ClinVar (all) for Orgtrack (Select 505217) - ClinVar

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Items: 39

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1525978	NM_000399.5(EGR2):c.1232A>G (p.Asp411Gly)	EGR2 (D361G +1 more)	Single nucleotide variant (missense variant)	Dejerine-Sottas disease	GPathogenic
Select item 1525972	NM_014727.3(KMT2B):c.5073C>T (p.Gly1691=)	KMT2B	Single nucleotide variant (synonymous variant)	Dystonia 28, childhood-onset	GPathogenic
Select item 155755	NM_001365951.3(KIF1B):c.2115+6213G>T	KIF1B (E758D)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 155754	NM_001005373.4(LRSAM1):c.1046A>G (p.Gln349Arg)	LRSAM1 (Q349R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 155753	NM_021625.5(TRPV4):c.549G>C (p.Glu183Asp)	TRPV4 (E183D +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2C	GBenign
Select item 155752	NM_018972.4(GDAP1):c.248G>C (p.Gly83Ala)	GDAP1 (G83A +1 more)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease type 4A +2 more	GUncertain significance
Select item 155751	NM_001003800.2(BICD2):c.2296C>T (p.Arg766Trp)	BICD2 (R766W)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 155750	NM_001365951.3(KIF1B):c.4211T>C (p.Val1404Ala)	KIF1B (V1358A +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease +4 more	GConflicting classifications of pathogenicity
Select item 155749	NM_001365951.3(KIF1B):c.3407T>C (p.Ile1136Thr)	KIF1B (I1090T +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2A1 +3 more	GConflicting classifications of pathogenicity
Select item 155748	NM_015046.7(SETX):c.7640T>C (p.Ile2547Thr)	SETX (I2547T +1 more)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis +5 more	GConflicting classifications of pathogenicity
Select item 155747	NM_015046.7(SETX):c.7432A>C (p.Thr2478Pro)	SETX (T2478P +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 155746	NM_015046.7(SETX):c.4273A>G (p.Lys1425Glu)	SETX (K1425E)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 155745	NM_015046.7(SETX):c.4225A>T (p.Asn1409Tyr)	SETX (N1409Y)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 +5 more	GConflicting classifications of pathogenicity
Select item 155744	NM_015046.7(SETX):c.3968G>A (p.Arg1323Gln)	SETX (R1323Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +5 more	GUncertain significance
Select item 155743	NM_015046.7(SETX):c.1869A>C (p.Glu623Asp)	SETX (E623D)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 155742	NM_015046.7(SETX):c.1504C>T (p.Arg502Trp)	SETX (R502W)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 4 +2 more	GConflicting classifications of pathogenicity
Select item 155741	NM_006158.5(NEFL):c.803T>G (p.Leu268Arg)	NEFL (L268R)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 155740	NM_006158.5(NEFL):c.794A>G (p.Tyr265Cys)	NEFL (Y265C)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 155739	NM_006158.5(NEFL):c.289C>T (p.Leu97Phe)	NEFL (L97F)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2E	GUncertain significance
Select item 155738	NM_006158.5(NEFL):c.1319C>T (p.Pro440Leu)	NEFL (P440L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 155737	NM_006158.5(NEFL):c.1007T>C (p.Leu336Pro)	NEFL (L336P)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease	GUncertain significance
Select item 155736	NM_003680.4(YARS1):c.241G>C (p.Asp81His)	YARS1 (D81H)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate C	GUncertain significance
Select item 155735	NM_001605.3(AARS1):c.2791G>A (p.Gly931Ser)	AARS1 (G931S)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2N +2 more	GBenign/Likely benign
Select item 155734	NM_001605.3(AARS1):c.2185C>T (p.Arg729Trp)	AARS1 (R729W)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 155733	NM_001605.3(AARS1):c.1685C>T (p.Thr562Ile)	AARS1 (T562I)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +3 more	GBenign/Likely benign
Select item 155732	NM_021625.5(TRPV4):c.1570T>G (p.Phe524Val)	TRPV4 (F490V +4 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 155731	NM_001122955.4(BSCL2):c.1167C>T (p.Ser389=)	BSCL2, HNRNPUL2-BSCL2 (P278L)	Single nucleotide variant (missense variant +2 more)	Charcot-Marie-Tooth disease type 2 +2 more	GLikely benign
Select item 155730	NM_014874.4(MFN2):c.775C>T (p.Arg259Cys)	MFN2 (R259C)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 155729	NM_001003800.2(BICD2):c.1993G>T (p.Val665Leu)	BICD2 (V665L)	Single nucleotide variant (missense variant)	Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures +1 more	GConflicting classifications of pathogenicity
Select item 155728	NM_001003800.2(BICD2):c.1079C>T (p.Ala360Val)	BICD2 (A360V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GBenign/Likely benign
Select item 155727	NM_000166.6(GJB1):c.790C>T (p.Arg264Cys)	GJB1 (R264C)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease +3 more	GConflicting classifications of pathogenicity
Select item 155726	NM_000166.6(GJB1):c.77C>T (p.Ser26Leu)	GJB1 (S26L)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth Neuropathy X +2 more	GPathogenic
Select item 155725	NM_000166.6(GJB1):c.580A>G (p.Met194Val)	GJB1 (M194V)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth Neuropathy X	GPathogenic
Select item 155724	NM_000166.6(GJB1):c.259C>G (p.Pro87Ala)	GJB1 (P87A)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth Neuropathy X	GPathogenic
Select item 8402	NM_004082.5(DCTN1):c.3746C>T (p.Thr1249Ile)	DCTN1 (T1249I +7 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +4 more	GBenign/Likely benign
Select item 4543	NM_001122955.4(BSCL2):c.455A>G (p.Asn152Ser)	BSCL2, HNRNPUL2-BSCL2 (N88S +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Peripheral neuropathy +8 more	GPathogenic
Select item 2290	NM_015046.7(SETX):c.8C>T (p.Thr3Ile)	SETX (T3I)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2278	NM_014874.4(MFN2):c.1090C>T (p.Arg364Trp)	MFN2 (R364W)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +3 more	GPathogenic
Select item 1721	NM_014845.6(FIG4):c.122T>C (p.Ile41Thr)	FIG4 (I41T)	Single nucleotide variant (missense variant)	Yunis-Varon syndrome +8 more	GPathogenic/Likely pathogenic

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Items: 39