ClinVar for Gene (Select 201477) - ClinVar

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Links from Gene

Items: 84

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3346866	NM_004746.4(DLGAP1):c.205A>C (p.Thr69Pro)	DLGAP1, DLGAP1-AS3 (T69P)	Single nucleotide variant (missense variant)	DLGAP1-related disorder	GUncertain significance
Select item 3346702	NM_004746.4(DLGAP1):c.806T>A (p.Leu269Gln)	DLGAP1, DLGAP1-AS3 (L269Q)	Single nucleotide variant (missense variant)	DLGAP1-related disorder	GUncertain significance
Select item 3272271	NM_004746.4(DLGAP1):c.593C>T (p.Ser198Phe)	DLGAP1, DLGAP1-AS3 (S198F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3272269	NM_004746.4(DLGAP1):c.22C>T (p.Arg8Cys)	DLGAP1, DLGAP1-AS3 (R8C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3272267	NM_004746.4(DLGAP1):c.368A>T (p.Tyr123Phe)	DLGAP1, DLGAP1-AS3 (Y123F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3272265	NM_004746.4(DLGAP1):c.815C>A (p.Pro272Gln)	DLGAP1, DLGAP1-AS3 (P272Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082828	NM_004746.4(DLGAP1):c.82G>A (p.Asp28Asn)	DLGAP1, DLGAP1-AS3 (D28N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082827	NM_004746.4(DLGAP1):c.560G>A (p.Arg187Gln)	DLGAP1, DLGAP1-AS3 (R187Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082821	NM_004746.4(DLGAP1):c.14C>T (p.Ser5Leu)	DLGAP1, DLGAP1-AS3 (S5L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3054401	NM_004746.4(DLGAP1):c.406G>A (p.Gly136Ser)	DLGAP1, DLGAP1-AS3 (G136S)	Single nucleotide variant (missense variant)	DLGAP1-related disorder	GLikely benign
Select item 3053483	NM_004746.4(DLGAP1):c.57C>A (p.Ala19=)	DLGAP1, DLGAP1-AS3	Single nucleotide variant (synonymous variant)	DLGAP1-related disorder	GLikely benign
Select item 3051867	NM_004746.4(DLGAP1):c.421C>T (p.Leu141=)	DLGAP1, DLGAP1-AS3	Single nucleotide variant (synonymous variant)	DLGAP1-related disorder	GLikely benign
Select item 3038851	NM_004746.4(DLGAP1):c.345C>T (p.Arg115=)	DLGAP1, DLGAP1-AS3	Single nucleotide variant (synonymous variant)	DLGAP1-related disorder	GLikely benign
Select item 3033733	NM_004746.4(DLGAP1):c.860G>A (p.Arg287Gln)	DLGAP1, DLGAP1-AS3 (R287Q)	Single nucleotide variant (missense variant)	DLGAP1-related disorder	GLikely benign
Select item 2648534	NM_004746.4(DLGAP1):c.567G>A (p.Ala189=)	DLGAP1, DLGAP1-AS3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2612014	NM_004746.4(DLGAP1):c.536G>A (p.Gly179Asp)	DLGAP1, DLGAP1-AS3 (G179D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608774	NM_004746.4(DLGAP1):c.169T>C (p.Cys57Arg)	DLGAP1, DLGAP1-AS3 (C57R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588285	NM_004746.4(DLGAP1):c.85C>T (p.Arg29Cys)	DLGAP1, DLGAP1-AS3 (R29C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2536351	NM_004746.4(DLGAP1):c.148C>T (p.Arg50Trp)	DLGAP1, DLGAP1-AS3 (R50W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515530	NM_004746.4(DLGAP1):c.533A>G (p.Tyr178Cys)	DLGAP1, DLGAP1-AS3 (Y178C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510783	NM_004746.4(DLGAP1):c.353A>G (p.Tyr118Cys)	DLGAP1, DLGAP1-AS3 (Y118C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2429870	NM_004746.4(DLGAP1):c.733G>T (p.Glu245Ter)	DLGAP1-AS3, DLGAP1 (E245*)	Single nucleotide variant (nonsense)	Developmental disorder	GUncertain significance
Select item 2381048	NM_004746.4(DLGAP1):c.518C>T (p.Ala173Val)	DLGAP1, DLGAP1-AS3 (A173V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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
Select item 2326728	NM_004746.4(DLGAP1):c.315C>G (p.Asp105Glu)	DLGAP1, DLGAP1-AS3 (D105E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314297	NM_004746.4(DLGAP1):c.418C>G (p.His140Asp)	DLGAP1, DLGAP1-AS3 (H140D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301491	NM_004746.4(DLGAP1):c.656C>T (p.Ser219Leu)	DLGAP1, DLGAP1-AS3 (S219L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293221	NM_004746.4(DLGAP1):c.628G>A (p.Gly210Ser)	DLGAP1, DLGAP1-AS3 (G210S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276144	NM_004746.4(DLGAP1):c.781A>G (p.Thr261Ala)	DLGAP1, DLGAP1-AS3 (T261A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 777265	NM_004746.4(DLGAP1):c.888G>A (p.Ser296=)	DLGAP1, DLGAP1-AS3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 771503	NM_004746.4(DLGAP1):c.852C>A (p.Thr284=)	DLGAP1, DLGAP1-AS3	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 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 155127	GRCh38/hg38 18p11.32-11.21(chr18:118760-12642431)x3	LOC129390958, LOC130062070 +300 more	Copy number gain	See cases	GUncertain significance
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 154106	GRCh38/hg38 18p11.32-q23(chr18:136227-80256240)x3	LOC130062278, LOC130062279 +1643 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 153999	GRCh38/hg38 18p11.32-11.31(chr18:136226-4002983)x1	ADCYAP1, CETN1 +114 more	Copy number loss	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 152927	GRCh38/hg38 18p11.32-11.31(chr18:85432-7094700)x1	ZBTB14, ADCYAP1 +162 more	Copy number loss	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 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 151749	GRCh38/hg38 18p11.32-11.21(chr18:136226-15175006)	ADCYAP1, AFG3L2 +374 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 150597	GRCh38/hg38 18p11.32-11.31(chr18:118760-6275718)x1	ADCYAP1, AKAIN1 +145 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 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 149042	GRCh38/hg38 18p11.32-11.21(chr18:133157-14089410)x1	ADCYAP1, AFG3L2 +367 more	Copy number loss	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 148011	GRCh38/hg38 18p11.32-11.21(chr18:148963-10900517)x1	ADCYAP1, AKAIN1 +245 more	Copy number loss	See cases	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 147396	GRCh38/hg38 18p11.32-11.21(chr18:2425507-11904118)x3	AKAIN1, ANKRD12 +230 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 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 144654	GRCh38/hg38 18p11.32-q23(chr18:149089-80234391)x3	LOC130062355, LOC130062356 +1642 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 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 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 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 59612	GRCh38/hg38 18p11.32-11.31(chr18:53344-7029134)x1	ADCYAP1, AKAIN1 +161 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 58747	GRCh38/hg38 18p11.32-11.31(chr18:180230-4199943)x3	ADCYAP1, CETN1 +113 more	Copy number gain	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 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 58716	GRCh38/hg38 18p11.32-11.21(chr18:10001-15380684)x3	ADCYAP1, AFG3L2 +379 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

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Links from Gene

Items: 84