NKX2-1-AS1[gene] - ClinVar

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Items: 53

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59932	GRCh38/hg38 14q11.2-21.1(chr14:20000611-38984415)x3	LOC130055392, LOC130055393 +780 more	Copy number gain	See cases	GPathogenic
Select item 155119	GRCh38/hg38 14q11.2-21.2(chr14:20022693-44093672)x3	ABHD4, ACIN1 +814 more	Copy number gain	See cases	GPathogenic
Select item 155681	GRCh38/hg38 14q11.2-21.3(chr14:20043513-48642042)x3	OR10G2, OR10G3 +859 more	Copy number gain	See cases	GPathogenic
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC126862060, LOC126862061 +3282 more	Copy number gain	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	LOC125048449, LOC125048450 +3277 more	Copy number gain	See cases	GPathogenic
Select item 57745	GRCh38/hg38 14q11.2-21.2(chr14:20196945-45284802)x1	LOC112214170, LOC112214171 +840 more	Copy number loss	See cases	GPathogenic
Select item 57750	GRCh38/hg38 14q11.2-21.1(chr14:23548960-41983402)x1	MIR4503, MIR624 +399 more	Copy number loss	See cases	GPathogenic
Select item 146008	GRCh38/hg38 14q12-21.1(chr14:30382554-37712341)x1	AKAP6, AP4S1 +179 more	Copy number loss	See cases	GPathogenic
Select item 58523	GRCh38/hg38 14q12-21.2(chr14:30670314-44990595)x3	INSM2, KLHL28 +237 more	Copy number gain	See cases	GPathogenic
Select item 154996	GRCh38/hg38 14q12-21.2(chr14:30792271-44685131)x1	LOC126861917, LOC126861918 +225 more	Copy number loss	See cases	GPathogenic
Select item 154047	GRCh38/hg38 14q13.1-21.1(chr14:33880412-42359485)x1	BAZ1A, BAZ1A-AS1 +156 more	Copy number loss	See cases	GPathogenic
Select item 148775	GRCh38/hg38 14q13.2-21.2(chr14:35068276-43994777)x1	BRMS1L, CLEC14A +113 more	Copy number loss	See cases	GPathogenic
Select item 147567	GRCh38/hg38 14q13.2-13.3(chr14:35514078-36814016)x1	BRMS1L, INSM2 +26 more	Copy number loss	See cases	GPathogenic
Select item 154357	GRCh38/hg38 14q13.3(chr14:36191711-37228500)x3	LOC108281111, LOC110120901 +19 more	Copy number gain	See cases	GPathogenic
Select item 57775	GRCh38/hg38 14q13.3-21.1(chr14:36434568-41102476)x1	CLEC14A, FBXO33 +62 more	Copy number loss	See cases	GPathogenic
Select item 150975	GRCh38/hg38 14q13.3(chr14:36484306-36677450)x3	LOC108281111, LOC110121326 +6 more	Copy number gain	See cases	GLikely benign
Select item 635557	NM_001079668.3(NKX2-1):c.(?_-1)_*(1206_?)del	NKX2-1, NKX2-1-AS1 +1 more	Deletion	Benign hereditary chorea +1 more	GPathogenic
Select item 986074	NM_001079668.3(NKX2-1):c.170_182del (p.Val57fs)	NKX2-1, NKX2-1-AS1 +1 more (V27fs +1 more)	Deletion (frameshift variant)	Inborn genetic diseases	GPathogenic
Select item 1957665	NM_001079668.3(NKX2-1):c.111C>G (p.His37Gln)	NKX2-1, NKX2-1-AS1 +1 more (H37Q +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2226941	NM_001079668.3(NKX2-1):c.110A>C (p.His37Pro)	NKX2-1, NKX2-1-AS1 +1 more (H37P +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2382560	NM_001079668.3(NKX2-1):c.107A>C (p.Lys36Thr)	NKX2-1, NKX2-1-AS1 +1 more (K36T +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1186928	NM_001079668.3(NKX2-1):c.78-48C>T	NKX2-1, NKX2-1-AS1 +1 more	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GLikely benign
Select item 803018	NM_001079668.3(NKX2-1):c.78-151A>G	NKX2-1, NKX2-1-AS1 +1 more	Single nucleotide variant (non-coding transcript variant +2 more)	Brain-lung-thyroid syndrome	GLikely benign
Select item 1333071	NM_001079668.3(NKX2-1):c.78-254T>C	NKX2-1, NKX2-1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1296646	NM_001079668.3(NKX2-1):c.77+314CT[9]	NKX2-1, NKX2-1-AS1	Microsatellite (intron variant)	not provided	GBenign
Select item 2919084	NM_001079668.3(NKX2-1):c.77+11C>A	NKX2-1, NKX2-1-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2811731	NM_001079668.3(NKX2-1):c.77+7C>A	NKX2-1, NKX2-1-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2154494	NM_001079668.3(NKX2-1):c.77+6A>T	NKX2-1, NKX2-1-AS1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1695665	NM_001079668.3(NKX2-1):c.69C>G (p.Gly23=)	NKX2-1, NKX2-1-AS1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1705916	NM_001079668.3(NKX2-1):c.67G>C (p.Gly23Arg)	NKX2-1, NKX2-1-AS1 (G23R)	Single nucleotide variant (missense variant)	Interstitial lung disease 2	GUncertain significance
Select item 3339885	NM_001079668.3(NKX2-1):c.43_64dup (p.Pro22fs)	NKX2-1, NKX2-1-AS1 (P22fs)	Duplication (frameshift variant)	Benign hereditary chorea	GPathogenic
Select item 1612305	NM_001079668.3(NKX2-1):c.63C>T (p.Ser21=)	NKX2-1, NKX2-1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 724056	NM_001079668.3(NKX2-1):c.45G>A (p.Ala15=)	NKX2-1, NKX2-1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 313147	NM_001079668.3(NKX2-1):c.29G>A (p.Arg10Gln)	NKX2-1-AS1, NKX2-1 (R10Q)	Single nucleotide variant (missense variant)	Brain-lung-thyroid syndrome +2 more	GBenign/Likely benign
Select item 1949253	NM_001079668.3(NKX2-1):c.27G>A (p.Ala9=)	NKX2-1, NKX2-1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3343627	NM_001079668.3(NKX2-1):c.25G>T (p.Ala9Ser)	NKX2-1, NKX2-1-AS1 (A9S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2188659	NM_001079668.3(NKX2-1):c.21G>A (p.Gly7=)	NKX2-1, NKX2-1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2199154	NM_001079668.3(NKX2-1):c.18T>A (p.Ser6Arg)	NKX2-1, NKX2-1-AS1 (S6R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2096653	NM_001079668.3(NKX2-1):c.17G>A (p.Ser6Asn)	NKX2-1, NKX2-1-AS1 (S6N)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3368009	NM_001079668.3(NKX2-1):c.8C>A (p.Ser3Tyr)	NKX2-1, NKX2-1-AS1 (S3Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1636621	NM_001079668.3(NKX2-1):c.8C>T (p.Ser3Phe)	NKX2-1, NKX2-1-AS1 (S3F)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2805029	NM_001079668.3(NKX2-1):c.7T>C (p.Ser3Pro)	NKX2-1-AS1, NKX2-1 (S3P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1920499	NM_001079668.3(NKX2-1):c.5G>A (p.Trp2Ter)	NKX2-1, NKX2-1-AS1 (W2*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2138242	NM_001079668.3(NKX2-1):c.2T>C (p.Met1Thr)	NKX2-1, NKX2-1-AS1 (M1T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 430345	NM_001079668.3(NKX2-1):c.1A>T (p.Met1Leu)	NKX2-1, NKX2-1-AS1 (M1L)	Single nucleotide variant (missense variant +1 more)	not provided	GPathogenic
Select item 2434369	NM_001079668.3(NKX2-1):c.-2C>A	NKX2-1-AS1, NKX2-1	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 313148	NM_001079668.3(NKX2-1):c.-71C>A	NKX2-1, NKX2-1-AS1	Single nucleotide variant (5 prime UTR variant)	Brain-lung-thyroid syndrome +1 more	GUncertain significance
Select item 313149	NM_001079668.3(NKX2-1):c.-85G>T	NKX2-1, NKX2-1-AS1	Single nucleotide variant (5 prime UTR variant)	Brain-lung-thyroid syndrome +2 more	GBenign
Select item 1242513	NC_000014.9:g.36520391A>G	NKX2-1, NKX2-1-AS1	Single nucleotide variant	not provided	GBenign
Select item 1214470	NC_000014.9:g.36520452C>A	NKX2-1, NKX2-1-AS1	Single nucleotide variant	not provided	GLikely benign
Select item 1201803	NC_000014.9:g.36520452_36520453insA	NKX2-1, NKX2-1-AS1	Insertion	not provided	GLikely benign
Select item 1196523	NC_000014.9:g.36520465G>T	NKX2-1, NKX2-1-AS1	Single nucleotide variant	not provided	GLikely benign
Select item 1250790	NC_000014.9:g.36520491G>T	NKX2-1, NKX2-1-AS1	Single nucleotide variant	not provided	GBenign

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Items: 53