21[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58594	GRCh38/hg38 16p13.3-13.13(chr16:23141-11296695)x3	LOC112340388, LOC112441449 +821 more	Copy number gain	See cases	GPathogenic
Select item 58595	GRCh38/hg38 16p13.3(chr16:29941-2560460)x3	ABCA3, AMDHD2 +356 more	Copy number gain	See cases	GPathogenic
Select item 150284	GRCh38/hg38 16p13.3-13.12(chr16:43732-13326806)x3	OR1F1, OR2C1 +916 more	Copy number gain	See cases	GPathogenic
Select item 147509	GRCh38/hg38 16p13.3(chr16:46766-4247185)x3	LOC130058195, LOC130058196 +556 more	Copy number gain	See cases	GPathogenic
Select item 144298	GRCh38/hg38 16p13.3-13.13(chr16:46766-11525516)x3	RMI2, RNF151 +842 more	Copy number gain	See cases	GPathogenic
Select item 58597	GRCh38/hg38 16p13.3(chr16:46766-3214623)x3	ARHGDIG, ATP6V0C +482 more	Copy number gain	See cases	GPathogenic
Select item 155643	GRCh38/hg38 16p13.3-13.11(chr16:666662-15743104)x3	LOC130058340, LOC130058341 +925 more	Copy number gain	See cases	GPathogenic
Select item 495325	NC_000016.10:g.2077605_2284389dup	ABCA3, BRICD5 +44 more	Duplication	Endometrial carcinoma	GUncertain significance
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 2020147	NM_001089.3(ABCA3):c.5109dup (p.Arg1704fs)	ABCA3 (R1704fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 1745412	NM_001089.3(ABCA3):c.5110C>T (p.Arg1704Ter)	ABCA3 (R1704*)	Single nucleotide variant (nonsense)	Hereditary pulmonary alveolar proteinosis	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)	not specified +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 318391	NM_001089.3(ABCA3):c.5098G>A (p.Ala1700Thr)	ABCA3 (A1700T)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
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 888547	NM_001089.3(ABCA3):c.5090C>T (p.Pro1697Leu)	ABCA3 (P1697L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
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 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 2736409	NM_001089.3(ABCA3):c.5076C>T (p.Phe1692=)	ABCA3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2553645	NM_001089.3(ABCA3):c.5057A>G (p.Glu1686Gly)	ABCA3 (E1686G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1745052	NM_001089.3(ABCA3):c.5053C>G (p.Leu1685Val)	ABCA3 (L1685V)	Single nucleotide variant (missense variant)	Hereditary pulmonary alveolar proteinosis	GUncertain significance
Select item 2182472	NM_001089.3(ABCA3):c.5052G>T (p.Ser1684=)	ABCA3	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1745046	NM_001089.3(ABCA3):c.5052G>A (p.Ser1684=)	ABCA3	Single nucleotide variant (synonymous variant)	Hereditary pulmonary alveolar proteinosis +1 more	GLikely benign
Select item 2536503	NM_001089.3(ABCA3):c.5048T>C (p.Ile1683Thr)	ABCA3 (I1683T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 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 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)	not provided	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 1186598	NM_001089.3(ABCA3):c.4984-92C>G	ABCA3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1226236	NM_001089.3(ABCA3):c.4984-202C>G	ABCA3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1271853	NM_001089.3(ABCA3):c.4984-313C>G	ABCA3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1218256	NM_001089.3(ABCA3):c.4983+257G>A	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 816678	NM_001089.3(ABCA3):c.4979C>T (p.Ala1660Val)	ABCA3 (A1660V)	Single nucleotide variant (missense variant)	Interstitial lung disease due to ABCA3 deficiency	GUncertain significance
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 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 1744367	NM_001089.3(ABCA3):c.4959G>A (p.Pro1653=)	ABCA3	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2535438	NM_001089.3(ABCA3):c.4951C>A (p.His1651Asn)	ABCA3 (H1651N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 1744075	NM_001089.3(ABCA3):c.4915G>A (p.Val1639Ile)	ABCA3 (V1639I)	Single nucleotide variant (missense variant)	Hereditary pulmonary alveolar proteinosis	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

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