"PreventionGenetics, part of Exact Sciences"[submitter] AND "TBR1"[gen - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2630044	NM_006593.4(TBR1):c.361A>G (p.Ser121Gly)	TBR1 (S121G)	Single nucleotide variant (missense variant)	TBR1-related disorder	GUncertain significance
Select item 3041633	NM_006593.4(TBR1):c.459C>T (p.Thr153=)	TBR1	Single nucleotide variant (synonymous variant)	TBR1-related disorder	GLikely benign
Select item 3029412	NM_006593.4(TBR1):c.465A>C (p.Gly155=)	TBR1	Single nucleotide variant (synonymous variant)	TBR1-related disorder	GLikely benign
Select item 2632268	NM_006593.4(TBR1):c.759del (p.Phe253fs)	TBR1 (F253fs)	Deletion (frameshift variant)	TBR1-related disorder	GLikely pathogenic
Select item 2635421	NM_006593.4(TBR1):c.970-3C>G	TBR1	Single nucleotide variant (intron variant)	TBR1-related disorder	GLikely pathogenic
Select item 588193	NM_006593.4(TBR1):c.1134A>G (p.Thr378=)	TBR1	Single nucleotide variant (synonymous variant)	Autism, susceptibility to, 5 +3 more	GBenign
Select item 778013	NM_006593.4(TBR1):c.1161T>C (p.Phe387=)	TBR1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 3046449	NM_006593.4(TBR1):c.1363C>T (p.Pro455Ser)	TBR1 (P455S)	Single nucleotide variant (missense variant)	TBR1-related disorder	GUncertain significance
Select item 3041132	NM_006593.4(TBR1):c.1398G>C (p.Gly466=)	TBR1	Single nucleotide variant (synonymous variant)	TBR1-related disorder	GLikely benign
Select item 589337	NM_006593.4(TBR1):c.1605G>A (p.Pro535=)	LOC129935026, TBR1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 3050705	NM_006593.4(TBR1):c.1812C>G (p.Ala604=)	TBR1	Single nucleotide variant (synonymous variant)	TBR1-related disorder	GLikely benign
Select item 3043904	NM_006593.4(TBR1):c.*3C>G	TBR1	Single nucleotide variant (3 prime UTR variant)	TBR1-related disorder	GLikely benign