ARFGAP2[gene] - ClinVar

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Items: 58

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148316	GRCh38/hg38 11p12-11.12(chr11:39179252-49135735)x1	ACCS, ACCSL +265 more	Copy number loss	See cases	GPathogenic
Select item 146079	GRCh38/hg38 11p12-11.2(chr11:41118322-48643003)x1	ACCS, ACCSL +259 more	Copy number loss	See cases	GPathogenic
Select item 150595	GRCh38/hg38 11p12-11.12(chr11:42727555-49135735)x3	ACCS, ACCSL +255 more	Copy number gain	See cases	GLikely pathogenic
Select item 57329	GRCh38/hg38 11p11.2(chr11:46840454-48643003)x1	ACP2, AGBL2 +88 more	Copy number loss	See cases	GPathogenic
Select item 3038983	NM_032389.6(ARFGAP2):c.*4G>A	ARFGAP2	Single nucleotide variant (3 prime UTR variant)	ARFGAP2-related disorder	GBenign
Select item 3044117	NM_032389.6(ARFGAP2):c.1555G>A (p.Gly519Ser)	ARFGAP2 (G491S +2 more)	Single nucleotide variant (missense variant)	ARFGAP2-related disorder	GLikely benign
Select item 2238519	NM_032389.6(ARFGAP2):c.1445A>T (p.Asn482Ile)	ARFGAP2 (N454I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463889	NM_032389.6(ARFGAP2):c.1315C>T (p.Arg439Trp)	ARFGAP2 (R453W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308052	NM_032389.6(ARFGAP2):c.1262C>T (p.Ala421Val)	ARFGAP2 (A393V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403781	NM_032389.6(ARFGAP2):c.1249G>A (p.Glu417Lys)	ARFGAP2 (E389K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128337	NM_032389.6(ARFGAP2):c.1234C>T (p.Arg412Trp)	ARFGAP2 (R384W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128336	NM_032389.6(ARFGAP2):c.1217G>A (p.Arg406Gln)	ARFGAP2 (R420Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3045169	NM_032389.6(ARFGAP2):c.1216C>T (p.Arg406Trp)	ARFGAP2 (R378W +2 more)	Single nucleotide variant (missense variant)	ARFGAP2-related disorder	GBenign
Select item 2214835	NM_032389.6(ARFGAP2):c.1213A>C (p.Asn405His)	ARFGAP2 (N377H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554282	NM_032389.6(ARFGAP2):c.1190G>A (p.Arg397Gln)	ARFGAP2 (R369Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128335	NM_032389.6(ARFGAP2):c.1168G>C (p.Glu390Gln)	ARFGAP2 (E404Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591197	NM_032389.6(ARFGAP2):c.1159A>G (p.Lys387Glu)	ARFGAP2 (K359E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3310003	NM_032389.6(ARFGAP2):c.1109G>A (p.Gly370Asp)	ARFGAP2 (G342D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599310	NM_032389.6(ARFGAP2):c.1102A>G (p.Ser368Gly)	ARFGAP2 (S340G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2229509	NM_032389.6(ARFGAP2):c.1097G>A (p.Gly366Glu)	ARFGAP2 (G338E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275697	NM_032389.6(ARFGAP2):c.1046G>A (p.Gly349Asp)	ARFGAP2 (G321D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3055789	NM_032389.6(ARFGAP2):c.1016G>A (p.Arg339His)	ARFGAP2 (R311H +2 more)	Single nucleotide variant (missense variant)	ARFGAP2-related disorder	GBenign
Select item 3048473	NM_032389.6(ARFGAP2):c.1016G>T (p.Arg339Leu)	ARFGAP2 (R311L +2 more)	Single nucleotide variant (missense variant)	ARFGAP2-related disorder	GLikely benign
Select item 2524831	NM_032389.6(ARFGAP2):c.1009T>G (p.Ser337Ala)	ARFGAP2 (S351A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128344	NM_032389.6(ARFGAP2):c.866A>G (p.Glu289Gly)	ARFGAP2 (E289G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350563	NM_032389.6(ARFGAP2):c.857A>T (p.Lys286Met)	ARFGAP2 (K300M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549304	NM_032389.6(ARFGAP2):c.854G>T (p.Arg285Leu)	ARFGAP2 (R299L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128343	NM_032389.6(ARFGAP2):c.820A>G (p.Met274Val)	ARFGAP2 (M288V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3055614	NM_032389.6(ARFGAP2):c.809+6T>C	ARFGAP2	Single nucleotide variant (intron variant)	ARFGAP2-related disorder	GBenign
Select item 3045780	NM_032389.6(ARFGAP2):c.798G>A (p.Ala266=)	ARFGAP2	Single nucleotide variant (synonymous variant)	ARFGAP2-related disorder	GBenign
Select item 2468590	NM_032389.6(ARFGAP2):c.797C>T (p.Ala266Val)	ARFGAP2 (A238V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253703	NM_032389.6(ARFGAP2):c.775G>A (p.Ala259Thr)	ARFGAP2 (A273T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599645	NM_032389.6(ARFGAP2):c.764G>A (p.Arg255His)	ARFGAP2 (R227H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3037295	NM_032389.6(ARFGAP2):c.763C>T (p.Arg255Cys)	ARFGAP2 (R227C +2 more)	Single nucleotide variant (missense variant)	ARFGAP2-related disorder	GBenign
Select item 3042168	NM_032389.6(ARFGAP2):c.674T>C (p.Leu225Pro)	ARFGAP2 (L197P +2 more)	Single nucleotide variant (missense variant)	ARFGAP2-related disorder	GBenign
Select item 3310013	NM_032389.6(ARFGAP2):c.673C>G (p.Leu225Val)	ARFGAP2 (L225V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128342	NM_032389.6(ARFGAP2):c.566C>T (p.Pro189Leu)	ARFGAP2 (P189L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558823	NM_032389.6(ARFGAP2):c.538T>C (p.Ser180Pro)	ARFGAP2 (S180P +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3128340	NM_032389.6(ARFGAP2):c.511C>A (p.Pro171Thr)	ARFGAP2 (P143T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396673	NM_032389.6(ARFGAP2):c.412A>G (p.Met138Val)	ARFGAP2 (M138V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3050274	NM_032389.6(ARFGAP2):c.396+7G>A	ARFGAP2	Single nucleotide variant (intron variant)	ARFGAP2-related disorder	GLikely benign
Select item 2553882	NM_032389.6(ARFGAP2):c.355C>T (p.Arg119Trp)	ARFGAP2 (R119W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3033646	NM_032389.6(ARFGAP2):c.308A>G (p.Asn103Ser)	ARFGAP2 (N103S)	Single nucleotide variant (missense variant)	ARFGAP2-related disorder	GLikely benign
Select item 3040603	NM_032389.6(ARFGAP2):c.265-10T>C	ARFGAP2	Single nucleotide variant (intron variant)	ARFGAP2-related disorder	GLikely benign
Select item 2297502	NM_032389.6(ARFGAP2):c.232A>T (p.Arg78Trp)	ARFGAP2 (R78W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128338	NM_032389.6(ARFGAP2):c.212A>G (p.Asn71Ser)	ARFGAP2 (N71S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3040288	NM_032389.6(ARFGAP2):c.191+6C>T	ARFGAP2	Single nucleotide variant (intron variant)	ARFGAP2-related disorder	GLikely benign
Select item 3128339	NM_032389.6(ARFGAP2):c.23C>G (p.Thr8Ser)	ARFGAP2, LOC130005668 (T8S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3033986	NM_032389.6(ARFGAP2):c.-9G>A	ARFGAP2	Single nucleotide variant (5 prime UTR variant)	ARFGAP2-related disorder	GLikely benign
Select item 2426467	NC_000011.9:g.(?_45827353)_(47804770_?)del	ACP2, AGBL2 +40 more	Deletion	Leukocyte adhesion deficiency type II	GPathogenic
Select item 1707422	GRCh37/hg19 11p11.2-q12.2(chr11:51581311-54891247)x3	ACP2, ACCS +216 more	Copy number gain	See cases	GPathogenic
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	MAML2, MAP3K11 +955 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1459820	NC_000011.9:g.(?_46880534)_(47470516_?)del	ACP2, ARFGAP2 +12 more	Deletion	Congenital myasthenic syndrome 11 +1 more	GPathogenic
Select item 1000344	NC_000011.9:g.(?_45827353)_(47804770_?)dup	ARHGAP1, ATG13 +40 more	Duplication	Leukocyte adhesion deficiency type II	GUncertain significance
Select item 997825	Single allele	MMP13, MMP20 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 525135	NC_000011.9:g.(?_46880514)_(47470726_?)del	MADD-AS1, ARFGAP2 +12 more	Deletion	Hypertrophic cardiomyopathy	GPathogenic
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	SLC37A4, SNORD26 +1289 more	Copy number gain	See cases	GPathogenic

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Items: 58