C1848533[trait identifier] AND "Counsyl"[submitter] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 556573	NM_000370.3(TTPA):c.807T>A (p.Tyr269Ter)	TTPA (Y269*)	Single nucleotide variant (nonsense)	Familial isolated deficiency of vitamin E	GUncertain significance
Select item 554637	NM_000370.3(TTPA):c.663+10_663+11insAC	TTPA	Insertion (intron variant)	Familial isolated deficiency of vitamin E	GLikely benign
Select item 65597	NM_000370.3(TTPA):c.661C>T (p.Arg221Trp)	TTPA (R221W)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 557235	NM_000370.3(TTPA):c.557C>A (p.Ser186Ter)	TTPA (S186*)	Single nucleotide variant (nonsense)	Familial isolated deficiency of vitamin E	GLikely pathogenic
Select item 557815	NM_000370.3(TTPA):c.552G>T (p.Thr184=)	TTPA	Single nucleotide variant (synonymous variant)	Familial isolated deficiency of vitamin E	GUncertain significance
Select item 188951	NM_000370.3(TTPA):c.487del (p.Trp163fs)	TTPA (W163fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 371663	NM_000370.3(TTPA):c.441del (p.Glu148fs)	TTPA (E148fs)	Deletion (frameshift variant)	Familial isolated deficiency of vitamin E	GLikely pathogenic
Select item 9141	NM_000370.3(TTPA):c.400C>T (p.Arg134Ter)	TTPA (R134*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 65591	NM_000370.3(TTPA):c.358G>A (p.Ala120Thr)	TTPA (A120T)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 370354	NM_000370.3(TTPA):c.313A>T (p.Arg105Ter)	TTPA (R105*)	Single nucleotide variant (nonsense)	Familial isolated deficiency of vitamin E	GLikely pathogenic
Select item 556751	NM_000370.3(TTPA):c.254_259dup (p.Asp86_Leu87insProAsp)	TTPA	Duplication (inframe_insertion)	Familial isolated deficiency of vitamin E	GUncertain significance
Select item 551293	NM_000370.3(TTPA):c.227_229delinsATT (p.Trp76_Arg77delinsTyrTer)	TTPA	Indel (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 370950	NM_000370.3(TTPA):c.205-2A>G	TTPA	Single nucleotide variant (intron variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 65589	NM_000370.3(TTPA):c.175C>T (p.Arg59Trp)	TTPA (R59W)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 550204	NM_000370.3(TTPA):c.88_118del (p.Ala30fs)	TTPA (A30fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 558725	NM_000370.3(TTPA):c.83_105del (p.Leu28fs)	TTPA (L28fs)	Deletion (frameshift variant)	Familial isolated deficiency of vitamin E	GLikely pathogenic
Select item 370311	NM_000370.3(TTPA):c.13C>T (p.Arg5Ter)	TTPA (R5*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 371454	NM_000370.3(TTPA):c.2T>A (p.Met1Lys)	TTPA (M1K)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 189186	NM_000370.3(TTPA):c.2T>C (p.Met1Thr)	TTPA (M1T)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 557555	NM_000370.3(TTPA):c.1A>T (p.Met1Leu)	TTPA (M1L)	Single nucleotide variant (missense variant +1 more)	Familial isolated deficiency of vitamin E +1 more	GPathogenic/Likely pathogenic
Select item 557866	NM_000370.3(TTPA):c.-1C>T	TTPA	Single nucleotide variant (5 prime UTR variant +1 more)	Familial isolated deficiency of vitamin E	GUncertain significance

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 21