ClinVar for Gene (Select 5926) - ClinVar

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Links from Gene

Items: 72

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3129469	NM_002892.4(ARID4A):c.785A>C (p.Asp262Ala)	ARID4A (D262A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129468	NM_002892.4(ARID4A):c.774A>T (p.Arg258Ser)	ARID4A (R258S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129467	NM_002892.4(ARID4A):c.674C>A (p.Ala225Glu)	ARID4A (A225E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129466	NM_002892.4(ARID4A):c.673G>A (p.Ala225Thr)	ARID4A (A225T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129465	NM_002892.4(ARID4A):c.3692T>C (p.Met1231Thr)	ARID4A, TOMM20L-DT (M1231T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129464	NM_002892.4(ARID4A):c.3680C>T (p.Ala1227Val)	ARID4A, TOMM20L-DT (A1158V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129463	NM_002892.4(ARID4A):c.3514T>G (p.Phe1172Val)	ARID4A (F1172V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3129461	NM_002892.4(ARID4A):c.3371C>T (p.Thr1124Ile)	ARID4A (T1124I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3129460	NM_002892.4(ARID4A):c.3266G>A (p.Arg1089His)	ARID4A (R1089H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129459	NM_002892.4(ARID4A):c.3080T>C (p.Ile1027Thr)	ARID4A (I1027T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129458	NM_002892.4(ARID4A):c.2461C>A (p.Pro821Thr)	ARID4A (P821T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129457	NM_002892.4(ARID4A):c.2380G>A (p.Gly794Arg)	ARID4A (G794R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129456	NM_002892.4(ARID4A):c.2342A>T (p.Glu781Val)	ARID4A (E781V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129455	NM_002892.4(ARID4A):c.2082C>G (p.Asp694Glu)	ARID4A (D694E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129454	NM_002892.4(ARID4A):c.1453G>A (p.Glu485Lys)	ARID4A (E485K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129453	NM_002892.4(ARID4A):c.112G>A (p.Val38Ile)	ARID4A (V38I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2685487	GRCh37/hg19 14q22.3-23.2(chr14:55667390-64447598)x1	HIF1A, HIF1A-AS2 +47 more	Copy number loss	not provided	GPathogenic
Select item 2684726	GRCh37/hg19 14q22.3-24.1(chr14:57588965-68334517)x3	ACTR10, AKAP5 +71 more	Copy number gain	not provided	GLikely pathogenic
Select item 2684714	GRCh37/hg19 14q11.2-23.1(chr14:20511673-61826023)x3	ABHD12B, ABHD4 +289 more	Copy number gain	not provided	GPathogenic
Select item 2623420	NM_002892.4(ARID4A):c.3091A>G (p.Ser1031Gly)	ARID4A (S1031G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610462	NM_002892.4(ARID4A):c.3278G>A (p.Arg1093Gln)	ARID4A (R1093Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2578725	GRCh37/hg19 14q22.3-23.1(chr14:57675327-59806898)x1	DAAM1, ACTR10 +12 more	Copy number loss	not provided	GUncertain significance
Select item 2536609	NM_002892.4(ARID4A):c.3470G>C (p.Arg1157Thr)	ARID4A (R1157T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2535062	NM_002892.4(ARID4A):c.1256A>G (p.Glu419Gly)	ARID4A (E419G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528674	NM_002892.4(ARID4A):c.3268A>G (p.Thr1090Ala)	ARID4A (T1090A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519176	NM_002892.4(ARID4A):c.3365A>C (p.Lys1122Thr)	ARID4A (K1122T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2484553	NM_002892.4(ARID4A):c.1210A>C (p.Asn404His)	ARID4A (N404H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456236	NM_002892.4(ARID4A):c.703C>G (p.Leu235Val)	ARID4A (L235V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411526	NM_002892.4(ARID4A):c.1352T>A (p.Ile451Asn)	ARID4A (I451N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410206	NM_002892.4(ARID4A):c.2399A>C (p.Lys800Thr)	ARID4A (K800T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409101	NM_002892.4(ARID4A):c.2624T>A (p.Met875Lys)	ARID4A (M875K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405768	NM_002892.4(ARID4A):c.3188A>G (p.Gln1063Arg)	ARID4A (Q1063R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405528	NM_002892.4(ARID4A):c.3055G>A (p.Val1019Ile)	ARID4A (V1019I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2355427	NM_002892.4(ARID4A):c.2039C>T (p.Pro680Leu)	ARID4A (P680L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354126	NM_002892.4(ARID4A):c.2521G>C (p.Ala841Pro)	ARID4A (A841P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353202	NM_002892.4(ARID4A):c.620A>G (p.Lys207Arg)	ARID4A (K207R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348828	NM_002892.4(ARID4A):c.1025A>G (p.Asn342Ser)	ARID4A (N342S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344680	NM_002892.4(ARID4A):c.2958C>G (p.Asn986Lys)	ARID4A (N986K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330908	NM_002892.4(ARID4A):c.3056T>C (p.Val1019Ala)	ARID4A (V1019A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323473	NM_002892.4(ARID4A):c.2281G>C (p.Glu761Gln)	ARID4A (E761Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320372	NM_002892.4(ARID4A):c.1034A>G (p.Lys345Arg)	ARID4A (K345R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310949	NM_002892.4(ARID4A):c.2672G>T (p.Gly891Val)	ARID4A (G891V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300497	NM_002892.4(ARID4A):c.2042A>G (p.Tyr681Cys)	ARID4A (Y681C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273999	NM_002892.4(ARID4A):c.3437C>T (p.Pro1146Leu)	ARID4A (P1146L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2269836	NM_002892.4(ARID4A):c.1282A>G (p.Met428Val)	ARID4A (M428V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268995	NM_002892.4(ARID4A):c.3194G>A (p.Arg1065Lys)	ARID4A (R1065K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260887	NM_002892.4(ARID4A):c.707A>G (p.Asn236Ser)	ARID4A (N236S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2258125	NM_002892.4(ARID4A):c.1196A>T (p.Tyr399Phe)	ARID4A (Y399F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2256743	NM_002892.4(ARID4A):c.1471G>A (p.Asp491Asn)	ARID4A (D491N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243446	NM_002892.4(ARID4A):c.2726A>C (p.Glu909Ala)	ARID4A (E909A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212724	NM_002892.4(ARID4A):c.1794C>G (p.Ser598Arg)	ARID4A (S598R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1809007	GRCh37/hg19 14q23.1(chr14:58833909-59109480)x3	ARID4A, DACT1 +3 more	Copy number gain	not provided	GUncertain significance
Select item 1807640	GRCh37/hg19 14q22.3-23.2(chr14:57804997-63590203)x1	ACTR10, ARID4A +32 more	Copy number loss	not provided	GLikely pathogenic
Select item 1707441	GRCh37/hg19 14q13.3-32.33(chr14:37671058-106985955)x2	ABCD4, ABHD12B +447 more	Copy number gain	See cases	GPathogenic
Select item 1686464	NM_002892.4(ARID4A):c.1854G>T (p.Arg618Ser)	ARID4A (R618S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1458692	NC_000014.8:g.(?_58711639)_(59014694_?)del	ARID4A, KIAA0586 +3 more	Deletion	Short-rib thoracic dysplasia 14 with polydactyly +1 more	GPathogenic
Select item 1162192	GRCh37/hg19 14q22.2-24.3(chr14:54654001-75828024)x3	AP5M1, EXOC5 +158 more	Copy number gain	14q22.2q24.3 duplication	GLikely pathogenic
Select item 815662	GRCh37/hg19 14q23.1(chr14:58735449-58853507)x3	PSMA3, ARID4A	Copy number gain	not provided	GUncertain significance
Select item 815660	GRCh37/hg19 14q22.3-23.1(chr14:56605398-59404256)x1	ACTR10, AP5M1 +14 more	Copy number loss	not provided	GPathogenic
Select item 800352	NM_002892.4(ARID4A):c.2614G>T (p.Glu872Ter)	ARID4A (E872*)	Single nucleotide variant (nonsense)	Multiple myeloma	GLikely pathogenic
Select item 443977	GRCh37/hg19 14q11.2-32.33(chr14:20511673-107285437)	ABCD4, ABHD12B +624 more	Copy number gain	See cases	GPathogenic
Select item 395470	GRCh37/hg19 14q11.2-32.33(chr14:19794561-107234280)x3	ACTN1, ACTR10 +635 more	Copy number gain	See cases	GPathogenic
Select item 369985	GRCh37/hg19 14q23.1(chr14:58737402-58891576)x1	TOMM20L, ARID4A +2 more	Copy number loss	Thyroid hemiagenesis	GLikely pathogenic
Select item 369984	GRCh37/hg19 14q23.1(chr14:58737402-58884615)x1	TOMM20L, ARID4A +2 more	Copy number loss	Thyroid hemiagenesis	GLikely pathogenic
Select item 281165	NM_002892.4(ARID4A):c.3211+1G>A	ARID4A	Single nucleotide variant (splice donor variant)	not provided	GConflicting classifications of pathogenicity
Select item 157309	NC_000014.9:g.58304914_58332643dup	ARID4A, LOC130055731	Duplication	Normal pregnancy	Gnot provided
Select item 155360	GRCh38/hg38 14q23.1(chr14:58288658-58509423)x1	ARID4A, KIAA0586 +12 more	Copy number loss	See cases	GUncertain significance
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC126861920, LOC126861921 +3280 more	Copy number gain	See cases	GPathogenic
Select item 149300	GRCh38/hg38 14q23.1-23.2(chr14:57653413-64093528)x1	ACTR10, ARID4A +202 more	Copy number loss	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	GSC, GSC-DT +3275 more	Copy number gain	See cases	GPathogenic
Select item 57782	GRCh38/hg38 14q23.1(chr14:58146022-61273619)x1	ACTR10, ARID4A +113 more	Copy number loss	See cases	GPathogenic
Select item 57781	GRCh38/hg38 14q22.3-23.3(chr14:57041036-67208231)x1	ACTR10, AKAP5 +344 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 72