C0011195[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[su - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 14191	NM_000530.8(MPZ):c.434A>C (p.Tyr145Ser)	MPZ (Y145S)	Single nucleotide variant (missense variant)	MPZ-related disorder +9 more	GPathogenic
Select item 462797	NM_000530.8(MPZ):c.397C>A (p.Pro133Thr)	MPZ (P133T)	Single nucleotide variant (missense variant)	Roussy-Lévy syndrome +7 more	GPathogenic/Likely pathogenic
Select item 14181	NM_000530.8(MPZ):c.371C>T (p.Thr124Met)	MPZ (T124M)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4E +9 more	GPathogenic
Select item 246524	NM_000530.8(MPZ):c.133C>T (p.Arg45Trp)	MPZ (R45W)	Single nucleotide variant (missense variant)	Dejerine-Sottas disease +10 more	GConflicting classifications of pathogenicity
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 378379	NM_000304.4(PMP22):c.396C>T (p.Tyr132=)	PMP22	Single nucleotide variant (synonymous variant +1 more)	Charcot-Marie-Tooth disease, type I +9 more	GBenign/Likely benign
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 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 321862	NM_000304.4(PMP22):c.79-6C>T	PMP22	Single nucleotide variant (intron variant)	not provided +9 more	GBenign/Likely benign
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 329250	NM_181882.3(PRX):c.4044G>C (p.Gly1348=)	PRX	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases +6 more	GBenign/Likely benign
Select item 245824	NM_181882.3(PRX):c.3769G>A (p.Gly1257Arg)	PRX (G1257R)	Single nucleotide variant (3 prime UTR variant +1 more)	Dejerine-Sottas disease +4 more	GUncertain significance
Select item 329271	NM_181882.3(PRX):c.1964C>T (p.Pro655Leu)	PRX (P655L)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +4 more	GBenign/Likely benign
Select item 329274	NM_181882.3(PRX):c.1625G>A (p.Arg542Gln)	PRX (R542Q)	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 4 +4 more	GBenign/Likely benign
Select item 246316	NM_181882.3(PRX):c.1546C>T (p.Arg516Trp)	PRX (R516W)	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 4F +4 more	GConflicting classifications of pathogenicity
Select item 329277	NM_181882.3(PRX):c.1281C>T (p.Ile427=)	PRX	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +6 more	GBenign/Likely benign