C0031117[trait identifier] AND "Institute of Human Genetics, Universit - ClinVar

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Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1050168	NM_198681.4(PLEKHG5):c.-120C>T	PLEKHG5	Single nucleotide variant (5 prime UTR variant)	not provided	GConflicting classifications of pathogenicity
Select item 1711847	NM_014874.4(MFN2):c.1327G>C (p.Val443Leu)	MFN2 (V443L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1341583	NM_014874.4(MFN2):c.1717-5C>T	MFN2	Single nucleotide variant (intron variant)	Peripheral neuropathy	GUncertain significance
Select item 1183966	NM_000530.8(MPZ):c.646-2A>C	MPZ	Single nucleotide variant (splice acceptor variant)	Peripheral neuropathy	GLikely pathogenic
Select item 2135981	NM_000530.8(MPZ):c.178G>A (p.Asp60Asn)	MPZ (D60N)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease, type I	GUncertain significance
Select item 1703705	NM_004082.5(DCTN1):c.3711G>A (p.Glu1237=)	DCTN1	Single nucleotide variant (synonymous variant +1 more)	Amyotrophic lateral sclerosis type 1 +2 more	GBenign
Select item 1183970	NM_007289.4(MME):c.1189-4G>A	MME	Single nucleotide variant (intron variant)	not provided	GConflicting classifications of pathogenicity
Select item 1696833	NM_006158.5(NEFL):c.1459G>A (p.Glu487Lys)	NEFL (E487K)	Single nucleotide variant (missense variant)	Peripheral neuropathy	GUncertain significance
Select item 1895446	NM_006158.5(NEFL):c.786C>T (p.Arg262=)	NEFL	Single nucleotide variant (synonymous variant)	Peripheral neuropathy	GUncertain significance
Select item 1703707	NM_018706.7(DHTKD1):c.1615G>A (p.Val539Ile)	DHTKD1 (V539I)	Single nucleotide variant (missense variant)	Peripheral neuropathy	GUncertain significance
Select item 1984126	NM_014365.3(HSPB8):c.439G>A (p.Ala147Thr)	HSPB8 (A147T)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2L	GUncertain significance
Select item 560368	NM_004373.4(COX6A1):c.103+1G>C	COX6A1	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 1810341	NM_007347.5(AP4E1):c.3249T>G (p.Ile1083Met)	AP4E1 (I1008M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1183969	NM_000304.4(PMP22):c.55dup (p.Leu19fs)	PMP22 (L19fs)	Duplication (frameshift variant)	Peripheral neuropathy	GLikely pathogenic
Select item 1679558	NM_001005361.3(DNM2):c.1336-4C>G	DNM2	Single nucleotide variant (intron variant)	Peripheral neuropathy	GUncertain significance
Select item 1475656	NM_003906.5(MCM3AP):c.2902G>A (p.Gly968Arg)	MCM3AP (G968R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1526398	NM_003906.5(MCM3AP):c.10A>C (p.Thr4Pro)	MCM3AP (T4P)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1636936	NM_021076.4(NEFH):c.1208+8G>A	NEFH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1400458	NM_021076.4(NEFH):c.1684C>G (p.Pro562Ala)	NEFH (P562A)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 1696832	NM_002972.4(SBF1):c.5470C>T (p.Arg1824Cys)	SBF1 (R1799C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1676847	NM_002972.4(SBF1):c.3740C>G (p.Ala1247Gly)	SBF1 (A1247G +1 more)	Single nucleotide variant (missense variant)	Peripheral neuropathy	GUncertain significance
Select item 1004038	NM_000166.6(GJB1):c.218A>G (p.His73Arg)	GJB1 (H73R)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth Neuropathy X	GUncertain significance
Select item 2429345	NM_000166.6(GJB1):c.577T>C (p.Phe193Leu)	GJB1 (F193L)	Single nucleotide variant (missense variant)	Peripheral neuropathy	GLikely pathogenic
Select item 1895447	NM_004208.4(AIFM1):c.511A>C (p.Met171Leu)	RAB33A, AIFM1 (M171L +1 more)	Single nucleotide variant (missense variant +1 more)	Peripheral neuropathy	GUncertain significance

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Items: 24