ClinVar for MedGen (Select 75727) - ClinVar

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Items: 38

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3255566	NM_000304.4(PMP22):c.314T>C (p.Leu105Pro)	PMP22 (L105P)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease, type IA	GUncertain significance
Select item 2500820	NC_000017.10:g.(?_15133094)_(15164078_?)dup	PMP22	Duplication	Charcot-Marie-Tooth disease, type IA	GPathogenic
Select item 2444073	NM_000304.4(PMP22):c.124T>C (p.Cys42Arg)	PMP22 (C42R)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease, type I +1 more	GUncertain significance
Select item 2082318	NM_000304.4(PMP22):c.68C>T (p.Thr23Met)	PMP22 (T23M)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease, type I +1 more	GUncertain significance
Select item 1339254	NM_000304.4(PMP22):c.102C>A (p.His34Gln)	PMP22 (H34Q)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease, type IA	GUncertain significance
Select item 1330204	GRCh37/hg19 17p12(chr17:14096089-15492591)x3	CDRT15, CDRT4 +7 more	Copy number gain	Charcot-Marie-Tooth disease, type IA	GPathogenic
Select item 1184514	NM_000304.4(PMP22):c.341C>T (p.Ala114Val)	PMP22 (A114V)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease, type IA	GUncertain significance
Select item 1177482	GRCh37/hg19 17p12(chr17:15229779-15265326)x3	TEKT3	Copy number gain	Charcot-Marie-Tooth disease, type IA	Gnot provided
Select item 977285	NC_000017.11:g.15133096_15164093dup	PMP22	Duplication	Charcot-Marie-Tooth disease, type IA	GPathogenic
Select item 872649	NM_000304.4(PMP22):c.260T>C (p.Leu87Pro)	PMP22 (L87P)	Single nucleotide variant (missense variant +1 more)	not provided +6 more	GUncertain significance
Select item 835185	NM_000304.4(PMP22):c.35A>G (p.His12Arg)	PMP22 (H12R)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease, type I	GLikely pathogenic
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 637835	NM_000304.4(PMP22):c.392C>G (p.Ser131Cys)	PMP22 (S131C)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease, type IA +2 more	GConflicting classifications of pathogenicity
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 625728	GRCh37/hg19 17p12(chr17:14105874-15611546)	CDRT15, CDRT4 +9 more	Copy number gain	Charcot-Marie-Tooth disease, type IA	GPathogenic
Select item 625726	GRCh37/hg19 17p12(chr17:14104012-15422557)	CDRT15, CDRT4 +6 more	Copy number gain	Charcot-Marie-Tooth disease, type IA	GPathogenic
Select item 625724	GRCh37/hg19 17p12(chr17:14063251-15449627)	CDRT15, CDRT4 +6 more	Copy number gain	Charcot-Marie-Tooth disease, type IA	GPathogenic
Select item 598751	Single allele	CDRT15, CDRT4 +7 more	Duplication	Charcot-Marie-Tooth disease, type IA	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)	not provided +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)	Inborn genetic diseases +7 more	GUncertain significance
Select item 378379	NM_000304.4(PMP22):c.396C>T (p.Tyr132=)	PMP22	Single nucleotide variant (synonymous variant +1 more)	not provided +9 more	GBenign/Likely benign
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 217238	NM_000304.4(PMP22):c.434del (p.Leu145fs)	PMP22 (L145fs)	Deletion (frameshift variant +1 more)	Inborn genetic diseases +4 more	GPathogenic/Likely pathogenic
Select item 217236	NM_000304.4(PMP22):c.235T>A (p.Ser79Thr)	PMP22 (S79T)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease, type IA +1 more	GLikely pathogenic
Select item 188195	NM_000304.4(PMP22):c.185T>G (p.Leu62Arg)	PMP22 (L62R)	Single nucleotide variant (missense variant +1 more)	Hereditary liability to pressure palsies +8 more	GUncertain significance
Select item 127097	GRCh38/hg20 17p12(chr17:14170534-15591587)x4	PMP22	Copy number gain	Charcot-Marie-Tooth disease, type IA	GPathogenic
Select item 30158	NM_000304.4(PMP22):c.281del (p.Gly94fs)	PMP22 (G94fs)	Deletion (frameshift variant +1 more)	Charcot-Marie-Tooth disease, type I +1 more	GPathogenic
Select item 9647	NC_012920.1(MT-ATP6):m.9185T>C	MT-ATP6	Single nucleotide variant	Mitochondrial disease	GPathogenic FDA Recognized database
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 8443	NM_000304.4(PMP22):c.199G>A (p.Ala67Thr)	PMP22 (A67T)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease, type IA +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 8433	NM_000304.4(PMP22):c.215C>T (p.Ser72Leu)	PMP22 (S72L)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease, type IA +3 more	GPathogenic
Select item 8432	NM_000304.4(PMP22):c.206T>A (p.Met69Lys)	PMP22 (M69K)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease, type IA +2 more	GPathogenic
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, type IA +6 more	GConflicting classifications of pathogenicity
Select item 8429	NM_000304.4(PMP22):c.236C>G (p.Ser79Cys)	PMP22 (S79C)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease, type I	GPathogenic
Select item 8428	NM_000304.4(PMP22):c.47T>C (p.Leu16Pro)	PMP22 (L16P)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease, type I	GPathogenic
Select item 8427	NC_000017.11:g.(?_14440201)_(15475424_?)dup	PMP22	Duplication	Roussy-Lévy syndrome +1 more	GPathogenic

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Items: 38