ClinVar for MedGen (Select 98291) - ClinVar

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Items: 73

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2580333	GRCh37/hg19 17p12(chr17:14095256-15477547)x1	CDRT15, CDRT4 +6 more	Copy number loss	Hereditary liability to pressure palsies	GPathogenic
Select item 1703548	GRCh37/hg19 17p12(chr17:14076989-15473312)	CDRT15, CDRT4 +6 more	Copy number loss	Hereditary liability to pressure palsies	GPathogenic
Select item 1339912	GRCh37/hg19 17p12-11.2(chr17:12524223-16047567)x1	ADORA2B, ARHGAP44 +18 more	Copy number loss	Hereditary liability to pressure palsies	Gnot provided
Select item 1177481	GRCh37/hg19 17p12(chr17:15133096-15164093)x1	PMP22	Copy number loss	Hereditary liability to pressure palsies	Gnot provided
Select item 918001	NM_000304.4(PMP22):c.197A>C (p.Gln66Pro)	PMP22 (Q66P)	Single nucleotide variant (missense variant +1 more)	Hereditary liability to pressure palsies	GUncertain significance
Select item 892337	NM_000304.4(PMP22):c.407A>C (p.Tyr136Ser)	PMP22 (Y136S)	Single nucleotide variant (missense variant +1 more)	Hereditary liability to pressure palsies +2 more	GUncertain significance
Select item 892285	NM_000304.4(PMP22):c.*376C>T	PMP22	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease, type I +1 more	GBenign
Select item 892221	NM_000304.4(PMP22):c.*961C>G	PMP22	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease, type I +1 more	GUncertain significance
Select item 891196	NM_000304.4(PMP22):c.-86A>C	PMP22	Single nucleotide variant (5 prime UTR variant +1 more)	Charcot-Marie-Tooth disease, type I +2 more	GBenign/Likely benign
Select item 891069	NM_000304.4(PMP22):c.*544C>T	PMP22	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease, type I +1 more	GUncertain significance
Select item 891068	NM_000304.4(PMP22):c.*596G>T	PMP22	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease, type I +1 more	GUncertain significance
Select item 890583	NM_000304.4(PMP22):c.*63A>C	PMP22	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease, type I +1 more	GUncertain significance
Select item 890582	NM_000304.4(PMP22):c.*174G>A	PMP22	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease, type I +1 more	GUncertain significance
Select item 890504	NM_000304.4(PMP22):c.*818T>C	PMP22	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease, type I +1 more	GUncertain significance
Select item 890503	NM_000304.4(PMP22):c.*890C>T	PMP22	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease, type I +1 more	GBenign
Select item 889626	NM_000304.4(PMP22):c.74T>G (p.Val25Gly)	PMP22 (V25G)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease, type I +2 more	GUncertain significance
Select item 888946	NM_000304.4(PMP22):c.266C>A (p.Thr89Asn)	PMP22 (T89N)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease, type I +1 more	GUncertain significance
Select item 888945	NM_000304.4(PMP22):c.344C>T (p.Ala115Val)	PMP22 (A115V)	Single nucleotide variant (missense variant +1 more)	Hereditary liability to pressure palsies +1 more	GUncertain significance
Select item 888884	NM_000304.4(PMP22):c.*200T>G	PMP22	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease, type I +2 more	GBenign
Select item 888800	NM_000304.4(PMP22):c.*894C>T	PMP22	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease, type I +1 more	GUncertain significance
Select item 888799	NM_000304.4(PMP22):c.*907C>A	PMP22	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease, type I +1 more	GUncertain significance
Select item 888798	NM_000304.4(PMP22):c.*911C>T	PMP22	Single nucleotide variant (3 prime UTR variant +1 more)	Hereditary liability to pressure palsies +1 more	GUncertain significance
Select item 803325	NM_000304.4(PMP22):c.78+3G>T	PMP22	Single nucleotide variant (intron variant)	Hereditary liability to pressure palsies	GLikely pathogenic
Select item 637846	NM_000304.4(PMP22):c.289del (p.Tyr97fs)	PMP22 (Y97fs)	Deletion (frameshift variant +1 more)	Charcot-Marie-Tooth disease	GUncertain significance
Select item 637842	NM_000304.4(PMP22):c.418T>A (p.Trp140Arg)	PMP22 (W140R)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease, type I +1 more	GLikely pathogenic
Select item 637713	NM_000304.4(PMP22):c.372G>A (p.Trp124Ter)	PMP22 (W124*)	Single nucleotide variant (nonsense +1 more)	Charcot-Marie-Tooth disease, type I	GPathogenic
Select item 637489	NM_000304.4(PMP22):c.371G>A (p.Trp124Ter)	PMP22 (W124*)	Single nucleotide variant (nonsense +1 more)	Hereditary liability to pressure palsies	GUncertain significance
Select item 637424	NM_000304.4(PMP22):c.433dup (p.Leu145fs)	PMP22 (L145fs)	Duplication (frameshift variant +1 more)	Hereditary liability to pressure palsies	GUncertain significance
Select item 637422	NM_000304.4(PMP22):c.-134G>A	PMP22	Single nucleotide variant (5 prime UTR variant +1 more)	Guillain-Barre syndrome, familial +5 more	GUncertain significance
Select item 625729	GRCh37/hg19 17p12(chr17:14110451-15449097)	CDRT15, CDRT4 +6 more	Copy number loss	Hereditary liability to pressure palsies	GPathogenic
Select item 625727	GRCh37/hg19 17p12(chr17:14104012-15551814)	CDRT15, CDRT4 +8 more	Copy number loss	Hereditary liability to pressure palsies	GPathogenic
Select item 625725	GRCh37/hg19 17p12(chr17:14101029-15449627)	CDRT15, CDRT4 +6 more	Copy number loss	Hereditary liability to pressure palsies	GPathogenic
Select item 625678	GRCh37/hg19 17p12(chr17:14128550-15422557)	CDRT15, CDRT4 +5 more	Copy number loss	Hereditary liability to pressure palsies	GPathogenic
Select item 625547	GRCh37/hg19 2q13(chr2:110824957-110983703)	MALL, NPHP1	Copy number loss	Hereditary liability to pressure palsies	GPathogenic
Select item 586345	NM_000304.4(PMP22):c.362A>G (p.His121Arg)	PMP22 (H121R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 531692	NM_000304.4(PMP22):c.255C>G (p.Cys85Trp)	PMP22 (C85W)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +8 more	GUncertain significance
Select item 462781	NM_000304.4(PMP22):c.478G>A (p.Glu160Lys)	PMP22 (E160K)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease, type I +6 more	GUncertain significance
Select item 416789	NM_000304.4(PMP22):c.178+7C>A	PMP22	Single nucleotide variant (intron variant)	not provided +5 more	GBenign/Likely benign
Select item 382636	NM_000304.4(PMP22):c.403G>A (p.Ala135Thr)	PMP22 (A135T)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease, type I +3 more	GBenign/Likely benign
Select item 378379	NM_000304.4(PMP22):c.396C>T (p.Tyr132=)	PMP22	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +9 more	GBenign/Likely benign
Select item 321866	NM_000304.3(PMP22):c.-223C>T	PMP22	Single nucleotide variant	Charcot-Marie-Tooth disease, type I +1 more	GUncertain significance
Select item 321865	NM_000304.4(PMP22):c.-141C>G	PMP22	Single nucleotide variant (5 prime UTR variant +1 more)	Charcot-Marie-Tooth disease, type I +1 more	GLikely benign
Select item 321864	NM_000304.4(PMP22):c.-74A>G	PMP22	Single nucleotide variant (5 prime UTR variant +1 more)	Charcot-Marie-Tooth disease, type I +1 more	GBenign
Select item 321863	NM_000304.4(PMP22):c.-34-5C>T	PMP22	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 321862	NM_000304.4(PMP22):c.79-6C>T	PMP22	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease +9 more	GBenign/Likely benign
Select item 321861	NM_000304.4(PMP22):c.*3C>T	PMP22	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease, type I +1 more	GUncertain significance
Select item 321860	NM_000304.4(PMP22):c.*26T>C	PMP22	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease, type I +2 more	GBenign/Likely benign
Select item 321859	NM_000304.4(PMP22):c.*59A>C	PMP22	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease, type I +3 more	GBenign
Select item 321858	NM_000304.4(PMP22):c.*105CAAAC[2]	PMP22	Microsatellite (3 prime UTR variant +1 more)	Hereditary liability to pressure palsies +2 more	GBenign/Likely benign
Select item 321857	NM_000304.4(PMP22):c.*173C>T	PMP22	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease, type I +2 more	GBenign/Likely benign
Select item 321856	NM_000304.4(PMP22):c.*205C>A	PMP22	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease, type I +2 more	GConflicting classifications of pathogenicity
Select item 321855	NM_000304.4(PMP22):c.*228G>A	PMP22	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease, type I +2 more	GBenign/Likely benign
Select item 321854	NM_000304.4(PMP22):c.*243C>T	PMP22	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease, type I +1 more	GUncertain significance
Select item 321853	NM_000304.4(PMP22):c.*525CT[1]	PMP22	Microsatellite (3 prime UTR variant +1 more)	Hereditary liability to pressure palsies +1 more	GLikely benign
Select item 321852	NM_000304.4(PMP22):c.*542C>T	PMP22	Single nucleotide variant (3 prime UTR variant +1 more)	Hereditary liability to pressure palsies +1 more	GUncertain significance
Select item 321851	NM_000304.4(PMP22):c.*577T>C	PMP22	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease, type I +1 more	GLikely benign
Select item 321850	NM_000304.4(PMP22):c.*828G>A	PMP22	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease, type I +1 more	GLikely benign
Select item 321849	NM_000304.4(PMP22):c.*912G>A	PMP22	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease, type I +1 more	GBenign
Select item 321848	NM_000304.4(PMP22):c.*985C>T	PMP22	Single nucleotide variant (3 prime UTR variant +1 more)	Hereditary liability to pressure palsies +1 more	GUncertain significance
Select item 321847	NM_000304.4(PMP22):c.*1049C>G	PMP22	Single nucleotide variant (3 prime UTR variant +1 more)	Hereditary liability to pressure palsies +1 more	GUncertain significance
Select item 321846	NM_000304.4(PMP22):c.*1111G>T	PMP22	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease, type I +1 more	GLikely benign
Select item 321845	NM_000304.4(PMP22):c.*1120T>C	PMP22	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease, type I +1 more	GLikely benign
Select item 254793	NM_000069.3(CACNA1S):c.1452C>T (p.Tyr484=)	CACNA1S	Single nucleotide variant (synonymous variant)	Malignant hyperthermia, susceptibility to, 5 +5 more	GBenign/Likely benign
Select item 188195	NM_000304.4(PMP22):c.185T>G (p.Leu62Arg)	PMP22 (L62R)	Single nucleotide variant (missense variant +1 more)	Roussy-Lévy syndrome +8 more	GUncertain significance
Select item 66844	NM_170707.4(LMNA):c.1535T>C (p.Leu512Pro)	LMNA (L512P +2 more)	Single nucleotide variant (missense variant)	Hereditary liability to pressure palsies	GUncertain significance
Select item 8446	NR_039884.1(MIR4731):n.(?_-9031)_(1_70)del	MIR4731, PMP22	Deletion	Autosomal recessive Dejerine-Sottas syndrome +1 more	GPathogenic
Select item 8445	NM_000304.4(PMP22):c.65C>T (p.Ser22Phe)	PMP22 (S22F)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease, type IA +1 more	GPathogenic
Select item 8444	NM_000304.4(PMP22):c.469C>T (p.Arg157Trp)	PMP22 (R157W)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease +3 more	GConflicting classifications of pathogenicity
Select item 8443	NM_000304.4(PMP22):c.199G>A (p.Ala67Thr)	PMP22 (A67T)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease +2 more	GConflicting classifications of pathogenicity
Select item 8437	NM_000304.4(PMP22):c.281dup (p.Arg95fs)	PMP22 (R95fs)	Duplication (frameshift variant +1 more)	Charcot-Marie-Tooth disease +2 more	GPathogenic/Likely pathogenic
Select item 8435	NM_000304.4(PMP22):c.19_20del (p.Ser7fs)	PMP22 (S7fs)	Deletion (frameshift variant)	Charcot-Marie-Tooth disease +1 more	GConflicting classifications of pathogenicity
Select item 8431	NM_000304.4(PMP22):c.353C>T (p.Thr118Met)	PMP22 (T118M)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease +5 more	GConflicting classifications of pathogenicity
Select item 8430	NC_000017.11:g.(14170534_14194724)_(15567585_15591587)del	CDRT15, CDRT3 +25 more	Deletion	Hereditary liability to pressure palsies +2 more	GPathogenic

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Items: 73