ClinVar for MedGen (Select 61440) - ClinVar

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Items: 65

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3061922	NM_000533.5(PLP1):c.398A>T (p.His133Leu)	PLP1, RAB9B (H133L +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 2 +1 more	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 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
Select item 2431616	NM_000533.5(PLP1):c.4+5G>A	PLP1, RAB9B	Single nucleotide variant (intron variant)	Pelizaeus-Merzbacher disease	GUncertain significance
Select item 1878514	NM_000533.5(PLP1):c.754del (p.Val252fs)	PLP1, RAB9B (V197fs +2 more)	Deletion (frameshift variant)	Pelizaeus-Merzbacher disease +1 more	GPathogenic/Likely pathogenic
Select item 1810757	Single allele	LOC130068514, PLP1 +6 more	Complex	Pelizaeus-Merzbacher disease	GUncertain significance
Select item 1699073	NM_000533.5(PLP1):c.226G>C (p.Ala76Pro)	PLP1, RAB9B (A21P +1 more)	Single nucleotide variant (missense variant)	Pelizaeus-Merzbacher disease	GLikely pathogenic
Select item 1691851	NM_000533.5(PLP1):c.74G>T (p.Cys25Phe)	PLP1, RAB9B (C25F)	Single nucleotide variant (missense variant +1 more)	Pelizaeus-Merzbacher disease	GUncertain significance
Select item 1686084	NM_000533.5(PLP1):c.665C>G (p.Ser222Cys)	PLP1, RAB9B (S167C +2 more)	Single nucleotide variant (missense variant)	Pelizaeus-Merzbacher disease	GPathogenic
Select item 1479235	NM_000533.5(PLP1):c.98G>T (p.Cys33Phe)	PLP1, RAB9B (C33F)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 2 +1 more	GUncertain significance
Select item 1410675	NM_000533.5(PLP1):c.634T>C (p.Trp212Arg)	PLP1, RAB9B (W212R +2 more)	Single nucleotide variant (missense variant)	Pelizaeus-Merzbacher disease +1 more	GConflicting classifications of pathogenicity
Select item 1344466	NM_000533.5(PLP1):c.442C>T (p.His148Tyr)	PLP1, RAB9B (H148Y +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia +2 more	GPathogenic/Likely pathogenic
Select item 1338982	NM_000533.5(PLP1):c.762+1G>A	PLP1, RAB9B	Single nucleotide variant (splice donor variant)	Pelizaeus-Merzbacher disease	GUncertain significance
Select item 1333281	NM_000533.5(PLP1):c.543G>C (p.Trp181Cys)	PLP1, RAB9B (W126C +2 more)	Single nucleotide variant (missense variant)	Pelizaeus-Merzbacher disease	GUncertain significance
Select item 1327425	NM_000533.5(PLP1):c.622+28C>G	PLP1, RAB9B	Single nucleotide variant (intron variant)	Pelizaeus-Merzbacher disease +1 more	GBenign
Select item 1077188	Single allele	BEX2, BEX3 +12 more	Duplication	Pelizaeus-Merzbacher disease +1 more	GPathogenic
Select item 1028821	NM_000533.5(PLP1):c.454-20C>A	PLP1, RAB9B	Single nucleotide variant (intron variant)	Pelizaeus-Merzbacher disease	GUncertain significance
Select item 1028820	NM_000533.5(PLP1):c.21T>A (p.Cys7Ter)	PLP1, RAB9B (C7*)	Single nucleotide variant (nonsense +1 more)	Pelizaeus-Merzbacher disease	GPathogenic
Select item 931338	NM_000533.5(PLP1):c.743C>A (p.Ala248Glu)	RAB9B, PLP1 (A193E +2 more)	Single nucleotide variant (missense variant)	Pelizaeus-Merzbacher disease	GLikely pathogenic
Select item 930478	NM_000533.5(PLP1):c.173A>G (p.Tyr58Cys)	PLP1, RAB9B (Y58C +1 more)	Single nucleotide variant (missense variant)	Pelizaeus-Merzbacher disease	GPathogenic
Select item 816707	NM_000533.5(PLP1):c.454-312C>G	PLP1, RAB9B	Single nucleotide variant (intron variant)	Pelizaeus-Merzbacher disease	Gnot provided
Select item 816706	NM_000533.5(PLP1):c.453+164G>A	PLP1, RAB9B	Single nucleotide variant (intron variant)	Pelizaeus-Merzbacher disease	Gnot provided
Select item 816705	NM_000533.5(PLP1):c.453+159G>A	PLP1, RAB9B	Single nucleotide variant (intron variant)	Pelizaeus-Merzbacher disease	Gnot provided
Select item 816628	NM_000533.5(PLP1):c.709T>G (p.Phe237Val)	PLP1, RAB9B (F182V +2 more)	Single nucleotide variant (missense variant)	Pelizaeus-Merzbacher disease	GLikely pathogenic
Select item 804068	NM_000533.5(PLP1):c.551G>A (p.Cys184Tyr)	PLP1, RAB9B (C184Y +2 more)	Single nucleotide variant (missense variant)	Pelizaeus-Merzbacher disease	GLikely pathogenic
Select item 804067	NM_000533.5(PLP1):c.295C>T (p.Gln99Ter)	PLP1, RAB9B (Q44* +1 more)	Single nucleotide variant (nonsense)	Pelizaeus-Merzbacher disease	GPathogenic
Select item 635342	NM_020435.4(GJC2):c.591dup (p.His198fs)	GJC2 (H198fs)	Duplication (frameshift variant)	Spastic paraplegia +1 more	GPathogenic/Likely 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 623303	NM_020435.4(GJC2):c.-20G>C	GJC2	Single nucleotide variant (5 prime UTR variant)	Pelizaeus-Merzbacher disease	GUncertain significance
Select item 561090	NM_000533.5(PLP1):c.677C>G (p.Ser226Cys)	PLP1, RAB9B (S226C +2 more)	Single nucleotide variant (missense variant)	Pelizaeus-Merzbacher disease +1 more	GUncertain significance
Select item 561089	NM_000533.5(PLP1):c.41C>A (p.Ala14Asp)	PLP1, RAB9B (A14D)	Single nucleotide variant (missense variant +1 more)	Pelizaeus-Merzbacher disease +1 more	GUncertain significance
Select item 561088	NM_000533.5(PLP1):c.166C>T (p.Gln56Ter)	PLP1, RAB9B (Q56*)	Single nucleotide variant (nonsense +1 more)	Pelizaeus-Merzbacher disease	GPathogenic
Select item 547754	NM_000533.5(PLP1):c.518C>G (p.Pro173Arg)	PLP1, RAB9B (P173R +2 more)	Single nucleotide variant (missense variant)	Pelizaeus-Merzbacher disease	GUncertain significance
Select item 545437	NM_000533.5(PLP1):c.658T>G (p.Cys220Gly)	PLP1, RAB9B (C220G +2 more)	Single nucleotide variant (missense variant)	Pelizaeus-Merzbacher disease +1 more	GLikely pathogenic
Select item 520586	NM_000533.5(PLP1):c.354_355del (p.Gly120fs)	PLP1, RAB9B (G65fs +1 more)	Deletion (frameshift variant +1 more)	not provided +3 more	GPathogenic
Select item 503691	NM_000533.5(PLP1):c.453+2T>C	PLP1, RAB9B	Single nucleotide variant (splice donor variant +1 more)	not provided	GPathogenic
Select item 496683	NM_000533.5(PLP1):c.617T>G (p.Met206Arg)	PLP1, RAB9B (M206R +2 more)	Single nucleotide variant (missense variant)	Pelizaeus-Merzbacher disease	GLikely pathogenic
Select item 431701	NM_000533.5(PLP1):c.384_393del (p.Gln129fs)	PLP1, RAB9B (Q129fs +1 more)	Deletion (frameshift variant +1 more)	Pelizaeus-Merzbacher disease	GPathogenic
Select item 405941	NM_000533.5(PLP1):c.140T>C (p.Ile47Thr)	PLP1, RAB9B (I47T)	Single nucleotide variant (missense variant +1 more)	Pelizaeus-Merzbacher disease +1 more	GLikely pathogenic
Select item 397513	NM_000533.5(PLP1):c.175G>T (p.Glu59Ter)	PLP1, RAB9B (E59* +1 more)	Single nucleotide variant (nonsense)	Pelizaeus-Merzbacher disease	GPathogenic
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 220658	NM_000533.5(PLP1):c.-31C>T	RAB9B, PLP1	Single nucleotide variant (5 prime UTR variant)	Pelizaeus-Merzbacher disease +2 more	GBenign/Likely benign
Select item 211916	NM_000533.5(PLP1):c.49G>A (p.Ala17Thr)	PLP1, RAB9B (A17T)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GUncertain significance
Select item 209183	NM_000533.5(PLP1):c.1A>G (p.Met1Val)	PLP1, RAB9B (M1V)	Single nucleotide variant (missense variant +1 more)	Pelizaeus-Merzbacher disease +1 more	GPathogenic
Select item 129975	NM_000533.5(PLP1):c.168A>G (p.Gln56=)	PLP1, RAB9B	Single nucleotide variant (synonymous variant +1 more)	PLP1-related condition +5 more	GBenign/Likely benign
Select item 93232	NM_000533.5(PLP1):c.609T>C (p.Asp203=)	PLP1, RAB9B	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +5 more	GBenign
Select item 11099	NM_000533.5(PLP1):c.169G>T (p.Asp57Tyr)	PLP1, RAB9B (D57Y)	Single nucleotide variant (missense variant +1 more)	Pelizaeus-Merzbacher disease	GPathogenic
Select item 11096	NM_000533.5(PLP1):c.453+4A>G	PLP1, RAB9B	Single nucleotide variant (intron variant)	Pelizaeus-Merzbacher disease	GPathogenic
Select item 11094	NM_000533.5(PLP1):c.762+3G>T	PLP1, RAB9B	Single nucleotide variant (intron variant)	Pelizaeus-Merzbacher disease	GPathogenic
Select item 11093	NC_000023.11:g.(103477300_103776506)_(104039333_104817980)dup	H2BW2, IL1RAPL2 +32 more	Duplication	Pelizaeus-Merzbacher disease	GPathogenic
Select item 11086	NM_000533.5(PLP1):c.128C>T (p.Thr43Ile)	RAB9B, PLP1 (T43I)	Single nucleotide variant (missense variant +1 more)	Pelizaeus-Merzbacher disease	GPathogenic
Select item 11082	NM_000533.5(PLP1):c.220G>A (p.Gly74Arg)	PLP1, RAB9B (G74R +1 more)	Single nucleotide variant (missense variant)	Pelizaeus-Merzbacher disease	GPathogenic
Select item 11081	NM_000533.5(PLP1):c.607G>C (p.Asp203His)	RAB9B, PLP1 (D168H +2 more)	Single nucleotide variant (missense variant)	Pelizaeus-Merzbacher disease	GPathogenic
Select item 11080	NM_000533.5(PLP1):c.671T>C (p.Leu224Pro)	PLP1, RAB9B (L189P +2 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 2	GUncertain significance
Select item 11079	NM_000533.5(PLP1):c.544A>C (p.Thr182Pro)	PLP1, RAB9B (T147P +2 more)	Single nucleotide variant (missense variant)	Pelizaeus-Merzbacher disease	GPathogenic
Select item 11078	NC_000023.11:g.(?_103776506)_(103799000_104817980)del	FAM199X, H2BW1 +16 more	Deletion	Pelizaeus-Merzbacher disease	GPathogenic
Select item 11077	NM_000533.5(PLP1):c.655G>T (p.Val219Phe)	PLP1, RAB9B (V184F +2 more)	Single nucleotide variant (missense variant)	Pelizaeus-Merzbacher disease	GPathogenic
Select item 11076	NM_000533.5(PLP1):c.467C>T (p.Thr156Ile)	PLP1, RAB9B (T121I +2 more)	Single nucleotide variant (missense variant)	Pelizaeus-Merzbacher disease	GPathogenic
Select item 11075	NM_000533.5(PLP1):c.44C>T (p.Pro15Leu)	RAB9B, PLP1 (P15L)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 2	GPathogenic
Select item 11074	NM_000533.5(PLP1):c.487T>C (p.Trp163Arg)	PLP1, RAB9B (W128R +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 11073	NM_000533.5(PLP1):c.646C>T (p.Pro216Ser)	PLP1, RAB9B (P181S +2 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic

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Items: 65