ClinVar for MedGen (Select 350076) - ClinVar

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Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2582694	NM_032564.5(DGAT2):c.245T>C (p.Val82Ala)	DGAT2 (V82A)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease type 2A1	GUncertain significance
Select item 2505358	NM_001365951.3(KIF1B):c.2137G>A (p.Ala713Thr)	KIF1B (A667T +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2A1 +1 more	GUncertain significance
Select item 2433134	NM_001365951.3(KIF1B):c.2042G>A (p.Arg681Lys)	KIF1B (R635K +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2A1 +1 more	GUncertain significance
Select item 2433133	NM_001365951.3(KIF1B):c.4567C>T (p.Pro1523Ser)	KIF1B (P1477S +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2A1	GUncertain significance
Select item 1780152	NM_001365951.3(KIF1B):c.1927G>A (p.Glu643Lys)	KIF1B (E643K +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1730364	NM_001365951.3(KIF1B):c.3475G>C (p.Gly1159Arg)	KIF1B (G1113R +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 1728713	NM_001365951.3(KIF1B):c.3334A>G (p.Lys1112Glu)	KIF1B (K1066E +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2A1 +2 more	GUncertain significance
Select item 1342175	NM_001365951.3(KIF1B):c.4922C>T (p.Ser1641Phe)	KIF1B (S1595F +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2A1 +1 more	GUncertain significance
Select item 1342025	NM_001365951.3(KIF1B):c.2115+6281A>G	KIF1B (E781G)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease type 2A1	GUncertain significance
Select item 1032652	NM_001365951.3(KIF1B):c.3434G>A (p.Arg1145His)	KIF1B (R1145H +1 more)	Single nucleotide variant (missense variant)	Pheochromocytoma +4 more	GUncertain significance
Select item 1018792	NM_001365951.3(KIF1B):c.3650G>A (p.Arg1217His)	KIF1B (R1171H +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2A1 +2 more	GUncertain significance
Select item 917115	NM_001365951.3(KIF1B):c.4753-20C>A	KIF1B	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2 +4 more	GBenign/Likely benign
Select item 855407	NM_001365951.3(KIF1B):c.5203A>G (p.Ser1735Gly)	KIF1B (S1689G +1 more)	Single nucleotide variant (missense variant)	Pheochromocytoma +3 more	GConflicting classifications of pathogenicity
Select item 806068	NM_014874.4(MFN2):c.1292C>T (p.Ser431Leu)	MFN2 (S431L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 695344	NM_001365951.3(KIF1B):c.5097-9C>T	KIF1B	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2A1 +4 more	GBenign/Likely benign
Select item 543204	NM_001365951.3(KIF1B):c.3824C>G (p.Thr1275Arg)	KIF1B (T1229R +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 476790	NM_001365951.3(KIF1B):c.791G>A (p.Arg264Gln)	KIF1B (R264Q)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +2 more	GUncertain significance
Select item 476778	NM_001365951.3(KIF1B):c.1594C>G (p.Pro532Ala)	KIF1B (P486A +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +4 more	GConflicting classifications of pathogenicity
Select item 408312	NM_001365951.3(KIF1B):c.2159C>T (p.Thr720Ile)	KIF1B (T674I +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease +4 more	GConflicting classifications of pathogenicity
Select item 408309	NM_001365951.3(KIF1B):c.1705A>G (p.Ile569Val)	KIF1B (I523V +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2A1 +4 more	GUncertain significance
Select item 374063	NM_001365951.3(KIF1B):c.4525C>T (p.Arg1509Cys)	KIF1B (R1463C +1 more)	Single nucleotide variant (missense variant)	Vitiligo +6 more	GUncertain significance
Select item 291582	NM_001365951.3(KIF1B):c.4820G>A (p.Cys1607Tyr)	KIF1B (C1561Y +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +4 more	GConflicting classifications of pathogenicity
Select item 291567	NM_001365951.3(KIF1B):c.3398A>G (p.Tyr1133Cys)	KIF1B (Y1087C +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +4 more	GBenign
Select item 291562	NM_001365951.3(KIF1B):c.2830G>A (p.Gly944Ser)	KIF1B, LOC126805614 (G898S +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 260542	NM_001365951.3(KIF1B):c.720+17C>T	KIF1B	Single nucleotide variant (intron variant)	not provided +5 more	GBenign
Select item 177960	NM_001365951.3(KIF1B):c.1777+10C>T	KIF1B	Single nucleotide variant (intron variant)	Neuroblastoma +6 more	GBenign
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 2 +3 more	GConflicting classifications of pathogenicity
Select item 129401	NM_001365951.3(KIF1B):c.5301C>A (p.Thr1767=)	KIF1B	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease +6 more	GBenign
Select item 129399	NM_001365951.3(KIF1B):c.285C>G (p.Ala95=)	KIF1B	Single nucleotide variant (synonymous variant)	not provided +6 more	GBenign
Select item 4658	NM_001365951.3(KIF1B):c.293A>T (p.Gln98Leu)	KIF1B (Q98L)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2A1	GPathogenic

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Items: 30