(PLP1):c.453+416T>G	PLP1, RAB9B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1230836	NM_000533.5(PLP1):c.454-463G>A	PLP1, RAB9B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1289587	NM_000533.5(PLP1):c.454-371G>A	PLP1, RAB9B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1698358	NM_000533.5(PLP1):c.454-10A>G	PLP1, RAB9B	Single nucleotide variant (intron variant)	not provided	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 11092	NM_000533.5(PLP1):c.509C>T (p.Ser170Phe)	RAB9B, PLP1 (S135F +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
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 423301	NM_000533.5(PLP1):c.531C>A (p.Tyr177Ter)	PLP1, RAB9B (Y177* +2 more)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 1810629	NM_000533.5(PLP1):c.565T>C (p.Phe189Leu)	PLP1, RAB9B (F154L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2129393	NM_000533.5(PLP1):c.584C>T (p.Ala195Val)	PLP1, RAB9B (A160V +2 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 2 +1 more	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 265417	NM_000533.5(PLP1):c.607G>A (p.Asp203Asn)	PLP1, RAB9B (D203N +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 93232	NM_000533.5(PLP1):c.609T>C (p.Asp203=)	RAB9B, PLP1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +5 more	GBenign
Select item 1342074	NM_000533.5(PLP1):c.610G>A (p.Ala204Thr)	PLP1, RAB9B (A149T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1283140	NM_000533.5(PLP1):c.622+235A>G	PLP1, RAB9B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1068182	NM_000533.5(PLP1):c.647C>T (p.Pro216Leu)	PLP1, RAB9B (P161L +2 more)	Single nucleotide variant (missense variant)	Pelizaeus-Merzbacher disease +2 more	GLikely pathogenic
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 280441	NM_000533.5(PLP1):c.673del (p.Leu225fs)	RAB9B, PLP1 (L225fs +2 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2138678	NM_000533.5(PLP1):c.674T>C (p.Leu225Pro)	PLP1, RAB9B (L190P +2 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 2 +1 more	GConflicting classifications of pathogenicity
Select item 985224	NM_000533.5(PLP1):c.696+1G>A	PLP1, RAB9B	Single nucleotide variant (splice donor variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 1233526	NM_000533.5(PLP1):c.696+295T>G	PLP1, RAB9B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 817891	NM_000533.5(PLP1):c.712_713insTGCAGTTCCAAATG (p.His238fs)	RAB9B, PLP1 (H238fs +2 more)	Insertion (frameshift variant)	Hereditary spastic paraplegia 2 +1 more	GPathogenic/Likely pathogenic
Select item 817275	NM_000533.5(PLP1):c.739del (p.Ala247fs)	RAB9B, PLP1 (A192fs +2 more)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 1505601	NM_000533.5(PLP1):c.736G>A (p.Gly246Arg)	PLP1, RAB9B (G191R +2 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 2 +1 more	GConflicting classifications of pathogenicity
Select item 286873	NM_000533.5(PLP1):c.739G>A (p.Ala247Thr)	PLP1, RAB9B (A247T +2 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 1309900	NM_000533.5(PLP1):c.742G>A (p.Ala248Thr)	PLP1, RAB9B (A193T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 265341	NM_000533.5(PLP1):c.762+2T>C	PLP1, RAB9B	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 667557	NM_000533.5(PLP1):c.763-304dup	PLP1, RAB9B	Duplication (intron variant)	not provided	GBenign
Select item 1344467	NM_000533.5(PLP1):c.763C>T (p.Leu255Phe)	PLP1, RAB9B (L200F +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 448087	NM_000533.5(PLP1):c.789C>A (p.Tyr263Ter)	PLP1, RAB9B (Y263* +2 more)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 1700476	NM_000533.5(PLP1):c.829T>C (p.Phe277Leu)	PLP1, RAB9B (F222L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1280842	NM_000533.5(PLP1):c.*102C>T	PLP1, RAB9B	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 253652	GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3	ABCB7, ABCD1 +819 more	Copy number gain	See cases	GPathogenic
Select item 253624	GRCh37/hg19 Xp22.33-q28(chrX:60701-155246271)x3	TMEM255A, TMEM31 +819 more	Copy number gain	See cases	GPathogenic
Select item 253616	GRCh37/hg19 Xq11.1-28(chrX:62063537-155246643)x3	ABCB7, ABCD1 +503 more	Copy number gain	See cases	GPathogenic
Select item 253613	GRCh37/hg19 Xp22.2-q28(chrX:13147668-155250222)x3	ABCB7, ABCD1 +783 more	Copy number gain	See cases	GPathogenic
Select item 253602	GRCh37/hg19 Xp22.33-q28(chrX:176426-155236656)x3	ABCB7, ABCD1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253583	GRCh37/hg19 Xp22.33-q28(chrX:225816-155234036)x2	PNMA3, PLP1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253572	GRCh37/hg19 Xq11.1-28(chrX:62063537-155250222)x3	ABCB7, ABCD1 +503 more	Copy number gain	See cases	GPathogenic
Select item 253519	GRCh37/hg19 Xq22.2(chrX:102774255-103167770)x3	RAB9B, TMEM31 +6 more	Copy number gain	See cases	GPathogenic
Select item 253495	GRCh37/hg19 Xp22.33-q28(chrX:71267-155224766)x1	MAGEB4, MAGEB5 +818 more	Copy number loss	See cases	GPathogenic
Select item 253492	GRCh37/hg19 Xp22.33-q28(chrX:71267-155255839)x1	ABCB7, ABCD1 +819 more	Copy number loss	See cases	GPathogenic
Select item 253487	GRCh37/hg19 Xp22.33-q28(chrX:2707626-155250222)x2	RPS6KA3, RPS6KA6 +819 more	Copy number gain	See cases	GPathogenic
Select item 253460	GRCh37/hg19 Xq22.2(chrX:103031174-103046823)x0	PLP1	Copy number loss	See cases	GPathogenic
Select item 253458	GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x2	ABCB7, ABCD1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253438	GRCh37/hg19 Xp22.33-q28(chrX:176426-155250222)x3	RRAGB, RS1 +819 more	Copy number gain	See cases	GPathogenic
Select item 253432	GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x3	ARL13A, ARMCX1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253389	GRCh37/hg19 Xp22.33-q28(chrX:71267-155234036)x2	HDAC6, HTATSF1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253376	GRCh37/hg19 Xp22.33-q28(chrX:70297-155255839)x3	ABCB7, ABCD1 +819 more	Copy number gain	See cases	GPathogenic

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Items: 83