Related gene-specific medical variations for Gene (Select 100506237) - ClinVar

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Links from Gene

Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 2805029	NM_001079668.3(NKX2-1):c.7T>C (p.Ser3Pro)	NKX2-1, NKX2-1-AS1 (S3P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 1186928	NM_001079668.3(NKX2-1):c.78-48C>T	NKX2-1-AS1, NKX2-1 +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 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 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 313149	NM_001079668.3(NKX2-1):c.-85G>T	NKX2-1, NKX2-1-AS1	Single nucleotide variant (5 prime UTR variant)	not provided +2 more	GBenign
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 313147	NM_001079668.3(NKX2-1):c.29G>A (p.Arg10Gln)	NKX2-1, NKX2-1-AS1 (R10Q)	Single nucleotide variant (missense variant)	Brain-lung-thyroid syndrome +2 more	GBenign/Likely benign

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Links from Gene

Items: 27