C1970456[trait identifier] AND "Illumina Laboratory Services, Illumina - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 884267	NM_001089.3(ABCA3):c.*738C>A	ABCA3	Single nucleotide variant (3 prime UTR variant)	Interstitial lung disease due to ABCA3 deficiency	GUncertain significance
Select item 886298	NM_001089.3(ABCA3):c.*692C>T	ABCA3	Single nucleotide variant (3 prime UTR variant)	Interstitial lung disease due to ABCA3 deficiency	GUncertain significance
Select item 886299	NM_001089.3(ABCA3):c.*689G>A	ABCA3	Single nucleotide variant (3 prime UTR variant)	Interstitial lung disease due to ABCA3 deficiency	GUncertain significance
Select item 886300	NM_001089.3(ABCA3):c.*625A>G	ABCA3	Single nucleotide variant (3 prime UTR variant)	Interstitial lung disease due to ABCA3 deficiency	GUncertain significance
Select item 318382	NM_001089.3(ABCA3):c.*621C>T	ABCA3	Single nucleotide variant (3 prime UTR variant)	Interstitial lung disease due to ABCA3 deficiency	GUncertain significance
Select item 886301	NM_001089.3(ABCA3):c.*447C>T	ABCA3	Single nucleotide variant (3 prime UTR variant)	Interstitial lung disease due to ABCA3 deficiency	GUncertain significance
Select item 318383	NM_001089.3(ABCA3):c.*433C>T	ABCA3	Single nucleotide variant (3 prime UTR variant)	Interstitial lung disease due to ABCA3 deficiency	GUncertain significance
Select item 318384	NM_001089.3(ABCA3):c.*406C>T	ABCA3	Single nucleotide variant (3 prime UTR variant)	Interstitial lung disease due to ABCA3 deficiency	GUncertain significance
Select item 886302	NM_001089.3(ABCA3):c.*379C>T	ABCA3	Single nucleotide variant (3 prime UTR variant)	Interstitial lung disease due to ABCA3 deficiency	GUncertain significance
Select item 318385	NM_001089.3(ABCA3):c.*312G>T	ABCA3	Single nucleotide variant (3 prime UTR variant)	Interstitial lung disease due to ABCA3 deficiency	GBenign
Select item 887296	NM_001089.3(ABCA3):c.*289G>A	ABCA3	Single nucleotide variant (3 prime UTR variant)	Interstitial lung disease due to ABCA3 deficiency	GUncertain significance
Select item 318386	NM_001089.3(ABCA3):c.*278G>A	ABCA3	Single nucleotide variant (3 prime UTR variant)	Interstitial lung disease due to ABCA3 deficiency	GUncertain significance
Select item 318387	NM_001089.3(ABCA3):c.*268G>A	ABCA3	Single nucleotide variant (3 prime UTR variant)	Interstitial lung disease due to ABCA3 deficiency	GUncertain significance
Select item 887297	NM_001089.3(ABCA3):c.*267C>T	ABCA3	Single nucleotide variant (3 prime UTR variant)	Interstitial lung disease due to ABCA3 deficiency	GUncertain significance
Select item 318388	NM_001089.3(ABCA3):c.*203T>G	ABCA3	Single nucleotide variant (3 prime UTR variant)	Interstitial lung disease due to ABCA3 deficiency	GUncertain significance
Select item 318389	NM_001089.3(ABCA3):c.*192G>A	ABCA3	Single nucleotide variant (3 prime UTR variant)	Interstitial lung disease due to ABCA3 deficiency	GUncertain significance
Select item 318390	NM_001089.3(ABCA3):c.*155G>A	ABCA3	Single nucleotide variant (3 prime UTR variant)	Interstitial lung disease due to ABCA3 deficiency	GUncertain significance
Select item 888543	NM_001089.3(ABCA3):c.*154C>T	ABCA3	Single nucleotide variant (3 prime UTR variant)	Interstitial lung disease due to ABCA3 deficiency	GUncertain significance
Select item 888544	NM_001089.3(ABCA3):c.*96T>C	ABCA3	Single nucleotide variant (3 prime UTR variant)	Interstitial lung disease due to ABCA3 deficiency	GUncertain significance
Select item 888545	NM_001089.3(ABCA3):c.*8C>T	ABCA3	Single nucleotide variant (3 prime UTR variant)	Interstitial lung disease due to ABCA3 deficiency	GUncertain significance
Select item 888546	NM_001089.3(ABCA3):c.*1G>A	ABCA3	Single nucleotide variant (3 prime UTR variant)	Interstitial lung disease due to ABCA3 deficiency	GUncertain significance
Select item 318391	NM_001089.3(ABCA3):c.5098G>A (p.Ala1700Thr)	ABCA3 (A1700T)	Single nucleotide variant (missense variant)	Hereditary pulmonary alveolar proteinosis +2 more	GUncertain significance
Select item 888547	NM_001089.3(ABCA3):c.5090C>T (p.Pro1697Leu)	ABCA3 (P1697L)	Single nucleotide variant (missense variant)	Interstitial lung disease due to ABCA3 deficiency +1 more	GUncertain significance
Select item 318392	NM_001089.3(ABCA3):c.5080C>T (p.His1694Tyr)	ABCA3 (H1694Y)	Single nucleotide variant (missense variant)	Interstitial lung disease due to ABCA3 deficiency	GUncertain significance
Select item 888548	NM_001089.3(ABCA3):c.5038G>A (p.Val1680Met)	ABCA3 (V1680M)	Single nucleotide variant (missense variant)	Interstitial lung disease due to ABCA3 deficiency +1 more	GConflicting classifications of pathogenicity
Select item 318393	NM_001089.3(ABCA3):c.5023G>A (p.Val1675Met)	ABCA3 (V1675M)	Single nucleotide variant (missense variant)	Interstitial lung disease due to ABCA3 deficiency	GUncertain significance
Select item 884330	NM_001089.3(ABCA3):c.5020G>A (p.Gly1674Ser)	ABCA3 (G1674S)	Single nucleotide variant (missense variant)	Interstitial lung disease due to ABCA3 deficiency +1 more	GConflicting classifications of pathogenicity
Select item 884331	NM_001089.3(ABCA3):c.4964G>A (p.Arg1655His)	ABCA3 (R1655H)	Single nucleotide variant (missense variant)	Interstitial lung disease due to ABCA3 deficiency	GUncertain significance
Select item 787641	NM_001089.3(ABCA3):c.4944C>T (p.Val1648=)	ABCA3	Single nucleotide variant (synonymous variant)	Hereditary pulmonary alveolar proteinosis +2 more	GConflicting classifications of pathogenicity
Select item 884332	NM_001089.3(ABCA3):c.4909+12C>G	ABCA3	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 318394	NM_001089.3(ABCA3):c.4896C>G (p.Asp1632Glu)	ABCA3 (D1632E)	Single nucleotide variant (missense variant)	Interstitial lung disease due to ABCA3 deficiency	GUncertain significance
Select item 884333	NM_001089.3(ABCA3):c.4870C>T (p.Leu1624=)	ABCA3	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 318395	NM_001089.3(ABCA3):c.4735G>T (p.Ala1579Ser)	ABCA3 (A1579S)	Single nucleotide variant (missense variant)	Interstitial lung disease due to ABCA3 deficiency	GUncertain significance
Select item 318396	NM_001089.3(ABCA3):c.4698C>T (p.Ala1566=)	ABCA3	Single nucleotide variant (synonymous variant)	Hereditary pulmonary alveolar proteinosis +2 more	GConflicting classifications of pathogenicity
Select item 886353	NM_001089.3(ABCA3):c.4682G>A (p.Arg1561Gln)	ABCA3 (R1561Q)	Single nucleotide variant (missense variant)	Interstitial lung disease due to ABCA3 deficiency +1 more	GUncertain significance
Select item 318397	NM_001089.3(ABCA3):c.4666A>G (p.Thr1556Ala)	ABCA3 (T1556A)	Single nucleotide variant (missense variant)	Hereditary pulmonary alveolar proteinosis +1 more	GUncertain significance
Select item 886354	NM_001089.3(ABCA3):c.4642G>A (p.Val1548Met)	ABCA3 (V1548M)	Single nucleotide variant (missense variant)	Interstitial lung disease due to ABCA3 deficiency	GUncertain significance
Select item 318398	NM_001089.3(ABCA3):c.4528A>G (p.Lys1510Glu)	ABCA3 (K1510E)	Single nucleotide variant (missense variant)	Interstitial lung disease due to ABCA3 deficiency	GUncertain significance
Select item 886355	NM_001089.3(ABCA3):c.4495C>T (p.Leu1499=)	ABCA3	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 504718	NM_001089.3(ABCA3):c.4420C>T (p.Arg1474Trp)	ABCA3 (R1474W)	Single nucleotide variant (missense variant)	not provided +4 more	GBenign/Likely benign
Select item 886356	NM_001089.3(ABCA3):c.4393G>A (p.Asp1465Asn)	ABCA3 (D1465N)	Single nucleotide variant (missense variant)	Interstitial lung disease due to ABCA3 deficiency +1 more	GUncertain significance
Select item 887345	NM_001089.3(ABCA3):c.4370G>A (p.Arg1457Gln)	ABCA3 (R1457Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 887346	NM_001089.3(ABCA3):c.4359+14G>A	ABCA3	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 887347	NM_001089.3(ABCA3):c.4253A>G (p.Asn1418Ser)	ABCA3 (N1418S)	Single nucleotide variant (missense variant)	Interstitial lung disease due to ABCA3 deficiency	GUncertain significance
Select item 887348	NM_001089.3(ABCA3):c.4206C>G (p.Leu1402=)	ABCA3	Single nucleotide variant (synonymous variant)	Interstitial lung disease due to ABCA3 deficiency	GUncertain significance
Select item 887349	NM_001089.3(ABCA3):c.4171G>A (p.Glu1391Lys)	ABCA3 (E1391K)	Single nucleotide variant (missense variant)	Interstitial lung disease due to ABCA3 deficiency +1 more	GUncertain significance
Select item 504719	NM_001089.3(ABCA3):c.4165-8G>A	ABCA3	Single nucleotide variant (intron variant)	not provided +3 more	GBenign/Likely benign
Select item 318399	NM_001089.3(ABCA3):c.4165-14T>C	ABCA3	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 887540	NM_001089.3(ABCA3):c.4089C>T (p.Asp1363=)	ABCA3	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 694630	NM_001089.3(ABCA3):c.4085C>T (p.Ala1362Val)	ABCA3 (A1362V)	Single nucleotide variant (missense variant)	Interstitial lung disease due to ABCA3 deficiency +2 more	GConflicting classifications of pathogenicity
Select item 318401	NM_001089.3(ABCA3):c.4027C>T (p.Arg1343Trp)	ABCA3 (R1343W)	Single nucleotide variant (missense variant)	Hereditary pulmonary alveolar proteinosis +2 more	GConflicting classifications of pathogenicity
Select item 318402	NM_001089.3(ABCA3):c.4012G>A (p.Ala1338Thr)	ABCA3 (A1338T)	Single nucleotide variant (missense variant)	Interstitial lung disease due to ABCA3 deficiency +4 more	GConflicting classifications of pathogenicity
Select item 318403	NM_001089.3(ABCA3):c.3984G>T (p.Leu1328=)	ABCA3	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 318404	NM_001089.3(ABCA3):c.3927C>T (p.Ser1309=)	ABCA3	Single nucleotide variant (synonymous variant)	Interstitial lung disease due to ABCA3 deficiency	GUncertain significance
Select item 318405	NM_001089.3(ABCA3):c.3897C>T (p.Ser1299=)	ABCA3	Single nucleotide variant (synonymous variant)	Hereditary pulmonary alveolar proteinosis +2 more	GConflicting classifications of pathogenicity
Select item 318406	NM_001089.3(ABCA3):c.3796G>C (p.Glu1266Gln)	ABCA3 (E1266Q)	Single nucleotide variant (missense variant)	Interstitial lung disease due to ABCA3 deficiency	GUncertain significance
Select item 318407	NM_001089.3(ABCA3):c.3784A>G (p.Ser1262Gly)	ABCA3 (S1262G)	Single nucleotide variant (missense variant)	Hereditary pulmonary alveolar proteinosis +3 more	GConflicting classifications of pathogenicity
Select item 318408	NM_001089.3(ABCA3):c.3667G>A (p.Ala1223Thr)	ABCA3 (A1223T)	Single nucleotide variant (missense variant)	Hereditary pulmonary alveolar proteinosis +1 more	GUncertain significance
Select item 884386	NM_001089.3(ABCA3):c.3613G>A (p.Gly1205Arg)	ABCA3 (G1205R)	Single nucleotide variant (missense variant)	Interstitial lung disease due to ABCA3 deficiency +2 more	GConflicting classifications of pathogenicity
Select item 318409	NM_001089.3(ABCA3):c.3602T>A (p.Phe1201Tyr)	ABCA3 (F1201Y)	Single nucleotide variant (missense variant)	Hereditary pulmonary alveolar proteinosis +1 more	GUncertain significance
Select item 886411	NM_001089.3(ABCA3):c.3583C>G (p.Leu1195Val)	ABCA3 (L1195V)	Single nucleotide variant (missense variant)	Interstitial lung disease due to ABCA3 deficiency	GUncertain significance
Select item 318410	NM_001089.3(ABCA3):c.3565G>A (p.Gly1189Ser)	ABCA3 (G1189S)	Single nucleotide variant (missense variant)	Interstitial lung disease due to ABCA3 deficiency	GUncertain significance
Select item 318411	NM_001089.3(ABCA3):c.3540C>T (p.Asp1180=)	ABCA3	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 886412	NM_001089.3(ABCA3):c.3504C>T (p.Asp1168=)	ABCA3	Single nucleotide variant (synonymous variant)	Interstitial lung disease due to ABCA3 deficiency +1 more	GConflicting classifications of pathogenicity
Select item 886413	NM_001089.3(ABCA3):c.3484-4G>T	ABCA3	Single nucleotide variant (intron variant)	Interstitial lung disease due to ABCA3 deficiency +1 more	GConflicting classifications of pathogenicity
Select item 318412	NM_001089.3(ABCA3):c.3483+10G>A	ABCA3	Single nucleotide variant (intron variant)	Interstitial lung disease due to ABCA3 deficiency +1 more	GConflicting classifications of pathogenicity
Select item 318413	NM_001089.3(ABCA3):c.3470G>T (p.Ser1157Ile)	ABCA3 (S1157I)	Single nucleotide variant (missense variant)	Interstitial lung disease 2 +1 more	GUncertain significance
Select item 318414	NM_001089.3(ABCA3):c.3363C>T (p.Ser1121=)	ABCA3	Single nucleotide variant (synonymous variant)	Interstitial lung disease due to ABCA3 deficiency +1 more	GConflicting classifications of pathogenicity
Select item 318415	NM_001089.3(ABCA3):c.3335C>G (p.Ala1112Gly)	ABCA3 (A1112G)	Single nucleotide variant (missense variant)	Hereditary pulmonary alveolar proteinosis +2 more	GUncertain significance
Select item 318416	NM_001089.3(ABCA3):c.3312G>T (p.Leu1104=)	ABCA3	Single nucleotide variant (synonymous variant)	Interstitial lung disease due to ABCA3 deficiency +1 more	GConflicting classifications of pathogenicity
Select item 318417	NM_001089.3(ABCA3):c.3279G>A (p.Glu1093=)	ABCA3	Single nucleotide variant (synonymous variant)	Hereditary pulmonary alveolar proteinosis +2 more	GConflicting classifications of pathogenicity
Select item 887417	NM_001089.3(ABCA3):c.3279-4G>A	ABCA3	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 884509	NM_001089.3(ABCA3):c.3278A>G (p.Glu1093Gly)	ABCA3 (E1093G)	Single nucleotide variant (missense variant)	Interstitial lung disease due to ABCA3 deficiency	GUncertain significance
Select item 884510	NM_001089.3(ABCA3):c.3242G>A (p.Arg1081Gln)	ABCA3 (R1081Q)	Single nucleotide variant (missense variant)	Interstitial lung disease due to ABCA3 deficiency +1 more	GUncertain significance
Select item 885444	NM_001089.3(ABCA3):c.3241C>T (p.Arg1081Trp)	ABCA3 (R1081W)	Single nucleotide variant (missense variant)	Interstitial lung disease due to ABCA3 deficiency +1 more	GConflicting classifications of pathogenicity
Select item 885445	NM_001089.3(ABCA3):c.3234C>T (p.Pro1078=)	ABCA3	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 885446	NM_001089.3(ABCA3):c.3231C>T (p.Phe1077=)	ABCA3	Single nucleotide variant (synonymous variant)	Interstitial lung disease due to ABCA3 deficiency +1 more	GConflicting classifications of pathogenicity
Select item 318426	NM_001089.3(ABCA3):c.3207C>T (p.His1069=)	ABCA3	Single nucleotide variant (synonymous variant)	Hereditary pulmonary alveolar proteinosis +2 more	GConflicting classifications of pathogenicity
Select item 318427	NM_001089.3(ABCA3):c.3195G>A (p.Leu1065=)	ABCA3	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 885447	NM_001089.3(ABCA3):c.3118G>A (p.Ala1040Thr)	ABCA3 (A1040T)	Single nucleotide variant (missense variant)	Interstitial lung disease due to ABCA3 deficiency	GUncertain significance
Select item 318428	NM_001089.3(ABCA3):c.3004+15G>A	ABCA3	Single nucleotide variant (intron variant)	Interstitial lung disease due to ABCA3 deficiency +1 more	GConflicting classifications of pathogenicity
Select item 318429	NM_001089.3(ABCA3):c.3003C>T (p.Leu1001=)	ABCA3	Single nucleotide variant (synonymous variant)	ABCA3-related condition +1 more	GConflicting classifications of pathogenicity
Select item 318430	NM_001089.3(ABCA3):c.2994C>T (p.Arg998=)	ABCA3	Single nucleotide variant (synonymous variant)	Hereditary pulmonary alveolar proteinosis +2 more	GConflicting classifications of pathogenicity
Select item 886471	NM_001089.3(ABCA3):c.2857G>A (p.Asp953Asn)	ABCA3 (D953N)	Single nucleotide variant (missense variant)	Hereditary pulmonary alveolar proteinosis +3 more	GConflicting classifications of pathogenicity
Select item 887719	NM_001089.3(ABCA3):c.2856C>T (p.Asp952=)	ABCA3	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 318431	NM_001089.3(ABCA3):c.2796G>A (p.Val932=)	ABCA3	Single nucleotide variant (synonymous variant)	Interstitial lung disease due to ABCA3 deficiency +1 more	GBenign/Likely benign
Select item 318452	NM_001089.3(ABCA3):c.2679C>T (p.Thr893=)	ABCA3	Single nucleotide variant (synonymous variant)	Interstitial lung disease due to ABCA3 deficiency +1 more	GConflicting classifications of pathogenicity
Select item 318453	NM_001089.3(ABCA3):c.2659C>T (p.Leu887Phe)	ABCA3 (L887F)	Single nucleotide variant (missense variant)	Interstitial lung disease due to ABCA3 deficiency	GUncertain significance
Select item 318454	NM_001089.3(ABCA3):c.2616C>T (p.Ser872=)	ABCA3	Single nucleotide variant (synonymous variant)	Interstitial lung disease due to ABCA3 deficiency +1 more	GConflicting classifications of pathogenicity
Select item 884832	NM_001089.3(ABCA3):c.2614A>G (p.Ser872Gly)	ABCA3 (S872G)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 884833	NM_001089.3(ABCA3):c.2539A>G (p.Met847Val)	ABCA3 (M847V)	Single nucleotide variant (missense variant)	Abnormal pulmonary interstitial morphology +2 more	GUncertain significance
Select item 226452	NM_001089.3(ABCA3):c.2514-8C>T	ABCA3	Single nucleotide variant (intron variant)	Interstitial lung disease due to ABCA3 deficiency +2 more	GBenign
Select item 884914	NM_001089.3(ABCA3):c.2448G>A (p.Lys816=)	ABCA3	Single nucleotide variant (synonymous variant)	Hereditary pulmonary alveolar proteinosis +2 more	GConflicting classifications of pathogenicity
Select item 318487	NM_001089.3(ABCA3):c.2341G>A (p.Val781Met)	ABCA3 (V781M)	Single nucleotide variant (missense variant)	Hereditary pulmonary alveolar proteinosis +1 more	GUncertain significance
Select item 596957	NM_001089.3(ABCA3):c.2340C>T (p.His780=)	ABCA3	Single nucleotide variant (synonymous variant)	Interstitial lung disease due to ABCA3 deficiency +2 more	GConflicting classifications of pathogenicity
Select item 318488	NM_001089.3(ABCA3):c.2316C>A (p.Asp772Glu)	ABCA3 (D772E)	Single nucleotide variant (missense variant)	Interstitial lung disease due to ABCA3 deficiency	GUncertain significance
Select item 318489	NM_001089.3(ABCA3):c.2309C>T (p.Pro770Leu)	ABCA3 (P770L)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 178696	NM_001089.3(ABCA3):c.2296C>T (p.Pro766Ser)	ABCA3 (P766S)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 318493	NM_001089.3(ABCA3):c.2268C>T (p.Ala756=)	ABCA3	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 884983	NM_001089.3(ABCA3):c.2216G>C (p.Gly739Ala)	ABCA3 (G739A)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity

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