ARAP2[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2579172	GRCh38/hg38 4p16.3-11(chr4:1-49062177)x3	LOC123477714, LOC123477715 +1267 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 148186	GRCh38/hg38 4p16.3-12(chr4:36424-47491595)x3	LOC129992145, LOC129992146 +1209 more	Copy number gain	See cases	GPathogenic
Select item 144195	GRCh38/hg38 4p16.3-14(chr4:72555-39477144)x3	ABLIM2, ACOX3 +1039 more	Copy number gain	See cases	GPathogenic
Select item 58015	GRCh38/hg38 4p16.3-14(chr4:85149-38700366)x3	SOD3, SORCS2 +987 more	Copy number gain	See cases	GPathogenic
Select item 2579174	GRCh38/hg38 4p16.3-q12(chr4:85624-57073230)x3	LOC129992561, LOC129992562 +1409 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 2579173	GRCh38/hg38 4p16.3-13(chr4:2904667-42963232)x3	LOC129992261, LOC129992262 +962 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 2445987	GRCh38/hg38 4p15.33-14(chr4:11399082-38137335)	FGFBP1, LOC126806998 +393 more	Copy number loss	4p partial monosomy syndrome	GPathogenic
Select item 3128251	NM_015230.4(ARAP2):c.5103G>T (p.Gln1701His)	ARAP2 (Q1701H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2477957	NM_015230.4(ARAP2):c.4977G>T (p.Lys1659Asn)	ARAP2 (K1659N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3128250	NM_015230.4(ARAP2):c.4870C>G (p.Arg1624Gly)	ARAP2 (R1624G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2478028	NM_015230.4(ARAP2):c.4834G>T (p.Val1612Leu)	ARAP2 (V1612L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2538930	NM_015230.4(ARAP2):c.4801G>A (p.Val1601Met)	ARAP2 (V1601M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2612304	NM_015230.4(ARAP2):c.4585A>G (p.Met1529Val)	ARAP2 (M1529V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3128247	NM_015230.4(ARAP2):c.4577C>T (p.Thr1526Met)	ARAP2 (T1526M)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2331053	NM_015230.4(ARAP2):c.4538A>G (p.His1513Arg)	ARAP2 (H1513R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2346642	NM_015230.4(ARAP2):c.4522G>A (p.Ala1508Thr)	ARAP2 (A1508T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3128246	NM_015230.4(ARAP2):c.4498C>T (p.Pro1500Ser)	ARAP2 (P1500S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2291913	NM_015230.4(ARAP2):c.4475G>A (p.Arg1492His)	ARAP2 (R1492H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2654706	NM_015230.4(ARAP2):c.4422G>A (p.Val1474=)	ARAP2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2400664	NM_015230.4(ARAP2):c.4397G>A (p.Gly1466Glu)	ARAP2 (G1466E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2391369	NM_015230.4(ARAP2):c.4376G>A (p.Arg1459Gln)	ARAP2 (R1459Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2213394	NM_015230.4(ARAP2):c.4375C>T (p.Arg1459Trp)	ARAP2 (R1459W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2244744	NM_015230.4(ARAP2):c.4267A>G (p.Thr1423Ala)	ARAP2 (T1423A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2459746	NM_015230.4(ARAP2):c.4243G>A (p.Val1415Met)	ARAP2 (V1415M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3128245	NM_015230.4(ARAP2):c.4237C>G (p.Leu1413Val)	ARAP2 (L1413V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3128244	NM_015230.4(ARAP2):c.4123G>C (p.Ala1375Pro)	ARAP2 (A1375P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2552146	NM_015230.4(ARAP2):c.4103C>A (p.Pro1368His)	ARAP2 (P1368H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2353837	NM_015230.4(ARAP2):c.4075G>A (p.Asp1359Asn)	ARAP2 (D1359N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3128243	NM_015230.4(ARAP2):c.4058C>A (p.Ala1353Glu)	ARAP2 (A1353E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2552035	NM_015230.4(ARAP2):c.4036C>T (p.Arg1346Trp)	ARAP2 (R1346W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3128242	NM_015230.4(ARAP2):c.4016C>A (p.Pro1339His)	ARAP2 (P1339H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3128241	NM_015230.4(ARAP2):c.3782C>T (p.Ala1261Val)	ARAP2 (A1261V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2282156	NM_015230.4(ARAP2):c.3758G>C (p.Cys1253Ser)	ARAP2 (C1253S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2371488	NM_015230.4(ARAP2):c.3721G>A (p.Ala1241Thr)	ARAP2 (A1241T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2317825	NM_015230.4(ARAP2):c.3710G>A (p.Arg1237Gln)	ARAP2 (R1237Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2517948	NM_015230.4(ARAP2):c.3709C>G (p.Arg1237Gly)	ARAP2 (R1237G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2469310	NM_015230.4(ARAP2):c.3697C>T (p.Pro1233Ser)	ARAP2 (P1233S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2533958	NM_015230.4(ARAP2):c.3674A>G (p.Tyr1225Cys)	ARAP2 (Y1225C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2210442	NM_015230.4(ARAP2):c.3557C>T (p.Thr1186Met)	ARAP2 (T1186M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3128240	NM_015230.4(ARAP2):c.3538C>T (p.His1180Tyr)	ARAP2 (H1180Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2285134	NM_015230.4(ARAP2):c.3516C>A (p.Ser1172Arg)	ARAP2 (S1172R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2570499	NM_015230.4(ARAP2):c.3503A>C (p.Lys1168Thr)	ARAP2 (K1168T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3128238	NM_015230.4(ARAP2):c.3479G>A (p.Ser1160Asn)	ARAP2 (S1160N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2493527	NM_015230.4(ARAP2):c.3478A>C (p.Ser1160Arg)	ARAP2 (S1160R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2471307	NM_015230.4(ARAP2):c.3382G>T (p.Val1128Phe)	ARAP2 (V1128F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3128237	NM_015230.4(ARAP2):c.3356A>C (p.Gln1119Pro)	ARAP2 (Q1119P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3128236	NM_015230.4(ARAP2):c.3311A>G (p.His1104Arg)	ARAP2 (H1104R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2510503	NM_015230.4(ARAP2):c.3278A>G (p.His1093Arg)	ARAP2 (H1093R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3128235	NM_015230.4(ARAP2):c.3259G>A (p.Gly1087Arg)	ARAP2 (G1087R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2597660	NM_015230.4(ARAP2):c.3238G>A (p.Val1080Ile)	ARAP2 (V1080I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3128234	NM_015230.4(ARAP2):c.3049T>A (p.Leu1017Met)	ARAP2 (L1017M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2544486	NM_015230.4(ARAP2):c.2921A>G (p.Tyr974Cys)	ARAP2 (Y974C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2467153	NM_015230.4(ARAP2):c.2906T>C (p.Phe969Ser)	ARAP2 (F969S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2606075	NM_015230.4(ARAP2):c.2849A>G (p.Glu950Gly)	ARAP2 (E950G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2600319	NM_015230.4(ARAP2):c.2807A>G (p.Asn936Ser)	ARAP2 (N936S)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2467873	NM_015230.4(ARAP2):c.2801A>G (p.Tyr934Cys)	ARAP2 (Y934C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3027032	NM_015230.4(ARAP2):c.2698T>G (p.Tyr900Asp)	ARAP2 (Y900D)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3128233	NM_015230.4(ARAP2):c.2682C>A (p.Phe894Leu)	ARAP2 (F894L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2403646	NM_015230.4(ARAP2):c.2644G>A (p.Glu882Lys)	ARAP2 (E882K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2241183	NM_015230.4(ARAP2):c.2549C>G (p.Pro850Arg)	ARAP2 (P850R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2247048	NM_015230.4(ARAP2):c.2517G>T (p.Met839Ile)	ARAP2 (M839I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3128231	NM_015230.4(ARAP2):c.2499C>G (p.Phe833Leu)	ARAP2 (F833L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2362764	NM_015230.4(ARAP2):c.2430A>C (p.Glu810Asp)	ARAP2 (E810D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2395633	NM_015230.4(ARAP2):c.2404A>T (p.Thr802Ser)	ARAP2 (T802S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2331251	NM_015230.4(ARAP2):c.2353A>G (p.Lys785Glu)	ARAP2 (K785E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3128230	NM_015230.4(ARAP2):c.2282A>G (p.Lys761Arg)	ARAP2 (K761R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2352914	NM_015230.4(ARAP2):c.2204C>T (p.Ser735Phe)	ARAP2 (S735F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2542343	NM_015230.4(ARAP2):c.2081A>T (p.Asn694Ile)	ARAP2 (N694I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2459348	NM_015230.4(ARAP2):c.2080A>G (p.Asn694Asp)	ARAP2 (N694D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3128229	NM_015230.4(ARAP2):c.2050G>A (p.Asp684Asn)	ARAP2 (D684N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2508545	NM_015230.4(ARAP2):c.1796A>G (p.Tyr599Cys)	ARAP2 (Y599C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2239822	NM_015230.4(ARAP2):c.1775G>A (p.Gly592Glu)	ARAP2 (G592E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3128228	NM_015230.4(ARAP2):c.1702A>C (p.Ile568Leu)	ARAP2 (I568L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2370189	NM_015230.4(ARAP2):c.1639A>G (p.Thr547Ala)	ARAP2 (T547A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2299529	NM_015230.4(ARAP2):c.1624A>C (p.Lys542Gln)	ARAP2 (K542Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3128227	NM_015230.4(ARAP2):c.1550A>T (p.Asn517Ile)	ARAP2 (N517I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2277188	NM_015230.4(ARAP2):c.1544A>G (p.Tyr515Cys)	ARAP2 (Y515C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3128225	NM_015230.4(ARAP2):c.1506G>C (p.Lys502Asn)	ARAP2 (K502N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2333260	NM_015230.4(ARAP2):c.1410A>G (p.Ile470Met)	ARAP2 (I470M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2404839	NM_015230.4(ARAP2):c.1408A>G (p.Ile470Val)	ARAP2 (I470V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2654707	NM_015230.4(ARAP2):c.1392C>T (p.Ala464=)	ARAP2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2307209	NM_015230.4(ARAP2):c.1355C>T (p.Pro452Leu)	ARAP2 (P452L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2654708	NM_015230.4(ARAP2):c.1336G>A (p.Val446Ile)	ARAP2 (V446I)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 3128224	NM_015230.4(ARAP2):c.1294G>A (p.Ala432Thr)	ARAP2 (A432T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3128223	NM_015230.4(ARAP2):c.1274T>C (p.Leu425Ser)	ARAP2 (L425S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2528223	NM_015230.4(ARAP2):c.1001A>G (p.Tyr334Cys)	ARAP2 (Y334C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2225880	NM_015230.4(ARAP2):c.978G>T (p.Glu326Asp)	ARAP2 (E326D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2493388	NM_015230.4(ARAP2):c.856C>T (p.His286Tyr)	ARAP2 (H286Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2360920	NM_015230.4(ARAP2):c.811C>T (p.Arg271Cys)	ARAP2 (R271C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3128253	NM_015230.4(ARAP2):c.808A>G (p.Ser270Gly)	ARAP2 (S270G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2409841	NM_015230.4(ARAP2):c.805A>G (p.Arg269Gly)	ARAP2 (R269G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3128252	NM_015230.4(ARAP2):c.773A>G (p.Tyr258Cys)	ARAP2 (Y258C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2287150	NM_015230.4(ARAP2):c.703G>C (p.Gly235Arg)	ARAP2 (G235R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2393974	NM_015230.4(ARAP2):c.679A>T (p.Thr227Ser)	ARAP2 (T227S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2468275	NM_015230.4(ARAP2):c.611A>C (p.Glu204Ala)	ARAP2 (E204A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2213772	NM_015230.4(ARAP2):c.521A>G (p.Asp174Gly)	ARAP2 (D174G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2592736	NM_015230.4(ARAP2):c.506C>G (p.Ser169Cys)	ARAP2 (S169C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3128248	NM_015230.4(ARAP2):c.479A>G (p.His160Arg)	ARAP2 (H160R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2596391	NM_015230.4(ARAP2):c.460C>T (p.Pro154Ser)	ARAP2 (P154S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2591716	NM_015230.4(ARAP2):c.311T>C (p.Ile104Thr)	ARAP2 (I104T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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