ARHGAP28[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58716	GRCh38/hg38 18p11.32-11.21(chr18:10001-15380684)x3	ADCYAP1, AFG3L2 +379 more	Copy number gain	See cases	GPathogenic
Select item 152926	GRCh38/hg38 18p11.32-11.21(chr18:14316-14206225)x3	ADCYAP1, AFG3L2 +373 more	Copy number gain	See cases	GPathogenic
Select item 153128	GRCh38/hg38 18p11.32-11.21(chr18:48782-14978076)x1	ADCYAP1, AFG3L2 +378 more	Copy number loss	See cases	GPathogenic
Select item 59612	GRCh38/hg38 18p11.32-11.31(chr18:53344-7029134)x1	ADCYAP1, AKAIN1 +161 more	Copy number loss	See cases	GPathogenic
Select item 58720	GRCh38/hg38 18p11.32-q11.1(chr18:53345-20948503)x3	LINC00668, LINC01254 +379 more	Copy number gain	See cases	GPathogenic
Select item 58718	GRCh38/hg38 18p11.32-q23(chr18:53345-80209986)x3	ABHD3, ACAA2 +1646 more	Copy number gain	See cases	GPathogenic
Select item 152927	GRCh38/hg38 18p11.32-11.31(chr18:85432-7094700)x1	ZBTB14, ADCYAP1 +162 more	Copy number loss	See cases	GPathogenic
Select item 59614	GRCh38/hg38 18p11.32-11.21(chr18:112259-14122522)x1	ADCYAP1, AFG3L2 +368 more	Copy number loss	See cases	GPathogenic
Select item 59613	GRCh38/hg38 18p11.32-11.22(chr18:112259-9135777)x1	ADCYAP1, AKAIN1 +195 more	Copy number loss	See cases	GPathogenic
Select item 155127	GRCh38/hg38 18p11.32-11.21(chr18:118760-12642431)x3	LOC129390958, LOC130062070 +300 more	Copy number gain	See cases	GUncertain significance
Select item 152548	GRCh38/hg38 18p11.32-11.21(chr18:118760-15024003)x1	NDUFV2-AS1, PIEZO2 +374 more	Copy number loss	See cases	GPathogenic
Select item 150126	GRCh38/hg38 18p11.32-11.22(chr18:118760-8999132)x1	ADCYAP1, AKAIN1 +184 more	Copy number loss	See cases	GPathogenic
Select item 149674	GRCh38/hg38 18p11.32-q23(chr18:118760-80254946)x3	LOC126862711, LOC126862712 +1643 more	Copy number gain	See cases	GPathogenic
Select item 148383	GRCh38/hg38 18p11.32-11.21(chr18:118760-14089410)x1	LOC130062167, LOC130062168 +367 more	Copy number loss	See cases	GPathogenic
Select item 148382	GRCh38/hg38 18p11.32-11.21(chr18:118760-14089410)x4	LOC125338465, LOC125338466 +367 more	Copy number gain	See cases	GPathogenic
Select item 59910	GRCh38/hg38 18p11.32-11.22(chr18:131700-10536767)x1	ADCYAP1, AKAIN1 +237 more	Copy number loss	See cases	GPathogenic
Select item 59617	GRCh38/hg38 18p11.32-11.21(chr18:131700-14226905)x1	LOC130062104, LOC130062105 +368 more	Copy number loss	See cases	GPathogenic
Select item 59615	GRCh38/hg38 18p11.32-11.21(chr18:131700-15121055)x1	ADCYAP1, AFG3L2 +374 more	Copy number loss	See cases	GPathogenic
Select item 149042	GRCh38/hg38 18p11.32-11.21(chr18:133157-14089410)x1	ADCYAP1, AFG3L2 +367 more	Copy number loss	See cases	GPathogenic
Select item 155410	GRCh38/hg38 18p11.32-11.21(chr18:136226-14337134)x3	LOC130062144, LOC130062145 +368 more	Copy number gain	See cases	GPathogenic
Select item 155367	GRCh38/hg38 18p11.32-11.21(chr18:136226-15198991)x4	ADCYAP1, AFG3L2 +374 more	Copy number gain	See cases	GPathogenic
Select item 155151	GRCh38/hg38 18p11.32-q23(chr18:136226-80256240)x3	LOC130062667, LOC130062668 +1643 more	Copy number gain	See cases	GPathogenic
Select item 151749	GRCh38/hg38 18p11.32-11.21(chr18:136226-15175006)	ADCYAP1, AFG3L2 +374 more	Copy number gain	See cases	GPathogenic
Select item 154106	GRCh38/hg38 18p11.32-q23(chr18:136227-80256240)x3	LOC130062278, LOC130062279 +1643 more	Copy number gain	See cases	GPathogenic
Select item 160884	GRCh38/hg38 18p11.32-11.21(chr18:148963-14081888)x1	ADCYAP1, AFG3L2 +367 more	Copy number loss	See cases	GPathogenic
Select item 160810	GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3	LOC126862732, LOC126862733 +1643 more	Copy number gain	See cases	GPathogenic
Select item 148011	GRCh38/hg38 18p11.32-11.21(chr18:148963-10900517)x1	ADCYAP1, AKAIN1 +245 more	Copy number loss	See cases	GPathogenic
Select item 146198	GRCh38/hg38 18p11.32-11.21(chr18:148963-14081888)x4	ADCYAP1, AFG3L2 +367 more	Copy number gain	See cases	GPathogenic
Select item 59916	GRCh38/hg38 18p11.32-11.21(chr18:148963-13068104)x1	ADCYAP1, AFG3L2 +327 more	Copy number loss	See cases	GPathogenic
Select item 59913	GRCh38/hg38 18p11.32-11.21(chr18:148963-13530126)x1	ADCYAP1, AFG3L2 +344 more	Copy number loss	See cases	GPathogenic
Select item 58729	GRCh38/hg38 18p11.32-q23(chr18:148963-80244381)x3	ANKRD12, ANKRD29 +1642 more	Copy number gain	See cases	GPathogenic
Select item 58728	GRCh38/hg38 18p11.32-q11.1(chr18:148963-21040153)x3	SLC35G4, SMCHD1 +375 more	Copy number gain	See cases	GPathogenic
Select item 57340	GRCh38/hg38 18p11.32-11.21(chr18:148963-13715860)x1	LOC129390955, LOC129390956 +358 more	Copy number loss	See cases	GPathogenic
Select item 34384	GRCh38/hg38 18p11.32-11.21(chr18:148963-14081888)x1	ADCYAP1, AFG3L2 +367 more	Copy number loss	See cases	GPathogenic
Select item 33085	GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3	SERPINB12, SERPINB13 +1643 more	Copy number gain	See cases	GPathogenic
Select item 150559	GRCh38/hg38 18p11.32-q23(chr18:149089-80254936)x3	LOC125368553, LOC125368554 +1643 more	Copy number gain	See cases	GPathogenic
Select item 144654	GRCh38/hg38 18p11.32-q23(chr18:149089-80234391)x3	LOC130062355, LOC130062356 +1642 more	Copy number gain	See cases	GPathogenic
Select item 2579191	GRCh38/hg38 18p11.32-11.21(chr18:158286-14124574)x1	ADCYAP1, AFG3L2 +367 more	Copy number loss	Deletion of short arm of chromosome 18	GPathogenic
Select item 147704	GRCh38/hg38 18p11.32-11.22(chr18:180229-10762632)x1	ADCYAP1, AKAIN1 +241 more	Copy number loss	See cases	GPathogenic
Select item 154072	GRCh38/hg38 18p11.32-11.21(chr18:958974-11954935)x1	AKAIN1, ANKRD12 +246 more	Copy number loss	See cases	GPathogenic
Select item 58749	GRCh38/hg38 18p11.32-11.21(chr18:1919684-15325188)x3	LOC130062147, LOC130062148 +339 more	Copy number gain	See cases	GPathogenic
Select item 147396	GRCh38/hg38 18p11.32-11.21(chr18:2425507-11904118)x3	AKAIN1, ANKRD12 +230 more	Copy number gain	See cases	GPathogenic
Select item 150598	GRCh38/hg38 18p11.31-11.23(chr18:6299210-7244644)x3	ARHGAP28, ARHGAP28-AS1 +14 more	Copy number gain	See cases	GUncertain significance
Select item 2648540	NM_001366230.1(ARHGAP28):c.177C>G (p.Leu59=)	ARHGAP28	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2411842	NM_001366230.1(ARHGAP28):c.565C>T (p.His189Tyr)	ARHGAP28 (H30Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598439	NM_001366230.1(ARHGAP28):c.580G>T (p.Asp194Tyr)	ARHGAP28 (D194Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128706	NM_001366230.1(ARHGAP28):c.601G>A (p.Glu201Lys)	ARHGAP28 (E42K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128709	NM_001366230.1(ARHGAP28):c.780G>C (p.Glu260Asp)	ARHGAP28 (E101D +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2471305	NM_001366230.1(ARHGAP28):c.803C>T (p.Ala268Val)	ARHGAP28 (A109V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282256	NM_001366230.1(ARHGAP28):c.829A>G (p.Lys277Glu)	ARHGAP28 (K225E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593835	NM_001366230.1(ARHGAP28):c.830A>G (p.Lys277Arg)	ARHGAP28 (K118R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3311471	NM_001366230.1(ARHGAP28):c.847G>A (p.Ala283Thr)	ARHGAP28 (A124T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594915	NM_001366230.1(ARHGAP28):c.885G>A (p.Met295Ile)	ARHGAP28 (M243I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292633	NM_001366230.1(ARHGAP28):c.1007C>T (p.Ser336Phe)	ARHGAP28 (S284F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315090	NM_001366230.1(ARHGAP28):c.1047T>G (p.Ile349Met)	ARHGAP28 (I297M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204697	NM_001366230.1(ARHGAP28):c.1108G>C (p.Val370Leu)	ARHGAP28 (V370L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486973	NM_001366230.1(ARHGAP28):c.1168C>G (p.Arg390Gly)	ARHGAP28 (R338G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 59734	GRCh38/hg38 18p11.31-11.23(chr18:6881457-8124873)x3	ARHGAP28, LAMA1 +12 more	Copy number gain	See cases	GBenign
Select item 3128710	NM_001366230.1(ARHGAP28):c.1328A>G (p.Asp443Gly)	ARHGAP28 (D284G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297147	NM_001366230.1(ARHGAP28):c.1468A>G (p.Lys490Glu)	ARHGAP28 (K331E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128704	NM_001366230.1(ARHGAP28):c.1505C>T (p.Ala502Val)	ARHGAP28 (A343V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241331	NM_001366230.1(ARHGAP28):c.1523G>C (p.Arg508Thr)	ARHGAP28 (R349T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292787	NM_001366230.1(ARHGAP28):c.1607C>A (p.Ser536Tyr)	ARHGAP28 (S484Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345393	NM_001366230.1(ARHGAP28):c.1645A>G (p.Lys549Glu)	ARHGAP28 (K497E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128705	NM_001366230.1(ARHGAP28):c.1662A>C (p.Glu554Asp)	ARHGAP28 (E395D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2397082	NM_001366230.1(ARHGAP28):c.1679A>G (p.Asn560Ser)	ARHGAP28 (N401S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3311460	NM_001366230.1(ARHGAP28):c.1699C>T (p.Arg567Cys)	ARHGAP28 (R515C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3052976	NM_001366230.1(ARHGAP28):c.1734+46C>G	ARHGAP28	Single nucleotide variant (intron variant)	ARHGAP28-related disorder	GLikely benign
Select item 2264759	NM_001366230.1(ARHGAP28):c.1781C>T (p.Thr594Met)	ARHGAP28 (T435M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525077	NM_001366230.1(ARHGAP28):c.1839C>T (p.Leu613=)	ARHGAP28	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3128707	NM_001366230.1(ARHGAP28):c.1873G>A (p.Val625Ile)	ARHGAP28 (V625I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303591	NM_001366230.1(ARHGAP28):c.1892C>T (p.Ser631Leu)	ARHGAP28 (S579L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393915	NM_001366230.1(ARHGAP28):c.1901G>A (p.Arg634Gln)	ARHGAP28 (R582Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 148553	GRCh38/hg38 18p11.31-11.23(chr18:6894970-7577151)x3	ARHGAP28, LAMA1 +9 more	Copy number gain	See cases	GUncertain significance
Select item 2222473	NM_001366230.1(ARHGAP28):c.1916C>T (p.Pro639Leu)	ARHGAP28 (P480L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128708	NM_001366230.1(ARHGAP28):c.2018A>G (p.Gln673Arg)	ARHGAP28 (Q673R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 768928	NM_001366230.1(ARHGAP28):c.2048G>A (p.Cys683Tyr)	ARHGAP28 (C683Y +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2570182	NM_001366230.1(ARHGAP28):c.2053A>G (p.Lys685Glu)	ARHGAP28 (K685E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391345	NM_001366230.1(ARHGAP28):c.2102A>G (p.His701Arg)	ARHGAP28 (H542R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532768	NM_001366230.1(ARHGAP28):c.2120C>T (p.Ala707Val)	ARHGAP28 (A707V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3311482	NM_001366230.1(ARHGAP28):c.2170A>G (p.Lys724Glu)	ARHGAP28 (K565E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 151490	GRCh38/hg38 18p11.31-11.23(chr18:6913063-7354636)x3	ARHGAP28, LAMA1 +6 more	Copy number gain	See cases	GUncertain significance
Select item 154424	GRCh38/hg38 18p11.31-11.22(chr18:6913068-9146867)x3	ANKRD12, ARHGAP28 +47 more	Copy number gain	See cases	GUncertain significance
Select item 3063564	GRCh37/hg19 18p11.32-11.23(chr18:136227-8359829)x1	ADCYAP1, AKAIN1 +28 more	Copy number loss	not specified	GPathogenic
Select item 3063563	GRCh37/hg19 18p11.32-11.21(chr18:136226-14352648)x1	ADCYAP1, AFG3L2 +63 more	Copy number loss	not specified	GPathogenic
Select item 3063558	GRCh37/hg19 18p11.32-11.21(chr18:136226-15161581)x1	ADCYAP1, AFG3L2 +65 more	Copy number loss	not specified	GPathogenic
Select item 3063553	GRCh37/hg19 18p11.31-11.23(chr18:6737164-7388708)x3	ARHGAP28, LAMA1 +1 more	Copy number gain	not specified	GUncertain significance
Select item 3063542	GRCh37/hg19 18p11.31-11.21(chr18:2922899-15198990)x3	AFG3L2, AKAIN1 +51 more	Copy number gain	not specified	GPathogenic
Select item 3063541	GRCh37/hg19 18p11.32-11.22(chr18:136226-10365982)x1	ADCYAP1, AKAIN1 +38 more	Copy number loss	not specified	GPathogenic
Select item 3063540	GRCh37/hg19 18p11.32-11.21(chr18:136226-14455323)x3	ADCYAP1, AFG3L2 +63 more	Copy number gain	not specified	GPathogenic
Select item 3063537	GRCh37/hg19 18p11.32-11.21(chr18:136226-14148354)x3	ADCYAP1, AFG3L2 +63 more	Copy number gain	not specified	GPathogenic
Select item 3062373	GRCh37/hg19 18p11.32-11.21(chr18:136227-15157836)x3	ADCYAP1, AFG3L2 +65 more	Copy number gain	not specified	GPathogenic
Select item 2685612	GRCh37/hg19 18p11.32-11.22(chr18:136227-8513569)x1	ADCYAP1, AKAIN1 +28 more	Copy number loss	not provided	GPathogenic
Select item 2685611	GRCh37/hg19 18p11.32-11.21(chr18:136227-14585159)x1	ADCYAP1, AFG3L2 +64 more	Copy number loss	not provided	GPathogenic
Select item 2685058	GRCh37/hg19 18p11.32-q11.1(chr18:136227-18521285)x4	ADCYAP1, AFG3L2 +65 more	Copy number gain	not provided	GPathogenic
Select item 2684863	GRCh37/hg19 18p11.31-11.23(chr18:5689219-7964689)x3	ARHGAP28, L3MBTL4 +4 more	Copy number gain	not provided	GUncertain significance
Select item 2446821	GRCh37/hg19 18p11.32-11.1(chr18:1-15400035)	ADCYAP1, AFG3L2 +65 more	Copy number loss	Deletion of short arm of chromosome 18	GPathogenic
Select item 1809068	GRCh37/hg19 18p11.31(chr18:3824312-6983454)x1	AKAIN1, ARHGAP28 +6 more	Copy number loss	not provided	GUncertain significance
Select item 1807981	GRCh37/hg19 18p11.31(chr18:6719041-7046603)x1	ARHGAP28, LAMA1	Copy number loss	not provided	GUncertain significance
Select item 1807830	GRCh37/hg19 18p11.32-11.23(chr18:136227-7218594)x1	ADCYAP1, AKAIN1 +26 more	Copy number loss	not provided	GPathogenic

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