ARHGAP6[gene] and "single gene"[properties] - ClinVar

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Items: 65

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2466636	NM_013427.3(ARHGAP6):c.2903C>T (p.Ala968Val)	ARHGAP6 (A765V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2659983	NM_013427.3(ARHGAP6):c.2902G>A (p.Ala968Thr)	ARHGAP6 (A765T +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2598224	NM_013427.3(ARHGAP6):c.2854A>G (p.Arg952Gly)	ARHGAP6 (R749G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3128908	NM_013427.3(ARHGAP6):c.2789A>T (p.Asn930Ile)	ARHGAP6 (N727I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2659984	NM_013427.3(ARHGAP6):c.2784C>T (p.Ser928=)	ARHGAP6	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 712018	NM_013427.3(ARHGAP6):c.2776C>T (p.Leu926=)	ARHGAP6	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2520542	NM_013427.3(ARHGAP6):c.2746G>A (p.Glu916Lys)	ARHGAP6 (E736K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 708157	NM_013427.3(ARHGAP6):c.2719C>G (p.Pro907Ala)	ARHGAP6 (P704A +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 724659	NM_013427.3(ARHGAP6):c.2710G>T (p.Val904Leu)	ARHGAP6 (V904L +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 3128907	NM_013427.3(ARHGAP6):c.2702C>A (p.Pro901Gln)	ARHGAP6 (P721Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3128906	NM_013427.3(ARHGAP6):c.2636G>A (p.Arg879Gln)	ARHGAP6 (R699Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2463209	NM_013427.3(ARHGAP6):c.2635C>T (p.Arg879Trp)	ARHGAP6 (R676W +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2283268	NM_013427.3(ARHGAP6):c.2593C>A (p.Pro865Thr)	ARHGAP6 (P685T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3128905	NM_013427.3(ARHGAP6):c.2588C>G (p.Ala863Gly)	ARHGAP6 (A683G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2294102	NM_013427.3(ARHGAP6):c.2584C>T (p.Arg862Trp)	ARHGAP6 (R682W +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2389876	NM_013427.3(ARHGAP6):c.2572G>A (p.Gly858Arg)	ARHGAP6 (G655R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2518395	NM_013427.3(ARHGAP6):c.2560C>G (p.Leu854Val)	ARHGAP6 (L651V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 725057	NM_013427.3(ARHGAP6):c.2523G>A (p.Leu841=)	ARHGAP6	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 723961	NM_013427.3(ARHGAP6):c.2505C>T (p.Ala835=)	ARHGAP6	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2602065	NM_013427.3(ARHGAP6):c.2494C>T (p.Arg832Trp)	ARHGAP6 (R629W +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2478984	NM_013427.3(ARHGAP6):c.2434C>T (p.His812Tyr)	ARHGAP6 (H812Y +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2343487	NM_013427.3(ARHGAP6):c.2381C>T (p.Thr794Met)	ARHGAP6 (T614M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 726164	NM_013427.3(ARHGAP6):c.2244C>T (p.Asp748=)	ARHGAP6	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 713570	NM_013427.3(ARHGAP6):c.2191C>A (p.Pro731Thr)	ARHGAP6 (P551T +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GLikely benign
Select item 2659985	NM_013427.3(ARHGAP6):c.2176+95G>A	ARHGAP6	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2214459	NM_013427.3(ARHGAP6):c.2132C>T (p.Ser711Leu)	ARHGAP6 (S508L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 731160	NM_013427.3(ARHGAP6):c.2082G>A (p.Glu694=)	ARHGAP6	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 725186	NM_013427.3(ARHGAP6):c.2079G>A (p.Ser693=)	ARHGAP6	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3128903	NM_013427.3(ARHGAP6):c.2051T>C (p.Met684Thr)	ARHGAP6 (M504T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 749370	NM_013427.3(ARHGAP6):c.1908-5G>T	ARHGAP6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 982928	NM_013427.3(ARHGAP6):c.1765G>A (p.Ala589Thr)	ARHGAP6 (A386T +2 more)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental disorder	GLikely benign
Select item 1206100	NM_013427.3(ARHGAP6):c.1739G>A (p.Arg580Gln)	ARHGAP6 (R377Q +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 100858	NM_013427.3(ARHGAP6):c.1675G>T (p.Gly559Ter)	ARHGAP6 (G559* +2 more)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 709683	NM_013427.3(ARHGAP6):c.1599C>T (p.Ala533=)	ARHGAP6	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 785693	NM_013427.3(ARHGAP6):c.1578C>A (p.Leu526=)	ARHGAP6	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3128900	NM_013427.3(ARHGAP6):c.1561C>T (p.Arg521Cys)	ARHGAP6 (R341C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2555561	NM_013427.3(ARHGAP6):c.1336G>A (p.Glu446Lys)	ARHGAP6 (E243K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2339623	NM_013427.3(ARHGAP6):c.1325G>A (p.Arg442Lys)	ARHGAP6 (R262K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3128899	NM_013427.3(ARHGAP6):c.1255C>A (p.Gln419Lys)	ARHGAP6 (Q216K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 720969	NM_013427.3(ARHGAP6):c.1239G>A (p.Leu413=)	ARHGAP6	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2254811	NM_013427.3(ARHGAP6):c.1196A>G (p.Lys399Arg)	ARHGAP6 (K196R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2216921	NM_013427.3(ARHGAP6):c.1179G>C (p.Lys393Asn)	ARHGAP6 (K190N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2279584	NM_013427.3(ARHGAP6):c.907G>C (p.Asp303His)	ARHGAP6 (D100H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3128912	NM_013427.3(ARHGAP6):c.827T>G (p.Ile276Ser)	ARHGAP6 (I276S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2527333	NM_013427.3(ARHGAP6):c.769T>C (p.Ser257Pro)	ARHGAP6 (S77P +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2659986	NM_013427.3(ARHGAP6):c.634A>C (p.Arg212=)	ARHGAP6	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 791668	NM_013427.3(ARHGAP6):c.589-9G>T	ARHGAP6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 402392	NM_013427.3(ARHGAP6):c.589-12_589-10del	ARHGAP6	Deletion (intron variant)	not specified	GBenign
Select item 2659987	NM_013427.3(ARHGAP6):c.589-11184C>T	ARHGAP6	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2537907	NM_013427.3(ARHGAP6):c.574G>T (p.Val192Leu)	ARHGAP6 (V192L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 711096	NM_013427.3(ARHGAP6):c.570C>T (p.Tyr190=)	ARHGAP6	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2529725	NM_013427.3(ARHGAP6):c.544C>G (p.Pro182Ala)	ARHGAP6 (P182A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2598430	NM_013427.3(ARHGAP6):c.491A>G (p.Asn164Ser)	ARHGAP6 (N164S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 731911	NM_013427.3(ARHGAP6):c.479G>T (p.Gly160Val)	ARHGAP6 (G160V)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 3128911	NM_013427.3(ARHGAP6):c.416T>C (p.Leu139Pro)	ARHGAP6 (L139P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2659990	NM_013427.3(ARHGAP6):c.384C>A (p.Arg128=)	ARHGAP6	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2492026	NM_013427.3(ARHGAP6):c.347G>A (p.Gly116Asp)	ARHGAP6 (G116D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3128910	NM_013427.3(ARHGAP6):c.344C>A (p.Ser115Tyr)	ARHGAP6 (S115Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3128909	NM_013427.3(ARHGAP6):c.337T>G (p.Ser113Ala)	ARHGAP6 (S113A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 737884	NM_013427.3(ARHGAP6):c.331_333del (p.Glu111del)	ARHGAP6 (E111del)	Deletion (inframe_deletion +1 more)	not provided	GLikely benign
Select item 762541	NM_013427.3(ARHGAP6):c.295C>T (p.Leu99Phe)	ARHGAP6 (L99F)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 3128902	NM_013427.3(ARHGAP6):c.191G>C (p.Arg64Pro)	ARHGAP6 (R64P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3128901	NM_013427.3(ARHGAP6):c.181A>C (p.Thr61Pro)	ARHGAP6 (T61P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2223759	NM_013427.3(ARHGAP6):c.176G>A (p.Gly59Glu)	ARHGAP6 (G59E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 746002	NM_013427.3(ARHGAP6):c.171G>A (p.Ala57=)	ARHGAP6	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign

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Items: 65