Related gene-specific medical variations for Gene (Select 21) - ClinVar

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Items: 35

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 2575962	NM_001089.3(ABCA3):c.3762C>G (p.Asn1254Lys)	ABCA3 (N1254K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2575961	NM_001089.3(ABCA3):c.3070C>T (p.Leu1024Phe)	ABCA3 (L1024F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2438840	NM_001089.3(ABCA3):c.3997del (p.Arg1333fs)	ABCA3 (R1333fs)	Deletion (frameshift variant)	Interstitial lung disease due to ABCA3 deficiency	GLikely pathogenic
Select item 2438727	NM_001089.3(ABCA3):c.2513+311del	ABCA3	Deletion (intron variant)	Interstitial lung disease due to ABCA3 deficiency	GUncertain significance
Select item 2438726	NM_001089.3(ABCA3):c.2258A>C (p.Lys753Thr)	ABCA3 (K753T)	Single nucleotide variant (missense variant)	Interstitial lung disease due to ABCA3 deficiency	GUncertain significance
Select item 2438725	NM_001089.3(ABCA3):c.-539+1575G>A	ABCA3	Single nucleotide variant (intron variant)	Interstitial lung disease due to ABCA3 deficiency	GUncertain significance
Select item 2438724	NM_001089.3(ABCA3):c.1467+1740T>C	ABCA3	Single nucleotide variant (intron variant)	Interstitial lung disease due to ABCA3 deficiency	GUncertain significance
Select item 2438723	NM_001089.3(ABCA3):c.419A>G (p.Asn140Ser)	ABCA3 (N140S)	Single nucleotide variant (missense variant)	Interstitial lung disease due to ABCA3 deficiency	GUncertain significance
Select item 2438722	NM_001089.3(ABCA3):c.1912C>T (p.Arg638Cys)	ABCA3 (R638C)	Single nucleotide variant (missense variant)	Interstitial lung disease due to ABCA3 deficiency	GUncertain significance
Select item 1527904	NM_001089.3(ABCA3):c.3928A>G (p.Met1310Val)	ABCA3 (M1310V)	Single nucleotide variant (missense variant)	Interstitial lung disease due to ABCA3 deficiency	GUncertain significance
Select item 1322151	NM_001089.3(ABCA3):c.1286-2A>G	ABCA3	Single nucleotide variant (splice acceptor variant)	Interstitial lung disease due to ABCA3 deficiency	GPathogenic
Select item 1251986	NM_001089.3(ABCA3):c.3235C>T (p.Gln1079Ter)	ABCA3 (Q1079*)	Single nucleotide variant (nonsense)	Interstitial lung disease due to ABCA3 deficiency	GPathogenic
Select item 972678	NM_001089.3(ABCA3):c.2965G>A (p.Ala989Thr)	ABCA3 (A989T)	Single nucleotide variant (missense variant)	Interstitial lung disease due to ABCA3 deficiency	GUncertain significance
Select item 812151	NM_001089.3(ABCA3):c.1232C>A (p.Ser411Tyr)	ABCA3 (S411Y)	Single nucleotide variant (missense variant)	Interstitial lung disease due to ABCA3 deficiency	GUncertain significance
Select item 448960	NM_001089.3(ABCA3):c.3311T>G (p.Leu1104Arg)	ABCA3 (L1104R)	Single nucleotide variant (missense variant)	Interstitial lung disease due to ABCA3 deficiency	GUncertain significance
Select item 446422	NM_001089.3(ABCA3):c.2815C>A (p.Leu939Met)	ABCA3 (L939M)	Single nucleotide variant (missense variant)	Interstitial lung disease due to ABCA3 deficiency	GUncertain significance
Select item 318604	NM_001089.3(ABCA3):c.-673C>T	ABCA3, LOC130058230	Single nucleotide variant (5 prime UTR variant)	Interstitial lung disease due to ABCA3 deficiency	GUncertain significance
Select item 318603	NM_001089.3(ABCA3):c.-671T>A	ABCA3, LOC130058230	Single nucleotide variant (5 prime UTR variant)	Interstitial lung disease due to ABCA3 deficiency	GBenign
Select item 318602	NM_001089.3(ABCA3):c.-670C>T	ABCA3, LOC130058230	Single nucleotide variant (5 prime UTR variant)	Interstitial lung disease due to ABCA3 deficiency	GUncertain significance
Select item 318601	NM_001089.3(ABCA3):c.-659C>T	ABCA3, LOC130058230	Single nucleotide variant (5 prime UTR variant)	Interstitial lung disease due to ABCA3 deficiency	GUncertain significance
Select item 318600	NM_001089.3(ABCA3):c.-577G>A	LOC130058230, ABCA3	Single nucleotide variant (5 prime UTR variant)	Interstitial lung disease due to ABCA3 deficiency	GUncertain significance
Select item 318599	NM_001089.3(ABCA3):c.-569C>T	ABCA3, LOC130058230	Single nucleotide variant (5 prime UTR variant)	Interstitial lung disease due to ABCA3 deficiency	GUncertain significance
Select item 318598	NM_001089.3(ABCA3):c.-561C>A	ABCA3, LOC130058230	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign
Select item 161510	NM_001089.3(ABCA3):c.2086G>A (p.Asp696Asn)	ABCA3 (D696N)	Single nucleotide variant (missense variant)	Malignant tumor of prostate	GUncertain significance
Select item 88779	NM_001089.3(ABCA3):c.613G>A (p.Gly205Arg)	ABCA3 (G205R)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 88778	NM_001089.3(ABCA3):c.4822G>T (p.Gly1608Cys)	ABCA3 (G1608C)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 88777	NM_001089.3(ABCA3):c.4322T>C (p.Phe1441Ser)	ABCA3 (F1441S)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 88776	NM_001089.3(ABCA3):c.2467G>C (p.Ala823Pro)	ABCA3 (A823P)	Single nucleotide variant (missense variant)	not provided	Gnot provided

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Links from Gene

Items: 35