ARHGAP19[gene] - ClinVar

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Items: 52

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58776	GRCh38/hg38 10q23.33-24.2(chr10:92626680-97755102)x1	LOC105378448, LOC107195252 +245 more	Copy number loss	See cases	GPathogenic
Select item 58777	GRCh38/hg38 10q23.33-24.32(chr10:93181201-101356779)x1	LOC130004555, LOC130004556 +375 more	Copy number loss	See cases	GPathogenic
Select item 57116	GRCh38/hg38 10q23.33-25.3(chr10:95112607-116776637)x3	LOC130004500, LOC130004501 +821 more	Copy number gain	See cases	GPathogenic
Select item 2542653	NM_032900.6(ARHGAP19):c.1421C>T (p.Thr474Met)	ARHGAP19, ARHGAP19-SLIT1 (T474M +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2473472	NM_032900.6(ARHGAP19):c.1252G>A (p.Ala418Thr)	ARHGAP19, ARHGAP19-SLIT1 (A389T +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3311018	NM_032900.6(ARHGAP19):c.1246A>G (p.Lys416Glu)	ARHGAP19, ARHGAP19-SLIT1 (K416E +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2331592	NM_032900.6(ARHGAP19):c.1220G>T (p.Arg407Leu)	ARHGAP19, ARHGAP19-SLIT1 (R407L +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3310997	NM_032900.6(ARHGAP19):c.1195C>G (p.Gln399Glu)	ARHGAP19, ARHGAP19-SLIT1 (Q399E +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2365445	NM_032900.6(ARHGAP19):c.1178T>C (p.Ile393Thr)	ARHGAP19, ARHGAP19-SLIT1 (I384T +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2619796	NM_032900.6(ARHGAP19):c.1138G>A (p.Val380Ile)	ARHGAP19, ARHGAP19-SLIT1 (V351I +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3128552	NM_032900.6(ARHGAP19):c.1106C>T (p.Thr369Met)	ARHGAP19, ARHGAP19-SLIT1 (T369M +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2207157	NM_032900.6(ARHGAP19):c.1093A>G (p.Thr365Ala)	ARHGAP19, ARHGAP19-SLIT1 (T336A +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3310987	NM_032900.6(ARHGAP19):c.1063C>T (p.Arg355Trp)	ARHGAP19, ARHGAP19-SLIT1 (R326W +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2351526	NM_032900.6(ARHGAP19):c.985G>T (p.Ala329Ser)	ARHGAP19, ARHGAP19-SLIT1 (A329S +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2640736	NM_032900.6(ARHGAP19):c.961C>T (p.His321Tyr)	ARHGAP19, ARHGAP19-SLIT1 (H292Y +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2244428	NM_032900.6(ARHGAP19):c.960G>C (p.Leu320Phe)	ARHGAP19, ARHGAP19-SLIT1 (L291F +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3311007	NM_032900.6(ARHGAP19):c.956G>T (p.Arg319Ile)	ARHGAP19, ARHGAP19-SLIT1 (R319I +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3128559	NM_032900.6(ARHGAP19):c.922T>C (p.Phe308Leu)	ARHGAP19, ARHGAP19-SLIT1 (F308L +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2356621	NM_032900.6(ARHGAP19):c.719G>A (p.Arg240His)	ARHGAP19, ARHGAP19-SLIT1 (R231H +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2527719	NM_032900.6(ARHGAP19):c.667C>T (p.Arg223Trp)	ARHGAP19, ARHGAP19-SLIT1 (R214W +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2228510	NM_032900.6(ARHGAP19):c.661A>G (p.Lys221Glu)	ARHGAP19, ARHGAP19-SLIT1 (K221E +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2615783	NM_032900.6(ARHGAP19):c.582T>G (p.His194Gln)	ARHGAP19, ARHGAP19-SLIT1 (H194Q +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3128558	NM_032900.6(ARHGAP19):c.546G>A (p.Met182Ile)	ARHGAP19, ARHGAP19-SLIT1 (M182I +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3128557	NM_032900.6(ARHGAP19):c.472C>T (p.Leu158Phe)	ARHGAP19, ARHGAP19-SLIT1 (L158F +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2318800	NM_032900.6(ARHGAP19):c.442A>G (p.Ser148Gly)	ARHGAP19, ARHGAP19-SLIT1 (S139G +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3128556	NM_032900.6(ARHGAP19):c.386T>C (p.Ile129Thr)	ARHGAP19, ARHGAP19-SLIT1 (I129T +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2488393	NM_032900.6(ARHGAP19):c.344C>T (p.Ser115Phe)	ARHGAP19, ARHGAP19-SLIT1 (S115F +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2484552	NM_032900.6(ARHGAP19):c.317G>A (p.Arg106Gln)	ARHGAP19, ARHGAP19-SLIT1 (R106Q +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2258810	NM_032900.6(ARHGAP19):c.269G>T (p.Gly90Val)	ARHGAP19, ARHGAP19-SLIT1 (G81V +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2261107	NM_032900.6(ARHGAP19):c.236T>C (p.Leu79Pro)	ARHGAP19, ARHGAP19-SLIT1 (L70P +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2219334	NM_032900.6(ARHGAP19):c.191A>G (p.Asn64Ser)	ARHGAP19, ARHGAP19-SLIT1 (N55S +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3128553	NM_032900.6(ARHGAP19):c.143A>C (p.Lys48Thr)	ARHGAP19, ARHGAP19-SLIT1 (K48T +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2619281	NM_032900.6(ARHGAP19):c.47C>G (p.Ser16Cys)	ARHGAP19, ARHGAP19-SLIT1 (S16C)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3128555	NM_032900.6(ARHGAP19):c.29A>C (p.Glu10Ala)	ARHGAP19, ARHGAP19-SLIT1 (E10A)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2396178	NM_032900.6(ARHGAP19):c.28G>C (p.Glu10Gln)	ARHGAP19, ARHGAP19-SLIT1 (E10Q)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3063183	GRCh37/hg19 10q23.33-24.2(chr10:94283369-101820913)x1	ABCC2, ACSM6 +74 more	Copy number loss	not specified	GPathogenic
Select item 3063164	GRCh37/hg19 10q23.33-26.3(chr10:95078198-135427143)x3	ABCC2, ABLIM1 +293 more	Copy number gain	not specified	GPathogenic
Select item 3063132	GRCh37/hg19 10q23.31-24.2(chr10:90796994-100067505)x1	ACSM6, ALDH18A1 +83 more	Copy number loss	not specified	GPathogenic
Select item 2684602	GRCh37/hg19 10q11.21-24.2(chr10:42709645-100834951)x3	RRP12, RTKN2 +332 more	Copy number gain	not provided	GPathogenic
Select item 2574696	GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143)	AGAP5, CRTAC1 +682 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574686	GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143)	ABRAXAS2, CHCHD1 +673 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 1808078	GRCh37/hg19 10q24.1-24.2(chr10:99027360-99300723)x1	ARHGAP19, EXOSC1 +7 more	Copy number loss	not provided	GUncertain significance
Select item 684917	GRCh37/hg19 10q24.1(chr10:98873648-99006083)x3	ARHGAP19, SLIT1	Copy number gain	not provided	GUncertain significance
Select item 563802	GRCh37/hg19 10q23.33-26.3(chr10:94346520-135427143)x3	ABCC2, ABLIM1 +298 more	Copy number gain	not provided	GPathogenic
Select item 523165	GRCh37/hg19 10q11.21-26.3(chr10:42347406-135534747)x1	COX15, CPEB3 +569 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 443323	GRCh37/hg19 10q23.32-26.3(chr10:93283493-135427143)x3	ABCC2, ABLIM1 +305 more	Copy number gain	See cases	GPathogenic
Select item 441987	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)	INA, INPP5A +721 more	Copy number gain	See cases	GPathogenic
Select item 441986	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3	A1CF, ABCC2 +721 more	Copy number gain	See cases	GPathogenic
Select item 441822	GRCh37/hg19 10q23.32-24.2(chr10:93908171-101809723)x1	ABCC2, ACSM6 +76 more	Copy number loss	See cases	GPathogenic
Select item 393995	GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3	A1CF, ABCC2 +722 more	Copy number gain	See cases	GPathogenic
Select item 377387	GRCh37/hg19 10q23.1-25.1(chr10:85557432-105804295)x1	CYP17A1, KLLN +206 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 253819	GRCh37/hg19 10q24.1(chr10:98941691-99153357)x3	FRAT1, FRAT2 +3 more	Copy number gain	See cases	GUncertain significance

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Items: 52