ClinVar for Gene (Select 21) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3375130	NM_001089.3(ABCA3):c.4444C>T (p.Arg1482Trp)	ABCA3 (R1482W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3366688	NM_001089.3(ABCA3):c.3137C>T (p.Ala1046Val)	ABCA3 (A1046V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3358857	NM_001089.3(ABCA3):c.920C>T (p.Ala307Val)	ABCA3 (A307V)	Single nucleotide variant (missense variant)	Interstitial lung disease due to ABCA3 deficiency	GLikely pathogenic
Select item 3341964	NM_001089.3(ABCA3):c.1675G>A (p.Gly559Arg)	ABCA3 (G559R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3341823	NM_001089.3(ABCA3):c.4745C>G (p.Thr1582Ser)	ABCA3 (T1582S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3338964	NM_001089.3(ABCA3):c.4972A>G (p.Ser1658Gly)	ABCA3 (S1658G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3338953	NM_001089.3(ABCA3):c.757G>T (p.Asp253Tyr)	ABCA3 (D253Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3338428	GRCh37/hg19 16p13.3(chr16:2229815-2582030)x4	ABCA3, AMDHD2 +14 more	Copy number gain	Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome	GLikely pathogenic
Select item 3337776	NM_001089.3(ABCA3):c.115C>T (p.Leu39Phe)	ABCA3 (L39F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3336494	NM_001089.3(ABCA3):c.4732G>A (p.Glu1578Lys)	ABCA3 (E1578K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3281473	NM_001089.3(ABCA3):c.1174G>A (p.Val392Met)	ABCA3 (V392M)	Single nucleotide variant (missense variant)	Hereditary pulmonary alveolar proteinosis	GUncertain significance
Select item 3281387	NM_001089.3(ABCA3):c.1318C>T (p.Pro440Ser)	ABCA3 (P440S)	Single nucleotide variant (missense variant)	Hereditary pulmonary alveolar proteinosis	GUncertain significance
Select item 3281296	NM_001089.3(ABCA3):c.4445G>A (p.Arg1482Gln)	ABCA3 (R1482Q)	Single nucleotide variant (missense variant)	Hereditary pulmonary alveolar proteinosis	GUncertain significance
Select item 3281209	NM_001089.3(ABCA3):c.3473T>G (p.Leu1158Arg)	ABCA3 (L1158R)	Single nucleotide variant (missense variant)	Hereditary pulmonary alveolar proteinosis	GUncertain significance
Select item 3281114	NM_001089.3(ABCA3):c.3098G>C (p.Gly1033Ala)	ABCA3 (G1033A)	Single nucleotide variant (missense variant)	Hereditary pulmonary alveolar proteinosis	GUncertain significance
Select item 3281013	NM_001089.3(ABCA3):c.1251G>A (p.Met417Ile)	ABCA3 (M417I)	Single nucleotide variant (missense variant)	Hereditary pulmonary alveolar proteinosis	GUncertain significance
Select item 3280918	NM_001089.3(ABCA3):c.2214G>C (p.Lys738Asn)	ABCA3 (K738N)	Single nucleotide variant (missense variant)	Hereditary pulmonary alveolar proteinosis	GUncertain significance
Select item 3280840	NM_001089.3(ABCA3):c.589A>G (p.Thr197Ala)	ABCA3 (T197A)	Single nucleotide variant (missense variant)	Hereditary pulmonary alveolar proteinosis	GLikely benign
Select item 3280747	NM_001089.3(ABCA3):c.1556T>C (p.Phe519Ser)	ABCA3 (F519S)	Single nucleotide variant (missense variant)	Hereditary pulmonary alveolar proteinosis	GUncertain significance
Select item 3280553	NM_001089.3(ABCA3):c.1187A>G (p.Tyr396Cys)	ABCA3 (Y396C)	Single nucleotide variant (missense variant)	Hereditary pulmonary alveolar proteinosis	GUncertain significance
Select item 3280505	NM_001089.3(ABCA3):c.2977G>A (p.Glu993Lys)	ABCA3 (E993K)	Single nucleotide variant (missense variant)	Hereditary pulmonary alveolar proteinosis	GUncertain significance
Select item 3280323	NM_001089.3(ABCA3):c.3073G>A (p.Val1025Met)	ABCA3 (V1025M)	Single nucleotide variant (missense variant)	Hereditary pulmonary alveolar proteinosis	GUncertain significance
Select item 3280117	NM_001089.3(ABCA3):c.2518G>A (p.Gly840Arg)	ABCA3 (G840R)	Single nucleotide variant (missense variant)	Hereditary pulmonary alveolar proteinosis	GUncertain significance
Select item 3280021	NM_001089.3(ABCA3):c.3510T>A (p.Arg1170=)	ABCA3	Single nucleotide variant (synonymous variant)	Hereditary pulmonary alveolar proteinosis	GLikely benign
Select item 3279934	NM_001089.3(ABCA3):c.952A>T (p.Ile318Phe)	ABCA3 (I318F)	Single nucleotide variant (missense variant)	Hereditary pulmonary alveolar proteinosis	GUncertain significance
Select item 3279831	NM_001089.3(ABCA3):c.677A>T (p.His226Leu)	ABCA3 (H226L)	Single nucleotide variant (missense variant)	Hereditary pulmonary alveolar proteinosis	GUncertain significance
Select item 3279473	NM_001089.3(ABCA3):c.1057T>C (p.Phe353Leu)	ABCA3 (F353L)	Single nucleotide variant (missense variant)	Hereditary pulmonary alveolar proteinosis	GUncertain significance
Select item 3254570	NM_001089.3(ABCA3):c.1288A>G (p.Met430Val)	ABCA3 (M430V)	Single nucleotide variant (missense variant)	Hereditary pulmonary alveolar proteinosis +1 more	GUncertain significance
Select item 3253584	NM_001089.3(ABCA3):c.2843C>T (p.Ser948Leu)	ABCA3 (S948L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3252927	NM_001089.3(ABCA3):c.1742-9G>A	ABCA3	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3251762	NM_001089.3(ABCA3):c.3347C>T (p.Ser1116Phe)	ABCA3 (S1116F)	Single nucleotide variant (missense variant)	Interstitial lung disease due to ABCA3 deficiency	GLikely pathogenic
Select item 3251334	NM_001089.3(ABCA3):c.4253A>T (p.Asn1418Ile)	ABCA3 (N1418I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3243612	NC_000016.9:g.(?_2333167)_(2339641_?)dup	ABCA3	Duplication	not provided	GLikely pathogenic
Select item 3243611	NC_000016.9:g.(?_2367264)_(2367785_?)del	ABCA3	Deletion	not provided	GPathogenic
Select item 3243610	NC_000016.9:g.(?_2358431)_(2369861_?)del	ABCA3	Deletion	not provided	GPathogenic
Select item 3243609	NC_000016.9:g.(?_2367264)_(2376467_?)del	ABCA3	Deletion	not provided	GPathogenic
Select item 3243608	NC_000016.9:g.(?_2333167)_(2335667_?)del	ABCA3	Deletion	not provided	GPathogenic
Select item 3243607	NC_000016.9:g.(?_2347310)_(2347942_?)del	ABCA3	Deletion	not provided	GPathogenic
Select item 3243606	NC_000016.9:g.(?_2353950)_(2354171_?)del	ABCA3	Deletion	not provided	GPathogenic
Select item 3243525	NC_000016.9:g.(?_1822222)_(2550959_?)dup	ABCA3, BRICD5 +39 more	Duplication	Caused by mutation in the TBC1 domain family, member 24 +2 more	GUncertain significance
Select item 3243222	NC_000016.9:g.(?_339420)_(3767509_?)dup	ABCA3, AMDHD2 +142 more	Duplication	Idiopathic generalized epilepsy +2 more	GUncertain significance
Select item 3233564	NM_001089.3(ABCA3):c.4090G>A (p.Glu1364Lys)	ABCA3 (E1364K)	Single nucleotide variant (missense variant)	Interstitial lung disease due to ABCA3 deficiency	GLikely pathogenic
Select item 3232701	NM_001089.3(ABCA3):c.4729T>G (p.Cys1577Gly)	ABCA3 (C1577G)	Single nucleotide variant (missense variant)	Hereditary pulmonary alveolar proteinosis	GUncertain significance
Select item 3232700	NM_001089.3(ABCA3):c.426C>G (p.Ser142Arg)	ABCA3 (S142R)	Single nucleotide variant (missense variant)	Hereditary pulmonary alveolar proteinosis	GUncertain significance
Select item 3232699	NM_001089.3(ABCA3):c.2693A>G (p.Asn898Ser)	ABCA3 (N898S)	Single nucleotide variant (missense variant)	Hereditary pulmonary alveolar proteinosis	GUncertain significance
Select item 3232698	NM_001089.3(ABCA3):c.2381T>C (p.Leu794Pro)	ABCA3 (L794P)	Single nucleotide variant (missense variant)	Hereditary pulmonary alveolar proteinosis	GUncertain significance
Select item 3232697	NM_001089.3(ABCA3):c.2287G>C (p.Val763Leu)	ABCA3 (V763L)	Single nucleotide variant (missense variant)	Hereditary pulmonary alveolar proteinosis	GUncertain significance
Select item 3232696	NM_001089.3(ABCA3):c.2101A>T (p.Arg701Trp)	ABCA3 (R701W)	Single nucleotide variant (missense variant)	Hereditary pulmonary alveolar proteinosis	GUncertain significance
Select item 3101013	NM_001089.3(ABCA3):c.967A>G (p.Met323Val)	ABCA3 (M323V)	Single nucleotide variant (missense variant)	Hereditary pulmonary alveolar proteinosis	GUncertain significance
Select item 3100946	NM_001089.3(ABCA3):c.956C>G (p.Ala319Gly)	ABCA3 (A319G)	Single nucleotide variant (missense variant)	Hereditary pulmonary alveolar proteinosis	GUncertain significance
Select item 3100911	NM_001089.3(ABCA3):c.841G>A (p.Ala281Thr)	ABCA3 (A281T)	Single nucleotide variant (missense variant)	Hereditary pulmonary alveolar proteinosis	GUncertain significance
Select item 3100844	NM_001089.3(ABCA3):c.716C>T (p.Thr239Met)	ABCA3 (T239M)	Single nucleotide variant (missense variant)	Hereditary pulmonary alveolar proteinosis	GUncertain significance
Select item 3100464	NM_001089.3(ABCA3):c.4501G>A (p.Gly1501Ser)	ABCA3 (G1501S)	Single nucleotide variant (missense variant)	Hereditary pulmonary alveolar proteinosis	GUncertain significance
Select item 3100200	NM_001089.3(ABCA3):c.4051C>G (p.Arg1351Gly)	ABCA3 (R1351G)	Single nucleotide variant (missense variant)	Hereditary pulmonary alveolar proteinosis	GUncertain significance
Select item 3100181	NM_001089.3(ABCA3):c.4039G>C (p.Glu1347Gln)	ABCA3 (E1347Q)	Single nucleotide variant (missense variant)	Hereditary pulmonary alveolar proteinosis	GUncertain significance
Select item 3100139	NM_001089.3(ABCA3):c.4012G>T (p.Ala1338Ser)	ABCA3 (A1338S)	Single nucleotide variant (missense variant)	Hereditary pulmonary alveolar proteinosis	GUncertain significance
Select item 3099628	NM_001089.3(ABCA3):c.2955T>G (p.His985Gln)	ABCA3 (H985Q)	Single nucleotide variant (missense variant)	Hereditary pulmonary alveolar proteinosis	GUncertain significance
Select item 3099594	NM_001089.3(ABCA3):c.2939A>C (p.Gln980Pro)	ABCA3 (Q980P)	Single nucleotide variant (missense variant)	Hereditary pulmonary alveolar proteinosis	GUncertain significance
Select item 3099532	NM_001089.3(ABCA3):c.2881G>A (p.Gly961Ser)	ABCA3 (G961S)	Single nucleotide variant (missense variant)	Hereditary pulmonary alveolar proteinosis	GUncertain significance
Select item 3099447	NM_001089.3(ABCA3):c.2656G>C (p.Ala886Pro)	ABCA3 (A886P)	Single nucleotide variant (missense variant)	Hereditary pulmonary alveolar proteinosis	GUncertain significance
Select item 3099397	NM_001089.3(ABCA3):c.2593G>A (p.Ala865Thr)	ABCA3 (A865T)	Single nucleotide variant (missense variant)	Hereditary pulmonary alveolar proteinosis	GUncertain significance
Select item 3099273	NM_001089.3(ABCA3):c.2410C>T (p.His804Tyr)	ABCA3 (H804Y)	Single nucleotide variant (missense variant)	Hereditary pulmonary alveolar proteinosis	GUncertain significance
Select item 3099214	NM_001089.3(ABCA3):c.2389A>G (p.Ile797Val)	ABCA3 (I797V)	Single nucleotide variant (missense variant)	Hereditary pulmonary alveolar proteinosis	GUncertain significance
Select item 3099122	NM_001089.3(ABCA3):c.2095T>G (p.Ser699Ala)	ABCA3 (S699A)	Single nucleotide variant (missense variant)	Hereditary pulmonary alveolar proteinosis	GUncertain significance
Select item 3099027	NM_001089.3(ABCA3):c.1954A>G (p.Ile652Val)	ABCA3 (I652V)	Single nucleotide variant (missense variant)	Hereditary pulmonary alveolar proteinosis	GUncertain significance
Select item 3098906	NM_001089.3(ABCA3):c.1783T>C (p.Tyr595His)	ABCA3 (Y595H)	Single nucleotide variant (missense variant)	Hereditary pulmonary alveolar proteinosis	GUncertain significance
Select item 3098873	NM_001089.3(ABCA3):c.1672G>C (p.Glu558Gln)	ABCA3 (E558Q)	Single nucleotide variant (missense variant)	Hereditary pulmonary alveolar proteinosis	GUncertain significance
Select item 3062184	NM_001089.3(ABCA3):c.4331dup (p.His1445fs)	ABCA3 (H1445fs)	Duplication (frameshift variant)	Interstitial lung disease due to ABCA3 deficiency	GLikely pathogenic
Select item 3057684	NM_001089.3(ABCA3):c.3450C>T (p.Leu1150=)	ABCA3	Single nucleotide variant (synonymous variant)	ABCA3-related disorder	GLikely benign
Select item 3046574	NM_001089.3(ABCA3):c.3459C>T (p.Phe1153=)	ABCA3	Single nucleotide variant (synonymous variant)	ABCA3-related disorder	GLikely benign
Select item 3023794	NM_001089.3(ABCA3):c.2701-4G>A	ABCA3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3023761	NM_001089.3(ABCA3):c.3278+16G>A	ABCA3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3023741	NM_001089.3(ABCA3):c.447+16G>A	ABCA3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3023475	NM_001089.3(ABCA3):c.378G>A (p.Ser126=)	ABCA3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3023365	NM_001089.3(ABCA3):c.4353C>T (p.Val1451=)	ABCA3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3023319	NM_001089.3(ABCA3):c.717G>A (p.Thr239=)	ABCA3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3022541	NM_001089.3(ABCA3):c.3703+12G>A	ABCA3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3021450	NM_001089.3(ABCA3):c.3484-20G>A	ABCA3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3021191	NM_001089.3(ABCA3):c.447+15C>T	ABCA3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3021141	NM_001089.3(ABCA3):c.3108G>A (p.Thr1036=)	ABCA3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3020289	NM_001089.3(ABCA3):c.3564C>T (p.Tyr1188=)	ABCA3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3020287	NM_001089.3(ABCA3):c.1710C>T (p.Ala570=)	ABCA3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3020065	NM_001089.3(ABCA3):c.4422G>A (p.Arg1474=)	ABCA3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3019426	NM_001089.3(ABCA3):c.1002T>C (p.Asn334=)	ABCA3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3019288	NM_001089.3(ABCA3):c.3888T>C (p.Tyr1296=)	ABCA3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3019151	NM_001089.3(ABCA3):c.3357G>A (p.Ala1119=)	ABCA3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3019073	NM_001089.3(ABCA3):c.3081G>A (p.Ala1027=)	ABCA3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3018942	NM_001089.3(ABCA3):c.4260C>T (p.Ala1420=)	ABCA3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3018939	NM_001089.3(ABCA3):c.3240C>T (p.Pro1080=)	ABCA3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3017549	NM_001089.3(ABCA3):c.3108G>T (p.Thr1036=)	ABCA3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3016952	NM_001089.3(ABCA3):c.1971G>A (p.Lys657=)	ABCA3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3016599	NM_001089.3(ABCA3):c.2053-29_2053-5dup	ABCA3	Duplication (intron variant)	not provided	GLikely benign
Select item 3016388	NM_001089.3(ABCA3):c.2664C>T (p.Ile888=)	ABCA3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3015429	NM_001089.3(ABCA3):c.27C>G (p.Leu9=)	ABCA3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3014958	NM_001089.3(ABCA3):c.4909+10G>A	ABCA3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3013591	NM_001089.3(ABCA3):c.27C>T (p.Leu9=)	ABCA3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3012757	NM_001089.3(ABCA3):c.2264-4C>T	ABCA3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3012706	NM_001089.3(ABCA3):c.624G>C (p.Arg208=)	ABCA3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3011898	NM_001089.3(ABCA3):c.1053G>A (p.Leu351=)	ABCA3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3011742	NM_001089.3(ABCA3):c.1286-7C>T	ABCA3	Single nucleotide variant (intron variant)	not provided	GLikely benign

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