ARFGAP3[gene] - ClinVar

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Items: 78

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144164	GRCh38/hg38 22q11.1-13.33(chr22:16916608-50739836)x3	IL17RA, LINC01640 +2088 more	Copy number gain	See cases	GPathogenic
Select item 145336	GRCh38/hg38 22q11.1-13.33(chr22:16916743-50739785)x3	LOC130067403, LOC130067404 +2088 more	Copy number gain	See cases	GPathogenic
Select item 57942	GRCh38/hg38 22q12.3-13.33(chr22:37061769-50738932)x3	LOC130067651, LOC130067652 +1004 more	Copy number gain	See cases	GPathogenic
Select item 145111	GRCh38/hg38 22q13.1-13.33(chr22:40202014-50735806)x3	LOC130067596, LOC130067597 +687 more	Copy number gain	See cases	GPathogenic
Select item 147775	GRCh38/hg38 22q13.2-13.33(chr22:41871143-50739836)x1	A4GALT, ACR +580 more	Copy number loss	See cases	GPathogenic
Select item 154688	GRCh38/hg38 22q13.2-13.33(chr22:42080077-50739836)x3	LOC126863184, LOC126863185 +541 more	Copy number gain	See cases	GPathogenic
Select item 146215	GRCh38/hg38 22q13.2-13.31(chr22:42197923-47305564)x4	LOC130067605, LOC130067606 +303 more	Copy number gain	See cases	GPathogenic
Select item 153178	GRCh38/hg38 22q13.2-13.33(chr22:42380961-50759410)x3	LOC126863187, LOC126863188 +523 more	Copy number gain	See cases	GPathogenic
Select item 57636	GRCh38/hg38 22q13.2-13.33(chr22:42433752-50738932)x1	A4GALT, ACR +521 more	Copy number loss	See cases	GPathogenic
Select item 147622	GRCh38/hg38 22q13.2-13.33(chr22:42493445-50268479)x1	A4GALT, ALG12 +428 more	Copy number loss	See cases	GPathogenic
Select item 57944	GRCh38/hg38 22q13.2-13.33(chr22:42599757-50725241)x3	A4GALT, ADM2 +502 more	Copy number gain	See cases	GPathogenic
Select item 57945	GRCh38/hg38 22q13.2-13.33(chr22:42653747-50739836)x3	LOC126863187, LOC126863188 +495 more	Copy number gain	See cases	GPathogenic
Select item 148050	GRCh38/hg38 22q13.2-13.33(chr22:42710276-50739836)x3	CIMAP1B, CPT1B +492 more	Copy number gain	See cases	GPathogenic
Select item 221772	GRCh38/hg38 22q13.2(chr22:42726714-43104206)x1	ARFGAP3, LOC112695101 +19 more	Copy number loss	Premature ovarian failure	GUncertain significance
Select item 2206532	NM_014570.5(ARFGAP3):c.1547C>G (p.Ser516Cys)	ARFGAP3 (S516C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2617337	NM_014570.5(ARFGAP3):c.1528A>G (p.Ile510Val)	ARFGAP3 (I466V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245215	NM_014570.5(ARFGAP3):c.1511A>G (p.Asn504Ser)	ARFGAP3 (N504S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368856	NM_014570.5(ARFGAP3):c.1450G>A (p.Asp484Asn)	ARFGAP3 (D484N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396470	NM_014570.5(ARFGAP3):c.1373C>T (p.Ser458Leu)	ARFGAP3 (S458L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341481	NM_014570.5(ARFGAP3):c.1337G>A (p.Arg446His)	ARFGAP3 (R402H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2653260	NM_014570.5(ARFGAP3):c.1292T>C (p.Met431Thr)	ARFGAP3 (M387T +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2489612	NM_014570.5(ARFGAP3):c.1259A>C (p.Lys420Thr)	ARFGAP3 (K376T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594985	NM_014570.5(ARFGAP3):c.1210C>T (p.Arg404Cys)	ARFGAP3 (R360C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455538	NM_014570.5(ARFGAP3):c.1210C>G (p.Arg404Gly)	ARFGAP3 (R404G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554990	NM_014570.5(ARFGAP3):c.1208G>C (p.Arg403Pro)	ARFGAP3 (R359P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128345	NM_014570.5(ARFGAP3):c.1201A>T (p.Thr401Ser)	ARFGAP3 (T401S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528451	NM_014570.5(ARFGAP3):c.1095C>G (p.Ser365Arg)	ARFGAP3 (S365R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235835	NM_014570.5(ARFGAP3):c.1039G>A (p.Asp347Asn)	ARFGAP3 (D347N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343939	NM_014570.5(ARFGAP3):c.997A>C (p.Ile333Leu)	ARFGAP3 (I333L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2412096	NM_014570.5(ARFGAP3):c.995C>T (p.Pro332Leu)	ARFGAP3 (P288L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216606	NM_014570.5(ARFGAP3):c.994C>T (p.Pro332Ser)	ARFGAP3 (P288S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281536	NM_014570.5(ARFGAP3):c.962C>T (p.Thr321Ile)	ARFGAP3 (T321I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225343	NM_014570.5(ARFGAP3):c.896A>G (p.Asn299Ser)	ARFGAP3 (N299S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355365	NM_014570.5(ARFGAP3):c.755C>T (p.Ala252Val)	ARFGAP3 (A208V +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2526408	NM_014570.5(ARFGAP3):c.744A>T (p.Gln248His)	ARFGAP3 (Q204H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552591	NM_014570.5(ARFGAP3):c.657T>A (p.Asn219Lys)	ARFGAP3 (N219K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 57669	GRCh38/hg38 22q13.2-13.33(chr22:42826246-50739836)x1	LOC130067640, LOC130067641 +483 more	Copy number loss	See cases	GPathogenic
Select item 3128350	NM_014570.5(ARFGAP3):c.559A>G (p.Asn187Asp)	ARFGAP3 (N187D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2622627	NM_014570.5(ARFGAP3):c.545C>G (p.Thr182Ser)	ARFGAP3 (T138S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408750	NM_014570.5(ARFGAP3):c.518C>A (p.Ser173Tyr)	ARFGAP3 (S173Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607996	NM_014570.5(ARFGAP3):c.406A>G (p.Ser136Gly)	ARFGAP3 (S136G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128348	NM_014570.5(ARFGAP3):c.278A>T (p.Gln93Leu)	ARFGAP3 (Q93L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 152914	GRCh38/hg38 22q13.2-13.33(chr22:42837094-50735806)x1	ADM2, ALG12 +481 more	Copy number loss	See cases	GPathogenic
Select item 2516459	NM_014570.5(ARFGAP3):c.244G>A (p.Gly82Arg)	ARFGAP3 (G82R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128347	NM_014570.5(ARFGAP3):c.237G>A (p.Met79Ile)	ARFGAP3 (M79I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316610	NM_014570.5(ARFGAP3):c.197A>G (p.Glu66Gly)	ARFGAP3 (E66G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128351	NM_014570.5(ARFGAP3):c.91A>G (p.Lys31Glu)	ARFGAP3 (K31E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128349	NM_014570.5(ARFGAP3):c.43C>T (p.Arg15Cys)	ARFGAP3 (R15C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062451	GRCh37/hg19 22q13.2-13.33(chr22:43107363-51156692)x1	A4GALT, ADM2 +78 more	Copy number loss	not specified	GPathogenic
Select item 3062450	GRCh37/hg19 22q13.1-13.31(chr22:39044105-45794212)x3	A4GALT, ACO2 +106 more	Copy number gain	not specified	GPathogenic
Select item 3062439	GRCh37/hg19 22q13.2(chr22:43050979-43264400)x3	A4GALT, ARFGAP3	Copy number gain	not specified	GUncertain significance
Select item 2685680	GRCh37/hg19 22q13.2(chr22:43107917-43260433)x1	A4GALT, ARFGAP3	Copy number loss	not provided	GUncertain significance
Select item 2684938	GRCh37/hg19 22q13.2(chr22:43225115-43777477)x3	ARFGAP3, BIK +6 more	Copy number gain	not provided	GUncertain significance
Select item 1704313	GRCh37/hg19 22q13.2(chr22:43103054-43207442)x1	A4GALT, ARFGAP3	Copy number loss	HETEROTAXY, TGA	GPathogenic
Select item 1526738	GRCh37/hg19 22q13.2-13.33(chr22:42972719-51197838)	A4GALT, ACR +82 more	Copy number loss	not specified	GPathogenic
Select item 1341218	GRCh37/hg19 22q13.2(chr22:42955615-43866280)x1	A4GALT, ARFGAP3 +12 more	Copy number loss	not provided	GUncertain significance
Select item 1330161	GRCh37/hg19 22q13.2-13.33(chr22:42321321-51244066)x1	A4GALT, ACR +96 more	Copy number loss	Phelan-McDermid syndrome	GPathogenic
Select item 1077183	Single allele	A4GALT, ARFGAP3 +19 more	Deletion	Developmental delay with variable intellectual impairment and behavioral abnormalities	GPathogenic
Select item 997819	Single allele	BIK, BRD1 +94 more	Deletion	Intellectual disability	GPathogenic
Select item 997811	Single allele	WBP2NL, ARFGAP3 +21 more	Deletion	Intellectual disability	GPathogenic
Select item 983188	GRCh37/hg19 22q11.1-13.33(chr22:16197005-51224252)x3	A4GALT, ACO2 +438 more	Copy number gain	See cases	GPathogenic
Select item 816565	GRCh37/hg19 22q13.1-13.33(chr22:40502364-51197838)x3	A4GALT, ACO2 +126 more	Copy number gain	not provided	GPathogenic
Select item 816216	GRCh37/hg19 22q12.2-13.33(chr22:30654764-51197838)x3	CERK, CHADL +271 more	Copy number gain	not provided	GPathogenic
Select item 686725	GRCh37/hg19 22q13.2(chr22:43225116-43495351)x1	ARFGAP3, PACSIN2 +1 more	Copy number loss	not provided	GUncertain significance
Select item 685636	GRCh37/hg19 22q11.1-13.33(chr22:16888899-51197838)x3	TUBA8, TUBGCP6 +435 more	Copy number gain	not provided	GPathogenic
Select item 685140	GRCh37/hg19 22q13.2(chr22:42724042-43879561)x3	A4GALT, ARFGAP3 +14 more	Copy number gain	not provided	GUncertain significance
Select item 625737	GRCh37/hg19 22q13.2-13.33(chr22:42416026-51181759)	A4GALT, ACR +92 more	Copy number loss	Phelan-McDermid syndrome	GPathogenic
Select item 565054	GRCh37/hg19 22q13.2-13.33(chr22:42955616-51183840)x1	A4GALT, ACR +83 more	Copy number loss	not provided	GPathogenic
Select item 565053	GRCh37/hg19 22q13.2-13.33(chr22:43111156-51183840)x1	A4GALT, ACR +79 more	Copy number loss	not provided	GPathogenic
Select item 443581	GRCh37/hg19 22q13.2-13.33(chr22:43050743-51197838)x1	A4GALT, ACR +79 more	Copy number loss	See cases	GPathogenic
Select item 441654	GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838)	ANKRD54, AP1B1 +435 more	Copy number gain	See cases	GPathogenic
Select item 441653	GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838)x3	NEFH, NF2 +435 more	Copy number gain	See cases	GPathogenic
Select item 441574	GRCh37/hg19 22q13.2-13.33(chr22:42441918-51197838)x1	A4GALT, ACR +91 more	Copy number loss	See cases	GPathogenic
Select item 395140	GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237463)x3	ZNF280A, ZNF280B +438 more	Copy number gain	See cases	GPathogenic
Select item 394709	GRCh37/hg19 22q11.1-13.33(chr22:16054691-51220902)x3	SMARCB1, SMC1B +438 more	Copy number gain	See cases	GPathogenic
Select item 253617	GRCh37/hg19 22q12.3-13.33(chr22:35728929-51220961)x3	A4GALT, ACO2 +223 more	Copy number gain	See cases	GPathogenic
Select item 253559	GRCh37/hg19 22q13.1-13.33(chr22:40425714-51220961)x3	ADM2, A4GALT +128 more	Copy number gain	See cases	GPathogenic
Select item 253509	GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237518)x3	A4GALT, ACO2 +438 more	Copy number gain	See cases	GPathogenic

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Items: 78