Related gene-specific medical variations for Gene (Select 9639) - ClinVar

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Items: 36

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3257074	NM_014629.4(ARHGEF10):c.2150T>A (p.Val717Asp)	ARHGEF10, LOC126860281 (V679D +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3245583	NC_000008.10:g.(?_1857441)_(1905429_?)dup	ARHGEF10	Duplication	not provided	GUncertain significance
Select item 3129013	NM_014629.4(ARHGEF10):c.2190C>G (p.Asn730Lys)	ARHGEF10, LOC126860281 (N692K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3058349	NM_014629.4(ARHGEF10):c.37+5C>T	ARHGEF10, LOC126860279	Single nucleotide variant (intron variant)	ARHGEF10-related disorder	GLikely benign
Select item 2987995	NM_014629.4(ARHGEF10):c.2240A>G (p.Asn747Ser)	ARHGEF10, LOC126860281 (N709S +2 more)	Single nucleotide variant (missense variant)	not provided	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 2305783	NM_014629.4(ARHGEF10):c.2207A>G (p.Asn736Ser)	ARHGEF10, LOC126860281 (N760S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2176524	NM_014629.4(ARHGEF10):c.25C>A (p.Pro9Thr)	ARHGEF10, LOC126860279 (P33T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1987628	NM_014629.4(ARHGEF10):c.2259+16A>G	ARHGEF10, LOC126860281	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1936641	NM_014629.4(ARHGEF10):c.2196G>T (p.Leu732Phe)	ARHGEF10, LOC126860281 (L732F +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1933007	NM_014629.4(ARHGEF10):c.2259+15A>G	ARHGEF10, LOC126860281	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1674203	NM_014629.4(ARHGEF10):c.2144-19del	ARHGEF10, LOC126860281	Deletion (intron variant)	not provided	GLikely benign
Select item 1525873	NM_014629.4(ARHGEF10):c.2259+9T>C	ARHGEF10, LOC126860281	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1482585	NM_014629.4(ARHGEF10):c.2230C>G (p.Leu744Val)	ARHGEF10, LOC126860281 (L768V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1374868	NM_014629.4(ARHGEF10):c.2241C>G (p.Asn747Lys)	ARHGEF10, LOC126860281 (N709K +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1319781	NM_014629.4(ARHGEF10):c.685A>G (p.Met229Val)	ARHGEF10 (M229V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1293260	NM_014629.4(ARHGEF10):c.2144-16T>G	ARHGEF10, LOC126860281	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1292938	NM_014629.4(ARHGEF10):c.37+36T>G	ARHGEF10, LOC126860279	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1288449	NM_014629.4(ARHGEF10):c.37+60C>T	ARHGEF10, LOC126860279	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1279597	NM_014629.4(ARHGEF10):c.37+70C>T	ARHGEF10, LOC126860279	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1270288	NM_014629.4(ARHGEF10):c.37+61G>A	ARHGEF10, LOC126860279	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1244753	NM_014629.4(ARHGEF10):c.-47-86C>T	ARHGEF10, LOC126860279	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1234308	NM_014629.4(ARHGEF10):c.2144-174G>A	ARHGEF10, LOC126860281	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1230404	NM_014629.4(ARHGEF10):c.2144-138T>C	ARHGEF10, LOC126860281	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1226697	NM_014629.4(ARHGEF10):c.37+83A>G	ARHGEF10, LOC126860279	Single nucleotide variant (intron variant)	not provided	GBenign
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 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 810244	NM_014629.4(ARHGEF10):c.2583G>C (p.Val861=)	ARHGEF10	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 685567	GRCh37/hg19 8p23.3(chr8:1734758-1886029)x3	ARHGEF10	Copy number gain	not provided	GUncertain significance
Select item 618535	NM_014629.4(ARHGEF10):c.1911A>G (p.Lys637=)	ARHGEF10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 374628	NM_014629.4(ARHGEF10):c.2658C>A (p.Ser886Arg)	ARHGEF10 (S886R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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

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Items: 36