LOC126862685[gene] - ClinVar

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Items: 72

	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 59734	GRCh38/hg38 18p11.31-11.23(chr18:6881457-8124873)x3	ARHGAP28, LAMA1 +12 more	Copy number gain	See cases	GBenign
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 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 152481	GRCh38/hg38 18p11.31-11.23(chr18:6947044-8084807)x3	LAMA1, LOC101927188 +10 more	Copy number gain	See cases	Gconflicting data from submitters
Select item 148607	GRCh38/hg38 18p11.31-11.23(chr18:6947044-7470216)x3	LAMA1, LOC101927188 +5 more	Copy number gain	See cases	GLikely benign
Select item 1633314	NM_005559.4(LAMA1):c.7785C>A (p.Ile2595=)	LAMA1, LOC126862685	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1804770	NM_005559.4(LAMA1):c.7779-13A>G	LAMA1, LOC126862685	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 1168770	NM_005559.4(LAMA1):c.7778+12C>T	LAMA1, LOC126862685	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1578732	NM_005559.4(LAMA1):c.7778+11G>A	LAMA1, LOC126862685	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1670541	NM_005559.4(LAMA1):c.7778+10C>T	LAMA1, LOC126862685	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2253438	NM_005559.4(LAMA1):c.7774C>T (p.Arg2592Trp)	LAMA1, LOC126862685 (R2592W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2056423	NM_005559.4(LAMA1):c.7764G>C (p.Leu2588Phe)	LAMA1, LOC126862685 (L2588F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1665902	NM_005559.4(LAMA1):c.7763T>C (p.Leu2588Ser)	LAMA1, LOC126862685 (L2588S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2591457	NM_005559.4(LAMA1):c.7748C>G (p.Ala2583Gly)	LAMA1, LOC126862685 (A2583G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1370338	NM_005559.4(LAMA1):c.7748C>T (p.Ala2583Val)	LAMA1, LOC126862685 (A2583V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 786328	NM_005559.4(LAMA1):c.7736G>A (p.Ser2579Asn)	LAMA1, LOC126862685 (S2579N)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1916055	NM_005559.4(LAMA1):c.7725G>A (p.Thr2575=)	LAMA1, LOC126862685	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 789235	NM_005559.4(LAMA1):c.7724C>T (p.Thr2575Met)	LAMA1, LOC126862685 (T2575M)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 786329	NM_005559.4(LAMA1):c.7716C>T (p.His2572=)	LAMA1, LOC126862685	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2589351	NM_005559.4(LAMA1):c.7706C>T (p.Ala2569Val)	LAMA1, LOC126862685 (A2569V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2486087	NM_005559.4(LAMA1):c.7688G>C (p.Gly2563Ala)	LAMA1, LOC126862685 (G2563A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1977275	NM_005559.4(LAMA1):c.7678C>T (p.Pro2560Ser)	LAMA1, LOC126862685 (P2560S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 786330	NM_005559.4(LAMA1):c.7674C>G (p.Val2558=)	LAMA1, LOC126862685	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1422652	NM_005559.4(LAMA1):c.7670A>C (p.His2557Pro)	LOC126862685, LAMA1 (H2557P)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 732516	NM_005559.4(LAMA1):c.7659C>G (p.Asn2553Lys)	LAMA1, LOC126862685 (N2553K)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2086183	NM_005559.4(LAMA1):c.7639G>A (p.Val2547Ile)	LAMA1, LOC126862685 (V2547I)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2019646	NM_005559.4(LAMA1):c.7628_7632del (p.Pro2543fs)	LAMA1, LOC126862685 (P2543fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1968414	NM_005559.4(LAMA1):c.7627-15A>G	LAMA1, LOC126862685	Single nucleotide variant (intron variant)	not provided	GLikely benign

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Items: 72