C1970269[trait identifier] AND "Illumina Laboratory Services, Illumina - ClinVar

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Items: 36

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 313122	NM_001079668.3(NKX2-1):c.*820A>G	NKX2-1, SFTA3	Single nucleotide variant (3 prime UTR variant)	Brain-lung-thyroid syndrome +1 more	GUncertain significance
Select item 313123	NM_001079668.3(NKX2-1):c.*581del	NKX2-1, SFTA3	Deletion (3 prime UTR variant)	Brain-lung-thyroid syndrome +1 more	GLikely benign
Select item 313124	NM_001079668.3(NKX2-1):c.*579C>G	NKX2-1, SFTA3	Single nucleotide variant (3 prime UTR variant)	Benign hereditary chorea +1 more	GBenign
Select item 883820	NM_001079668.3(NKX2-1):c.*577C>T	NKX2-1, SFTA3	Single nucleotide variant (3 prime UTR variant)	Brain-lung-thyroid syndrome +1 more	GUncertain significance
Select item 313125	NM_001079668.3(NKX2-1):c.*544G>A	NKX2-1, SFTA3	Single nucleotide variant (3 prime UTR variant)	Benign hereditary chorea +1 more	GUncertain significance
Select item 883821	NM_001079668.3(NKX2-1):c.*536C>T	NKX2-1, SFTA3	Single nucleotide variant (3 prime UTR variant)	Brain-lung-thyroid syndrome +1 more	GUncertain significance
Select item 313126	NM_001079668.3(NKX2-1):c.*470A>G	NKX2-1, SFTA3	Single nucleotide variant (3 prime UTR variant)	Brain-lung-thyroid syndrome +1 more	GUncertain significance
Select item 313129	NM_001079668.3(NKX2-1):c.*460dup	NKX2-1, SFTA3	Duplication (3 prime UTR variant)	Brain-lung-thyroid syndrome +1 more	GUncertain significance
Select item 313127	NM_001079668.3(NKX2-1):c.459_460dup	NKX2-1, SFTA3	Duplication (3 prime UTR variant)	Brain-lung-thyroid syndrome +1 more	GUncertain significance
Select item 313128	NM_001079668.3(NKX2-1):c.*460del	NKX2-1, SFTA3	Deletion (3 prime UTR variant)	Brain-lung-thyroid syndrome +1 more	GUncertain significance
Select item 313130	NM_001079668.3(NKX2-1):c.*436A>C	NKX2-1, SFTA3	Single nucleotide variant (3 prime UTR variant)	Benign hereditary chorea +1 more	GBenign
Select item 313131	NM_001079668.3(NKX2-1):c.*292dup	NKX2-1, SFTA3	Duplication (3 prime UTR variant)	not provided +2 more	GBenign
Select item 313132	NM_001079668.3(NKX2-1):c.*210dup	NKX2-1, SFTA3	Duplication (3 prime UTR variant)	Benign hereditary chorea +2 more	GConflicting classifications of pathogenicity
Select item 313133	NM_001079668.3(NKX2-1):c.*210T>A	NKX2-1, SFTA3	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign
Select item 313134	NM_001079668.3(NKX2-1):c.*209T>A	NKX2-1, SFTA3	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign
Select item 313136	NM_001079668.3(NKX2-1):c.185_186dup	NKX2-1, SFTA3	Duplication (3 prime UTR variant)	Brain-lung-thyroid syndrome +1 more	GUncertain significance
Select item 313135	NM_001079668.3(NKX2-1):c.*186dup	NKX2-1, SFTA3	Duplication (3 prime UTR variant)	Brain-lung-thyroid syndrome +1 more	GUncertain significance
Select item 881936	NM_001079668.3(NKX2-1):c.*179T>C	NKX2-1, SFTA3	Single nucleotide variant (3 prime UTR variant)	Benign hereditary chorea +1 more	GBenign
Select item 313137	NM_001079668.3(NKX2-1):c.*14C>T	NKX2-1, SFTA3	Single nucleotide variant (3 prime UTR variant)	Benign hereditary chorea +1 more	GLikely benign
Select item 313138	NM_001079668.3(NKX2-1):c.1200C>T (p.Thr400=)	NKX2-1, SFTA3	Single nucleotide variant (synonymous variant)	Brain-lung-thyroid syndrome +2 more	GConflicting classifications of pathogenicity
Select item 487553	NM_001079668.3(NKX2-1):c.1106C>T (p.Ala369Val)	NKX2-1, SFTA3 (A339V +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 313140	NM_001079668.3(NKX2-1):c.1093G>T (p.Ala365Ser)	NKX2-1, SFTA3 (A365S +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 313141	NM_001079668.3(NKX2-1):c.925G>T (p.Ala309Ser)	NKX2-1, SFTA3 (A309S +1 more)	Single nucleotide variant (missense variant)	Brain-lung-thyroid syndrome +1 more	GUncertain significance
Select item 883116	NM_001079668.3(NKX2-1):c.918G>T (p.Ala306=)	NKX2-1, SFTA3	Single nucleotide variant (synonymous variant)	Benign hereditary chorea +1 more	GUncertain significance
Select item 883117	NM_001079668.3(NKX2-1):c.911C>A (p.Ala304Asp)	SFTA3, NKX2-1 (A274D +1 more)	Single nucleotide variant (missense variant)	Benign hereditary chorea +1 more	GUncertain significance
Select item 313142	NM_001079668.3(NKX2-1):c.816C>T (p.Thr272=)	NKX2-1, SFTA3	Single nucleotide variant (synonymous variant)	Brain-lung-thyroid syndrome +1 more	GUncertain significance
Select item 883893	NM_001079668.3(NKX2-1):c.786C>T (p.Asp262=)	NKX2-1, SFTA3	Single nucleotide variant (synonymous variant)	Benign hereditary chorea +1 more	GUncertain significance
Select item 313143	NM_001079668.3(NKX2-1):c.657G>A (p.Pro219=)	NKX2-1, SFTA3	Single nucleotide variant (synonymous variant)	NKX2-1-related condition +2 more	GLikely benign
Select item 1801521	NM_001079668.3(NKX2-1):c.626G>C (p.Arg209Pro)	NKX2-1, SFTA3 (R179P +1 more)	Single nucleotide variant (missense variant)	Hereditary ataxia +2 more	GPathogenic/Likely pathogenic
Select item 313144	NM_001079668.3(NKX2-1):c.535G>T (p.Val179Leu)	SFTA3, NKX2-1 (V179L +1 more)	Single nucleotide variant (missense variant)	Benign hereditary chorea +1 more	GBenign
Select item 313145	NM_001079668.3(NKX2-1):c.435C>G (p.Gly145=)	NKX2-1, SFTA3	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 313146	NM_001079668.3(NKX2-1):c.201G>A (p.Pro67=)	NKX2-1, SFTA3	Single nucleotide variant (synonymous variant)	Benign hereditary chorea +1 more	GUncertain significance
Select item 695624	NM_001079668.3(NKX2-1):c.190C>A (p.Leu64Ile)	NKX2-1, SFTA3 (L34I +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
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
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)	not provided +2 more	GBenign

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Items: 36