DLGAP1[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 151983	GRCh38/hg38 18p11.32-11.31(chr18:118760-4470508)x1	ADCYAP1, CETN1 +120 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 148659	GRCh38/hg38 18p11.32-11.31(chr18:118760-4342182)x1	ADCYAP1, CETN1 +118 more	Copy number loss	See cases	GLikely pathogenic
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 146636	GRCh38/hg38 18p11.32-11.31(chr18:131500-4421014)x3	ADCYAP1, CETN1 +119 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 155594	GRCh38/hg38 18p11.32-11.31(chr18:136226-4802275)x1	ADCYAP1, CETN1 +120 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 153999	GRCh38/hg38 18p11.32-11.31(chr18:136226-4002983)x1	ADCYAP1, CETN1 +114 more	Copy number loss	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 150684	GRCh38/hg38 18p11.32-11.31(chr18:149089-5276567)x1	ADCYAP1, AKAIN1 +127 more	Copy number loss	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 58747	GRCh38/hg38 18p11.32-11.31(chr18:180230-4199943)x3	ADCYAP1, CETN1 +113 more	Copy number gain	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 985894	NM_004746.4(DLGAP1):c.2925_2929del (p.Arg976fs)	DLGAP1 (R660fs +6 more)	Deletion (frameshift variant)	Inborn genetic diseases	GUncertain significance
Select item 3082826	NM_004746.4(DLGAP1):c.2921A>G (p.Gln974Arg)	DLGAP1 (Q682R +11 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2648533	NM_004746.4(DLGAP1):c.2913C>T (p.Pro971=)	DLGAP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3272270	NM_004746.4(DLGAP1):c.2767G>A (p.Gly923Ser)	DLGAP1 (G621S +11 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3272268	NM_004746.4(DLGAP1):c.2714T>A (p.Leu905His)	DLGAP1 (L627H +15 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518642	NM_004746.4(DLGAP1):c.2657T>C (p.Met886Thr)	DLGAP1 (M570T +15 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3043709	NM_004746.4(DLGAP1):c.2613G>A (p.Ala871=)	DLGAP1	Single nucleotide variant (synonymous variant)	DLGAP1-related disorder	GLikely benign
Select item 3082825	NM_004746.4(DLGAP1):c.2597C>A (p.Thr866Asn)	DLGAP1 (T582N +15 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 151088	GRCh38/hg38 18p11.31(chr18:3512429-3589752)x3	DLGAP1, LOC125338468 +1 more	Copy number gain	See cases	GUncertain significance
Select item 2299370	NM_004746.4(DLGAP1):c.2473G>A (p.Glu825Lys)	DLGAP1 (E523K +15 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 788613	NM_004746.4(DLGAP1):c.2472C>T (p.Pro824=)	DLGAP1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3037438	NM_004746.4(DLGAP1):c.2447G>A (p.Arg816Gln)	DLGAP1 (R494Q +15 more)	Single nucleotide variant (missense variant)	DLGAP1-related disorder	GBenign
Select item 2292363	NM_004746.4(DLGAP1):c.2446C>T (p.Arg816Trp)	DLGAP1 (R500W +15 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3056064	NM_004746.4(DLGAP1):c.2389C>T (p.Leu797=)	DLGAP1	Single nucleotide variant (synonymous variant)	DLGAP1-related disorder	GBenign
Select item 2463471	NM_004746.4(DLGAP1):c.2370C>G (p.His790Gln)	DLGAP1 (H498Q +15 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3056276	NM_004746.4(DLGAP1):c.2349C>T (p.Ala783=)	DLGAP1	Single nucleotide variant (synonymous variant)	DLGAP1-related disorder	GBenign
Select item 3082824	NM_004746.4(DLGAP1):c.2276C>T (p.Thr759Met)	DLGAP1 (T457M +15 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082823	NM_004746.4(DLGAP1):c.2252G>T (p.Cys751Phe)	DLGAP1 (C429F +15 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 727983	NM_004746.4(DLGAP1):c.2247T>C (p.His749=)	DLGAP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2606653	NM_004746.4(DLGAP1):c.2201C>T (p.Ala734Val)	DLGAP1 (A440V +15 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520923	NM_004746.4(DLGAP1):c.2195G>A (p.Arg732His)	DLGAP1 (R410H +15 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082822	NM_004746.4(DLGAP1):c.2176A>T (p.Met726Leu)	DLGAP1 (M404L +15 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246848	NM_004746.4(DLGAP1):c.2152G>C (p.Glu718Gln)	DLGAP1 (E402Q +15 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376409	NM_004746.4(DLGAP1):c.2147C>T (p.Ser716Phe)	DLGAP1 (S394F +15 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 790190	NM_004746.4(DLGAP1):c.1977T>C (p.Ala659=)	DLGAP1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2335520	NM_004746.4(DLGAP1):c.1907C>T (p.Thr636Met)	DLGAP1 (T320M +15 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1292003	NM_004746.4(DLGAP1):c.1872C>T (p.Thr624=)	DLGAP1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2596119	NM_004746.4(DLGAP1):c.1724G>A (p.Gly575Asp)	DLGAP1 (G273D +15 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3056726	NM_004746.4(DLGAP1):c.1590G>A (p.Thr530=)	DLGAP1	Single nucleotide variant (synonymous variant)	DLGAP1-related disorder	GBenign
Select item 3060604	NM_004746.4(DLGAP1):c.1551G>A (p.Pro517=)	DLGAP1	Single nucleotide variant (synonymous variant)	DLGAP1-related disorder	GBenign
Select item 3055806	NM_004746.4(DLGAP1):c.1548G>A (p.Pro516=)	DLGAP1	Single nucleotide variant (synonymous variant)	DLGAP1-related disorder	GLikely benign
Select item 3052453	NM_004746.4(DLGAP1):c.1488G>A (p.Arg496=)	DLGAP1	Single nucleotide variant (synonymous variant)	DLGAP1-related disorder	GLikely benign
Select item 2241429	NM_004746.4(DLGAP1):c.1486C>T (p.Arg496Trp)	DLGAP1 (R208W +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3047198	NM_004746.4(DLGAP1):c.1434G>T (p.Ala478=)	DLGAP1	Single nucleotide variant (synonymous variant)	DLGAP1-related disorder	GLikely benign
Select item 3054756	NM_004746.4(DLGAP1):c.1392C>T (p.Cys464=)	DLGAP1	Single nucleotide variant (synonymous variant)	DLGAP1-related disorder	GLikely benign
Select item 3033863	NM_004746.4(DLGAP1):c.1383G>A (p.Glu461=)	DLGAP1	Single nucleotide variant (synonymous variant)	DLGAP1-related disorder	GLikely benign
Select item 2270964	NM_004746.4(DLGAP1):c.1381G>A (p.Glu461Lys)	DLGAP1 (E205K +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3272266	NM_004746.4(DLGAP1):c.1380C>G (p.Phe460Leu)	DLGAP1 (F210L +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3039311	NM_004746.4(DLGAP1):c.1351-3C>T	DLGAP1	Single nucleotide variant (intron variant)	DLGAP1-related disorder	GLikely benign
Select item 2607601	NM_004746.4(DLGAP1):c.1330G>T (p.Ala444Ser)	DLGAP1 (A142S +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383715	NM_004746.4(DLGAP1):c.1094C>T (p.Pro365Leu)	DLGAP1 (P63L +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3060984	NM_004746.4(DLGAP1):c.1083G>C (p.Thr361=)	DLGAP1	Single nucleotide variant (synonymous variant)	DLGAP1-related disorder	GBenign
Select item 3043779	NM_004746.4(DLGAP1):c.957+4875G>C	DLGAP1	Single nucleotide variant (5 prime UTR variant +1 more)	DLGAP1-related disorder	GBenign
Select item 3034969	NM_004746.4(DLGAP1):c.957+4508T>C	DLGAP1	Single nucleotide variant (intron variant)	DLGAP1-related disorder	GBenign
Select item 3033553	NM_004746.4(DLGAP1):c.957+4506C>T	DLGAP1	Single nucleotide variant (intron variant)	DLGAP1-related disorder	GLikely benign
Select item 3038427	NM_004746.4(DLGAP1):c.957+4405C>G	DLGAP1	Single nucleotide variant (5 prime UTR variant +1 more)	DLGAP1-related disorder	GLikely benign
Select item 2376758	NM_004746.4(DLGAP1):c.905C>T (p.Ala302Val)	DLGAP1, DLGAP1-AS3 (A302V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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