ClinVar for Gene (Select 21) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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	Autosomal dominant nonsyndromic hearing loss 65 +2 more	GUncertain significance
Select item 3243222	NC_000016.9:g.(?_339420)_(3767509_?)dup	ABCA3, AMDHD2 +142 more	Duplication	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 +2 more	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
Select item 3011362	NM_001089.3(ABCA3):c.3159C>A (p.Ala1053=)	ABCA3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3010882	NM_001089.3(ABCA3):c.447+20C>T	ABCA3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3010506	NM_001089.3(ABCA3):c.319+15G>T	ABCA3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3009925	NM_001089.3(ABCA3):c.837C>T (p.Ala279=)	ABCA3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3009916	NM_001089.3(ABCA3):c.2053-5T>C	ABCA3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3009782	NM_001089.3(ABCA3):c.613+12G>A	ABCA3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3009532	NM_001089.3(ABCA3):c.2414+15G>A	ABCA3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3009408	NM_001089.3(ABCA3):c.4164+16G>C	ABCA3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3009001	NM_001089.3(ABCA3):c.3278+13_3278+22del	ABCA3	Deletion (intron variant)	not provided	GLikely benign
Select item 3007792	NM_001089.3(ABCA3):c.1836G>T (p.Pro612=)	ABCA3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3007761	NM_001089.3(ABCA3):c.3051C>T (p.Gly1017=)	ABCA3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3007226	NM_001089.3(ABCA3):c.300A>G (p.Ala100=)	ABCA3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3006992	NM_001089.3(ABCA3):c.4547+11C>T	ABCA3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3006956	NM_001089.3(ABCA3):c.1648A>C (p.Arg550=)	ABCA3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3006608	NM_001089.3(ABCA3):c.1285+8_1285+11del	ABCA3	Deletion (intron variant)	not provided	GLikely benign
Select item 3006576	NM_001089.3(ABCA3):c.168C>T (p.Ile56=)	ABCA3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3006490	NM_001089.3(ABCA3):c.2292G>A (p.Lys764=)	ABCA3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3006373	NM_001089.3(ABCA3):c.3117C>T (p.Asn1039=)	ABCA3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3006246	NM_001089.3(ABCA3):c.3703+13A>C	ABCA3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3005969	NM_001089.3(ABCA3):c.2263+11G>A	ABCA3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3005929	NM_001089.3(ABCA3):c.4275T>C (p.Thr1425=)	ABCA3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3005714	NM_001089.3(ABCA3):c.3675C>T (p.Phe1225=)	ABCA3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3005450	NM_001089.3(ABCA3):c.264C>T (p.Asp88=)	ABCA3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3005392	NM_001089.3(ABCA3):c.3278+15C>T	ABCA3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3005294	NM_001089.3(ABCA3):c.456T>C (p.Tyr152=)	ABCA3	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 3005269	NM_001089.3(ABCA3):c.1011G>A (p.Val337=)	ABCA3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3005098	NM_001089.3(ABCA3):c.2513+12C>T	ABCA3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3004939	NM_001089.3(ABCA3):c.614-14G>A	ABCA3	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3004896	NM_001089.3(ABCA3):c.3278+8C>T	ABCA3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3004499	NM_001089.3(ABCA3):c.3915G>C (p.Arg1305=)	ABCA3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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