ClinVar for Gene (Select 395) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3376363	NM_001142.2(AMELX):c.144+1G>A	AMELX, ARHGAP6	Single nucleotide variant (intron variant +1 more)	Amelogenesis imperfecta type 1E	GLikely pathogenic
Select item 3340173	NM_001142.2(AMELX):c.11G>A (p.Trp4Ter)	AMELX, ARHGAP6 (W4*)	Single nucleotide variant (nonsense +1 more)	not provided	GLikely pathogenic
Select item 3312497	NM_013427.3(ARHGAP6):c.1751G>C (p.Ser584Thr)	ARHGAP6 (S381T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3312486	NM_013427.3(ARHGAP6):c.2206G>A (p.Gly736Arg)	ARHGAP6 (G533R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3312475	NM_013427.3(ARHGAP6):c.1830C>G (p.Asn610Lys)	ARHGAP6 (N407K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3312464	NM_013427.3(ARHGAP6):c.257C>T (p.Pro86Leu)	ARHGAP6 (P86L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3312453	NM_013427.3(ARHGAP6):c.2127G>C (p.Leu709Phe)	ARHGAP6 (L506F +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3312442	NM_013427.3(ARHGAP6):c.130G>C (p.Gly44Arg)	ARHGAP6 (G44R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3312441	NM_013427.3(ARHGAP6):c.2234G>A (p.Gly745Glu)	ARHGAP6 (G542E +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3312435	NM_013427.3(ARHGAP6):c.407C>T (p.Ala136Val)	ARHGAP6 (A136V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3312428	NM_013427.3(ARHGAP6):c.2567T>C (p.Val856Ala)	ARHGAP6 (V856A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3256889	NM_001142.2(AMELX):c.167C>T (p.Pro56Leu)	AMELX, ARHGAP6 (P40L +2 more)	Single nucleotide variant (missense variant +1 more)	Amelogenesis imperfecta type 1E	GPathogenic
Select item 3246773	NC_000023.10:g.(?_11308472)_(13765072_?)dup	AMELX, ARHGAP6 +13 more	Duplication	not provided	GUncertain significance
Select item 3242589	GRCh38/hg38 Xp22.33-q28(chrX:2757837-156030895)x2	LOC130068417, LOC130068418 +2599 more	Copy number gain	Klinefelter syndrome	GPathogenic
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 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 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 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 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 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 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 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 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 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 3115060	NM_001142.2(AMELX):c.419T>G (p.Met140Arg)	AMELX, ARHGAP6 (M124R +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3062571	GRCh37/hg19 Xp22.2(chrX:11091133-11291609)	ARHGAP6, HCCS	Copy number gain	not specified	GUncertain significance
Select item 3062511	GRCh37/hg19 Xp22.33-11.1(chrX:168546-58364114)	ACE2, ACOT9 +314 more	Copy number loss	not specified	GPathogenic
Select item 3062471	GRCh37/hg19 Xp22.33-11.21(chrX:168546-55653170)	ACE2, ACOT9 +305 more	Copy number loss	not specified	GPathogenic
Select item 3051823	NM_001142.2(AMELX):c.225G>A (p.Pro75=)	AMELX, ARHGAP6	Single nucleotide variant (synonymous variant +1 more)	AMELX-related disorder	GLikely benign
Select item 3042941	NM_001142.2(AMELX):c.366C>T (p.Pro122=)	AMELX, ARHGAP6	Single nucleotide variant (synonymous variant +1 more)	AMELX-related disorder	GLikely benign
Select item 2685733	GRCh37/hg19 Xp22.2(chrX:11382674-12261598)x2	ARHGAP6, FRMPD4 +1 more	Copy number gain	not provided	GUncertain significance
Select item 2685731	GRCh37/hg19 Xp22.2(chrX:11236687-11884362)x2	AMELX, ARHGAP6 +1 more	Copy number gain	not provided	GUncertain significance
Select item 2685727	GRCh37/hg19 Xp22.33-21.2(chrX:168547-30774453)x2	ACE2, ACOT9 +120 more	Copy number gain	not provided	GPathogenic
Select item 2685690	GRCh37/hg19 Xp22.33-11.22(chrX:2696762-53113314)x1	HDAC6, RGN +275 more	Copy number loss	not provided	GPathogenic
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 2659989	NM_001142.2(AMELX):c.279C>T (p.Pro93=)	AMELX, ARHGAP6	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2659988	NM_001142.2(AMELX):c.126C>T (p.Tyr42=)	AMELX, ARHGAP6	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 2659986	NM_013427.3(ARHGAP6):c.634A>C (p.Arg212=)	ARHGAP6	Single nucleotide variant (synonymous variant +1 more)	not provided	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 2659984	NM_013427.3(ARHGAP6):c.2784C>T (p.Ser928=)	ARHGAP6	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 2659981	NC_000023.11:g.11120047T>C	ARHGAP6, HCCS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2610126	NM_001142.2(AMELX):c.457C>A (p.Pro153Thr)	AMELX, ARHGAP6 (P137T +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
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 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 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 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 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 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 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 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 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 2506546	GRCh37/hg19 Xp22.33-q28(chrX:200855-155240074)	ABCB7, ABCD1 +818 more	Copy number gain	Klinefelter syndrome	GPathogenic
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 2489001	NM_001142.2(AMELX):c.171G>A (p.Met57Ile)	AMELX, ARHGAP6 (M41I +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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 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 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 2445234	NM_001142.2(AMELX):c.47C>A (p.Ala16Asp)	AMELX, ARHGAP6 (A16D)	Single nucleotide variant (missense variant +1 more)	Amelogenesis imperfecta type 1E	GLikely pathogenic
Select item 2424250	NC_000023.10:g.(?_8501036)_(11318732_?)del	ARHGAP6, CLCN4 +10 more	Deletion	not provided	GPathogenic
Select item 2404463	NM_001142.2(AMELX):c.307G>A (p.Val103Ile)	AMELX, ARHGAP6 (V103I +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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 2362820	NM_001142.2(AMELX):c.103-111A>G	AMELX, ARHGAP6 (N42S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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 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 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 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 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 2275114	NM_001142.2(AMELX):c.170T>C (p.Met57Thr)	AMELX, ARHGAP6 (M41T +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
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 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 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 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 1808678	GRCh37/hg19 Xp22.33-22.2(chrX:2703633-14515021)x2	AMELX, ANOS1 +42 more	Copy number gain	not provided	GPathogenic
Select item 1808437	GRCh37/hg19 Xp22.2(chrX:11035791-11457856)x2	AMELX, ARHGAP6 +1 more	Copy number gain	not provided	GUncertain significance
Select item 1808256	GRCh37/hg19 Xp22.2(chrX:10523045-12103994)x3	AMELX, ARHGAP6 +3 more	Copy number gain	not provided	GUncertain significance
Select item 1807620	GRCh37/hg19 Xp22.2(chrX:10843953-11679385)x3	AMELX, ARHGAP6 +2 more	Copy number gain	not provided	GUncertain significance
Select item 1707442	GRCh37/hg19 Xp22.2-q28(chrX:11522765-155233731)x1	ABCB7, ABCD1 +790 more	Copy number loss	See cases	GPathogenic
Select item 1704345	GRCh37/hg19 Xp22.33-q28(chrX:61545-155226048)x2	ABCB7, ABCD1 +818 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 1703583	GRCh37/hg19 Xp22.33-11.21(chrX:168546-57841304)	ACE2, ACOT9 +315 more	Copy number loss	Turner syndrome	GPathogenic
Select item 1703582	Single allele	ADGRG2, ACE2 +309 more	Complex	Turner syndrome	GPathogenic
Select item 1703581	GRCh37/hg19 Xp22.33-11.22(chrX:168546-52573789)	ACE2, ACOT9 +267 more	Copy number loss	Turner syndrome	GPathogenic
Select item 1703580	GRCh37/hg19 Xp22.33-q28(chrX:1-155270560)	ABCB7, ABCD1 +819 more	Copy number loss	Turner syndrome	GPathogenic
Select item 1703579	GRCh37/hg19 Xp22.33-q28(chrX:1-155270560)	AKAP14, CT47A11 +819 more	Copy number gain	Hypotonia +2 more	GPathogenic
Select item 1526757	GRCh37/hg19 Xp22.2(chrX:10821866-11220294)	ARHGAP6, HCCS +1 more	Copy number gain	not specified	GUncertain significance
Select item 1341794	NC_000023.11:g.11664613_12174602dup	ARHGAP6, FRMPD4 +5 more	Duplication	Intellectual disability, X-linked 104	GUncertain significance
Select item 1341233	GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1	RADX, RAI2 +818 more	Copy number loss	not provided	GPathogenic
Select item 1341223	GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3	GPM6B, KLHL15 +818 more	Copy number gain	not provided	GPathogenic
Select item 1341132	GRCh37/hg19 Xp22.2(chrX:11091133-11291610)x3	ARHGAP6, HCCS	Copy number gain	not provided	GUncertain significance
Select item 1340356	GRCh37/hg19 Xp22.2(chrX:11137373-11748584)x2	AMELX, ARHGAP6 +1 more	Copy number gain	not provided	GUncertain significance
Select item 1338837	GRCh38/hg38 Xp22.2(chrX:11240104-11903527)	LOC125446271, LOC130067939 +12 more	Copy number gain	Diaphragmatic hernia	GUncertain significance
Select item 1323884	NM_001142.2(AMELX):c.289C>T (p.Gln97Ter)	AMELX, ARHGAP6 (Q111* +2 more)	Single nucleotide variant (nonsense +1 more)	Amelogenesis imperfecta type 1E	GLikely pathogenic
Select item 1281204	NM_001142.2(AMELX):c.54+65T>C	AMELX, ARHGAP6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1276391	NM_001142.2(AMELX):c.55-265G>A	AMELX, ARHGAP6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1249778	NM_001142.2(AMELX):c.-12-300A>T	AMELX, ARHGAP6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1225016	NM_001142.2(AMELX):c.570+158G>A	ARHGAP6, AMELX	Single nucleotide variant (intron variant)	not provided	GBenign

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