EPB41L3[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 150597	GRCh38/hg38 18p11.32-11.31(chr18:118760-6275718)x1	ADCYAP1, AKAIN1 +145 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 146582	GRCh38/hg38 18p11.32-11.31(chr18:148963-6086668)x1	ADCYAP1, AKAIN1 +143 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 154991	GRCh38/hg38 18p11.32-11.31(chr18:149089-5458472)x3	ADCYAP1, AKAIN1 +131 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 59917	GRCh38/hg38 18p11.32-11.31(chr18:2547398-6694867)x1	LOC130062117, LOC130062118 +109 more	Copy number loss	See cases	GPathogenic
Select item 149259	GRCh38/hg38 18p11.31(chr18:5024279-5670658)x1	AKAIN1, EPB41L3 +10 more	Copy number loss	See cases	GUncertain significance
Select item 2264303	NM_012307.5(EPB41L3):c.3201G>A (p.Met1067Ile)	EPB41L3 (M730I +21 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3089411	NM_012307.5(EPB41L3):c.3193C>G (p.Pro1065Ala)	EPB41L3 (P734A +21 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3089410	NM_012307.5(EPB41L3):c.3193C>A (p.Pro1065Thr)	EPB41L3 (P1065T +21 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3275765	NM_012307.5(EPB41L3):c.3086G>A (p.Gly1029Asp)	EPB41L3 (G1047D +15 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2548015	NM_012307.5(EPB41L3):c.3026T>A (p.Ile1009Asn)	EPB41L3, LOC126862683 (I1009N +15 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263194	NM_012307.5(EPB41L3):c.3023C>G (p.Thr1008Arg)	EPB41L3, LOC126862683 (T1026R +15 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 763483	NM_012307.5(EPB41L3):c.3003C>A (p.Gly1001=)	EPB41L3, LOC126862683	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2474313	NM_012307.5(EPB41L3):c.2996A>C (p.Glu999Ala)	EPB41L3, LOC126862683 (E703A +15 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398555	NM_012307.5(EPB41L3):c.2977G>A (p.Asp993Asn)	EPB41L3, LOC126862683 (D703N +15 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3275766	NM_012307.5(EPB41L3):c.2941G>A (p.Glu981Lys)	EPB41L3, LOC126862683 (E662K +15 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316429	NM_012307.5(EPB41L3):c.2834A>G (p.His945Arg)	EPB41L3 (H637R +15 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089409	NM_012307.5(EPB41L3):c.2825A>G (p.Gln942Arg)	EPB41L3 (Q605R +15 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205415	NM_012307.5(EPB41L3):c.2806A>G (p.Ile936Val)	EPB41L3 (I658V +15 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 787999	NM_012307.5(EPB41L3):c.2770C>T (p.Arg924Cys)	EPB41L3 (R593C +15 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2386159	NM_012307.5(EPB41L3):c.2759C>T (p.Ala920Val)	EPB41L3 (A601V +15 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341349	NM_012307.5(EPB41L3):c.2759C>A (p.Ala920Asp)	EPB41L3 (A589D +15 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089407	NM_012307.5(EPB41L3):c.2738T>C (p.Val913Ala)	EPB41L3 (V623A +15 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508623	NM_012307.5(EPB41L3):c.2717G>A (p.Gly906Glu)	EPB41L3 (G628E +15 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356486	NM_012307.5(EPB41L3):c.2693C>T (p.Thr898Met)	EPB41L3 (T561M +15 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3275769	NM_012307.5(EPB41L3):c.2653G>T (p.Ala885Ser)	EPB41L3 (A548S +15 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517638	NM_012307.5(EPB41L3):c.2621C>T (p.Ala874Val)	EPB41L3 (A537V +15 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2277035	NM_012307.5(EPB41L3):c.2612C>T (p.Ser871Phe)	EPB41L3 (S534F +15 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089406	NM_012307.5(EPB41L3):c.2602G>A (p.Gly868Arg)	EPB41L3 (G549R +15 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 777266	NM_012307.5(EPB41L3):c.2575G>C (p.Glu859Gln)	EPB41L3 (E859Q +15 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3275760	NM_012307.5(EPB41L3):c.2566G>A (p.Val856Met)	EPB41L3 (V566M +15 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 788000	NM_012307.5(EPB41L3):c.2494T>G (p.Ser832Ala)	EPB41L3 (S501A +15 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2280486	NM_012307.5(EPB41L3):c.2492A>G (p.Glu831Gly)	EPB41L3 (E494G +15 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3275762	NM_012307.5(EPB41L3):c.2476A>G (p.Met826Val)	EPB41L3 (M518V +15 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366993	NM_012307.5(EPB41L3):c.2443G>T (p.Val815Phe)	EPB41L3 (V519F +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2551099	NM_012307.5(EPB41L3):c.2403A>T (p.Leu801Phe)	EPB41L3 (L493F +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2551983	NM_012307.5(EPB41L3):c.2396T>C (p.Phe799Ser)	EPB41L3 (F521S +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2397766	NM_012307.5(EPB41L3):c.2341C>T (p.Pro781Ser)	EPB41L3 (P473S +9 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3275763	NM_012307.5(EPB41L3):c.2306G>A (p.Arg769Lys)	EPB41L3 (R473K +9 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3275764	NM_012307.5(EPB41L3):c.2302G>A (p.Ala768Thr)	EPB41L3 (A472T +9 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 788373	NM_012307.5(EPB41L3):c.2277T>G (p.Leu759=)	EPB41L3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2240148	NM_012307.5(EPB41L3):c.2267A>C (p.Glu756Ala)	EPB41L3 (E448A +9 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221917	NM_012307.5(EPB41L3):c.2239A>G (p.Thr747Ala)	EPB41L3 (T439A +9 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3275761	NM_012307.5(EPB41L3):c.2211G>C (p.Glu737Asp)	EPB41L3 (E429D +9 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2228271	NM_012307.5(EPB41L3):c.2207G>A (p.Ser736Asn)	EPB41L3 (S428N +9 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344996	NM_012307.5(EPB41L3):c.2092G>A (p.Ala698Thr)	EPB41L3 (A698T +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2612541	NM_012307.5(EPB41L3):c.2045C>T (p.Pro682Leu)	EPB41L3 (P682L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 788001	NM_012307.5(EPB41L3):c.2039A>G (p.Asn680Ser)	EPB41L3 (N680S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2600791	NM_012307.5(EPB41L3):c.2012C>T (p.Ala671Val)	EPB41L3 (A671V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2399583	NM_012307.5(EPB41L3):c.1957G>T (p.Ala653Ser)	EPB41L3 (A653S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2235577	NM_012307.5(EPB41L3):c.1901C>T (p.Pro634Leu)	EPB41L3 (P634L +1 more)	Single nucleotide variant (intron variant +1 more)	not specified	GUncertain significance
Select item 3089403	NM_012307.5(EPB41L3):c.1882C>T (p.Arg628Cys)	EPB41L3 (R628C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2251773	NM_012307.5(EPB41L3):c.1881C>G (p.Ile627Met)	EPB41L3 (I645M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2548880	NM_012307.5(EPB41L3):c.1877C>T (p.Pro626Leu)	EPB41L3 (P644L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2549155	NM_012307.5(EPB41L3):c.1829A>C (p.Asn610Thr)	EPB41L3 (N610T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3275767	NM_012307.5(EPB41L3):c.1823T>G (p.Phe608Cys)	EPB41L3 (F608C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2307977	NM_012307.5(EPB41L3):c.1802A>G (p.Asp601Gly)	EPB41L3 (D601G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 759001	NM_012307.5(EPB41L3):c.1797C>T (p.Leu599=)	EPB41L3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2617549	NM_012307.5(EPB41L3):c.1675G>C (p.Asp559His)	EPB41L3 (D559H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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