"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "ABCA3"[ - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2020147	NM_001089.3(ABCA3):c.5109dup (p.Arg1704fs)	ABCA3 (R1704fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 2730106	NM_001089.3(ABCA3):c.5109G>A (p.Gly1703=)	ABCA3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2759931	NM_001089.3(ABCA3):c.5106G>A (p.Glu1702=)	ABCA3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 227154	NM_001089.3(ABCA3):c.5101G>A (p.Glu1701Lys)	ABCA3 (E1701K)	Single nucleotide variant (missense variant)	Interstitial lung disease due to ABCA3 deficiency +3 more	GLikely benign
Select item 2818249	NM_001089.3(ABCA3):c.5100A>G (p.Ala1700=)	ABCA3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1543139	NM_001089.3(ABCA3):c.5097C>T (p.Thr1699=)	ABCA3	Single nucleotide variant (synonymous variant)	Hereditary pulmonary alveolar proteinosis +1 more	GLikely benign
Select item 1745280	NM_001089.3(ABCA3):c.5091G>A (p.Pro1697=)	ABCA3	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2804407	NM_001089.3(ABCA3):c.5085G>A (p.Leu1695=)	ABCA3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2834536	NM_001089.3(ABCA3):c.5083C>T (p.Leu1695=)	ABCA3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2988556	NM_001089.3(ABCA3):c.5082C>T (p.His1694=)	ABCA3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2736409	NM_001089.3(ABCA3):c.5076C>T (p.Phe1692=)	ABCA3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2182472	NM_001089.3(ABCA3):c.5052G>T (p.Ser1684=)	ABCA3	Single nucleotide variant (synonymous variant)	Hereditary pulmonary alveolar proteinosis +1 more	GLikely benign
Select item 1745046	NM_001089.3(ABCA3):c.5052G>A (p.Ser1684=)	ABCA3	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2881959	NM_001089.3(ABCA3):c.5043C>T (p.Ser1681=)	ABCA3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2806195	NM_001089.3(ABCA3):c.5040G>A (p.Val1680=)	ABCA3	Single nucleotide variant (synonymous variant)	not provided	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 3002886	NM_001089.3(ABCA3):c.5037C>T (p.Ser1679=)	ABCA3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2782769	NM_001089.3(ABCA3):c.5028C>T (p.Asp1676=)	ABCA3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1632675	NM_001089.3(ABCA3):c.5022C>T (p.Gly1674=)	ABCA3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2903302	NM_001089.3(ABCA3):c.5019C>T (p.Tyr1673=)	ABCA3	Single nucleotide variant (synonymous variant)	Hereditary pulmonary alveolar proteinosis +1 more	GLikely benign
Select item 2791949	NM_001089.3(ABCA3):c.4998G>A (p.Leu1666=)	ABCA3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1462986	NM_001089.3(ABCA3):c.4990G>C (p.Gly1664Arg)	ABCA3 (G1664R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2966822	NM_001089.3(ABCA3):c.4989C>T (p.Phe1663=)	ABCA3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2968400	NM_001089.3(ABCA3):c.4984-4A>G	ABCA3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2958717	NM_001089.3(ABCA3):c.4984-4A>C	ABCA3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1585843	NM_001089.3(ABCA3):c.4984-7C>T	ABCA3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2959434	NM_001089.3(ABCA3):c.4984-8C>T	ABCA3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2766493	NM_001089.3(ABCA3):c.4984-11G>A	ABCA3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2998908	NM_001089.3(ABCA3):c.4984-12T>C	ABCA3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2822458	NM_001089.3(ABCA3):c.4984-14T>C	ABCA3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2821869	NM_001089.3(ABCA3):c.4984-18C>T	ABCA3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2742997	NM_001089.3(ABCA3):c.4983+17G>C	ABCA3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2769375	NM_001089.3(ABCA3):c.4983+16G>C	ABCA3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2700778	NM_001089.3(ABCA3):c.4983+15G>A	ABCA3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2782879	NM_001089.3(ABCA3):c.4983+13C>A	ABCA3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2846941	NM_001089.3(ABCA3):c.4983+9G>A	ABCA3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2965038	NM_001089.3(ABCA3):c.4980G>A (p.Ala1660=)	ABCA3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2889506	NM_001089.3(ABCA3):c.4967A>C (p.Asp1656Ala)	ABCA3 (D1656A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1978419	NM_001089.3(ABCA3):c.4966G>A (p.Asp1656Asn)	ABCA3 (D1656N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1744367	NM_001089.3(ABCA3):c.4959G>A (p.Pro1653=)	ABCA3	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 787641	NM_001089.3(ABCA3):c.4944C>T (p.Val1648=)	ABCA3	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2739002	NM_001089.3(ABCA3):c.4929G>A (p.Glu1643=)	ABCA3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2980153	NM_001089.3(ABCA3):c.4923A>G (p.Glu1641=)	ABCA3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2884468	NM_001089.3(ABCA3):c.4914C>T (p.Ser1638=)	ABCA3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3004132	NM_001089.3(ABCA3):c.4910-4G>A	ABCA3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2858333	NM_001089.3(ABCA3):c.4910-6G>C	ABCA3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2749384	NM_001089.3(ABCA3):c.4910-6G>A	ABCA3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2787082	NM_001089.3(ABCA3):c.4910-7T>C	ABCA3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2808848	NM_001089.3(ABCA3):c.4910-15C>T	ABCA3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2970996	NM_001089.3(ABCA3):c.4910-17G>A	ABCA3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2998011	NM_001089.3(ABCA3):c.4910-18C>T	ABCA3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2796115	NM_001089.3(ABCA3):c.4909+16_4909+38del	ABCA3	Deletion (intron variant)	not provided	GLikely benign
Select item 2738348	NM_001089.3(ABCA3):c.4909+20_4909+26del	ABCA3	Deletion (intron variant)	not provided	GLikely benign
Select item 2974601	NM_001089.3(ABCA3):c.4909+16G>A	ABCA3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1639573	NM_001089.3(ABCA3):c.4909+15C>T	ABCA3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2958169	NM_001089.3(ABCA3):c.4909+13C>A	ABCA3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 884332	NM_001089.3(ABCA3):c.4909+12C>G	ABCA3	Single nucleotide variant (intron variant)	Interstitial lung disease due to ABCA3 deficiency +2 more	GConflicting classifications of pathogenicity
Select item 2971679	NM_001089.3(ABCA3):c.4909+11G>A	ABCA3	Single nucleotide variant (intron 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 2895275	NM_001089.3(ABCA3):c.4909+9C>T	ABCA3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2761144	NM_001089.3(ABCA3):c.4909+8C>T	ABCA3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2986198	NM_001089.3(ABCA3):c.4905T>C (p.Phe1635=)	ABCA3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2736306	NM_001089.3(ABCA3):c.4899_4903dup (p.Phe1635Ter)	ABCA3 (F1635*)	Microsatellite (nonsense)	not provided	GPathogenic
Select item 1934163	NM_001089.3(ABCA3):c.4891G>A (p.Val1631Met)	ABCA3 (V1631M)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2699346	NM_001089.3(ABCA3):c.4890C>T (p.Phe1630=)	ABCA3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2789818	NM_001089.3(ABCA3):c.4884G>A (p.Lys1628=)	ABCA3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2984518	NM_001089.3(ABCA3):c.4881C>T (p.Phe1627=)	ABCA3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2880310	NM_001089.3(ABCA3):c.4872G>A (p.Leu1624=)	ABCA3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 884333	NM_001089.3(ABCA3):c.4870C>T (p.Leu1624=)	ABCA3	Single nucleotide variant (synonymous variant)	Interstitial lung disease due to ABCA3 deficiency +2 more	GConflicting classifications of pathogenicity
Select item 2978471	NM_001089.3(ABCA3):c.4869G>A (p.Ala1623=)	ABCA3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2847641	NM_001089.3(ABCA3):c.4869G>T (p.Ala1623=)	ABCA3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2783222	NM_001089.3(ABCA3):c.4869G>C (p.Ala1623=)	ABCA3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1339957	NM_001089.3(ABCA3):c.4868C>T (p.Ala1623Val)	ABCA3 (A1623V)	Single nucleotide variant (missense variant)	Hereditary pulmonary alveolar proteinosis +1 more	GUncertain significance
Select item 1743642	NM_001089.3(ABCA3):c.4860A>G (p.Gln1620=)	ABCA3	Single nucleotide variant (synonymous variant)	Hereditary pulmonary alveolar proteinosis +1 more	GLikely benign
Select item 2854988	NM_001089.3(ABCA3):c.4858C>T (p.Gln1620Ter)	ABCA3 (Q1620*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2777582	NM_001089.3(ABCA3):c.4857G>A (p.Gly1619=)	ABCA3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2906346	NM_001089.3(ABCA3):c.4845G>A (p.Val1615=)	ABCA3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1743519	NM_001089.3(ABCA3):c.4843G>A (p.Val1615Met)	ABCA3 (V1615M)	Single nucleotide variant (missense variant)	Hereditary pulmonary alveolar proteinosis +1 more	GUncertain significance
Select item 2985411	NM_001089.3(ABCA3):c.4824C>A (p.Gly1608=)	ABCA3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2889445	NM_001089.3(ABCA3):c.4821C>T (p.Ser1607=)	ABCA3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2961970	NM_001089.3(ABCA3):c.4815C>T (p.Phe1605=)	ABCA3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2983841	NM_001089.3(ABCA3):c.4806G>A (p.Lys1602=)	ABCA3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2885192	NM_001089.3(ABCA3):c.4803C>T (p.Leu1601=)	ABCA3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2957784	NM_001089.3(ABCA3):c.4758C>A (p.Ile1586=)	ABCA3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2713908	NM_001089.3(ABCA3):c.4746C>T (p.Thr1582=)	ABCA3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2808158	NM_001089.3(ABCA3):c.4743C>T (p.Cys1581=)	ABCA3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2902815	NM_001089.3(ABCA3):c.4719-4A>C	ABCA3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2990068	NM_001089.3(ABCA3):c.4719-6C>T	ABCA3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2836585	NM_001089.3(ABCA3):c.4719-7_4719-6del	ABCA3	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2972979	NM_001089.3(ABCA3):c.4719-13G>A	ABCA3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2996651	NM_001089.3(ABCA3):c.4719-14C>G	ABCA3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2954713	NM_001089.3(ABCA3):c.4719-14C>T	ABCA3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2819411	NM_001089.3(ABCA3):c.4719-19G>A	ABCA3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2783583	NM_001089.3(ABCA3):c.4718+20G>C	ABCA3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2962060	NM_001089.3(ABCA3):c.4718+19G>T	ABCA3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2874527	NM_001089.3(ABCA3):c.4718+19G>C	ABCA3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2960007	NM_001089.3(ABCA3):c.4718+16G>C	ABCA3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3000863	NM_001089.3(ABCA3):c.4718+12del	ABCA3	Deletion (intron variant)	not provided	GLikely benign
Select item 2828937	NM_001089.3(ABCA3):c.4718+7C>T	ABCA3	Single nucleotide variant (intron variant)	not provided	GLikely benign

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