ClinVar for MedGen (Select 330829) - ClinVar

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Items: 41

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3242107	NM_014629.4(ARHGEF10):c.2711C>G (p.Thr904Ser)	ARHGEF10 (T866S +2 more)	Single nucleotide variant (missense variant)	Autosomal dominant slowed nerve conduction velocity	GUncertain significance
Select item 3068583	NM_014629.4(ARHGEF10):c.843+47C>G	ARHGEF10	Single nucleotide variant (intron variant)	Autosomal dominant slowed nerve conduction velocity	GLikely benign
Select item 3067915	NM_014629.4(ARHGEF10):c.1936G>A (p.Asp646Asn)	ARHGEF10 (D608N +2 more)	Single nucleotide variant (missense variant)	Autosomal dominant slowed nerve conduction velocity	GUncertain significance
Select item 2439157	NM_014629.4(ARHGEF10):c.1030A>G (p.Lys344Glu)	ARHGEF10 (K306E +2 more)	Single nucleotide variant (missense variant)	Autosomal dominant slowed nerve conduction velocity	GUncertain significance
Select item 2439156	NM_014629.4(ARHGEF10):c.679+2T>A	ARHGEF10	Single nucleotide variant (splice donor variant)	Autosomal dominant slowed nerve conduction velocity	GUncertain significance
Select item 2205841	NM_014629.4(ARHGEF10):c.2005T>G (p.Tyr669Asp)	ARHGEF10 (Y631D +2 more)	Single nucleotide variant (missense variant)	Autosomal dominant slowed nerve conduction velocity +1 more	GUncertain significance
Select item 1709868	NM_014629.4(ARHGEF10):c.1606del (p.Met535_Met536insTer)	ARHGEF10	Deletion (nonsense)	Autosomal dominant slowed nerve conduction velocity	GUncertain significance
Select item 1709815	NM_014629.4(ARHGEF10):c.1076-3_1076-2delinsTG	ARHGEF10	Indel (splice acceptor variant)	Autosomal dominant slowed nerve conduction velocity	GUncertain significance
Select item 1678610	NM_014629.4(ARHGEF10):c.990C>A (p.Asp330Glu)	ARHGEF10 (D292E +2 more)	Single nucleotide variant (missense variant)	Autosomal dominant slowed nerve conduction velocity	GUncertain significance
Select item 1031837	NM_014629.4(ARHGEF10):c.121G>T (p.Glu41Ter)	ARHGEF10 (E65* +1 more)	Single nucleotide variant (nonsense)	Autosomal dominant slowed nerve conduction velocity	GUncertain significance
Select item 1029283	NM_014629.4(ARHGEF10):c.1343A>G (p.Glu448Gly)	ARHGEF10 (E410G +2 more)	Single nucleotide variant (missense variant)	Autosomal dominant slowed nerve conduction velocity	GUncertain significance
Select item 993850	NM_014629.4(ARHGEF10):c.3869C>T (p.Ser1290Leu)	ARHGEF10 (S1252L +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 930476	NM_014629.4(ARHGEF10):c.2460C>G (p.Asn820Lys)	ARHGEF10 (N844K +2 more)	Single nucleotide variant (missense variant)	Autosomal dominant slowed nerve conduction velocity +2 more	GUncertain significance
Select item 930456	NM_014629.4(ARHGEF10):c.541A>G (p.Thr181Ala)	ARHGEF10 (T182A +2 more)	Single nucleotide variant (missense variant)	Autosomal dominant slowed nerve conduction velocity	GUncertain significance
Select item 816533	NM_014629.4(ARHGEF10):c.343G>T (p.Glu115Ter)	ARHGEF10 (E115* +1 more)	Single nucleotide variant (nonsense)	Autosomal dominant slowed nerve conduction velocity	GUncertain significance
Select item 812165	NM_014629.4(ARHGEF10):c.1812C>A (p.Tyr604Ter)	ARHGEF10 (Y628* +2 more)	Single nucleotide variant (nonsense)	Autosomal dominant slowed nerve conduction velocity	GUncertain significance
Select item 810896	NM_014629.4(ARHGEF10):c.401C>T (p.Ala134Val)	ARHGEF10 (A134V +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant slowed nerve conduction velocity +1 more	GConflicting classifications of pathogenicity
Select item 810874	NM_014629.4(ARHGEF10):c.2909C>T (p.Thr970Met)	ARHGEF10 (T932M +2 more)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 792097	NM_014629.4(ARHGEF10):c.1991T>C (p.Met664Thr)	ARHGEF10 (M664T +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 792096	NM_014629.4(ARHGEF10):c.1260+4C>T	ARHGEF10	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 726311	NM_014629.4(ARHGEF10):c.474C>T (p.Asp158=)	ARHGEF10	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 634605	NM_014629.4(ARHGEF10):c.3964_3965dup (p.Arg1323fs)	ARHGEF10 (R1285fs +2 more)	Duplication (frameshift variant)	Autosomal dominant slowed nerve conduction velocity	GUncertain significance
Select item 618537	NM_014629.4(ARHGEF10):c.1113C>T (p.Phe371=)	ARHGEF10	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 618536	NM_014629.4(ARHGEF10):c.1110G>C (p.Leu370Phe)	ARHGEF10 (L370F +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 590923	NM_014629.4(ARHGEF10):c.1720G>A (p.Glu574Lys)	ARHGEF10 (E574K +2 more)	Single nucleotide variant (missense variant)	Autosomal dominant slowed nerve conduction velocity	GUncertain significance
Select item 522268	NM_014629.4(ARHGEF10):c.2812G>A (p.Val938Ile)	ARHGEF10 (V938I +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 522267	NM_014629.4(ARHGEF10):c.2259+8T>C	LOC126860281, ARHGEF10	Single nucleotide variant (intron variant)	Autosomal dominant slowed nerve conduction velocity	GLikely benign
Select item 522266	NM_014629.4(ARHGEF10):c.141A>C (p.Pro47=)	ARHGEF10	Single nucleotide variant (synonymous variant)	Autosomal dominant slowed nerve conduction velocity +1 more	GBenign
Select item 518392	NM_014629.4(ARHGEF10):c.3398-16A>G	ARHGEF10	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 518391	NM_014629.4(ARHGEF10):c.2143+13T>G	ARHGEF10	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 518390	NM_014629.4(ARHGEF10):c.1075+13A>G	ARHGEF10	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 518389	NM_014629.4(ARHGEF10):c.630G>A (p.Glu210=)	ARHGEF10	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 518388	NM_014629.4(ARHGEF10):c.387A>G (p.Val129=)	ARHGEF10	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 453261	NM_014629.4(ARHGEF10):c.133C>T (p.Gln45Ter)	ARHGEF10 (Q45* +1 more)	Single nucleotide variant (nonsense)	Autosomal dominant slowed nerve conduction velocity	GUncertain significance
Select item 439416	NM_014629.4(ARHGEF10):c.38-10T>C	ARHGEF10	Single nucleotide variant (intron variant)	Autosomal dominant slowed nerve conduction velocity +1 more	GBenign/Likely benign
Select item 439414	NM_014629.4(ARHGEF10):c.2098G>A (p.Val700Ile)	ARHGEF10 (V700I +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 388721	NM_014629.4(ARHGEF10):c.2134G>T (p.Ala712Ser)	ARHGEF10 (A712S +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 374306	NM_014629.4(ARHGEF10):c.2063G>A (p.Ser688Asn)	ARHGEF10 (S688N +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 157538	NM_014629.4(ARHGEF10):c.2197C>T (p.His733Tyr)	ARHGEF10, LOC126860281 (H733Y +2 more)	Single nucleotide variant (missense variant)	Autosomal dominant slowed nerve conduction velocity +1 more	GConflicting classifications of pathogenicity
Select item 156013	NM_014629.4(ARHGEF10):c.1013G>C (p.Arg338Thr)	ARHGEF10 (R338T +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2526	NM_014629.4(ARHGEF10):c.995C>T (p.Thr332Ile)	ARHGEF10 (T332I +2 more)	Single nucleotide variant (missense variant)	Autosomal dominant slowed nerve conduction velocity	Gno classifications from unflagged records

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Items: 41