"GeneDx"[submitter] AND "TTPA"[gene] - ClinVar

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Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 60364	GRCh38/hg38 8q12.3-21.11(chr8:62230636-73227786)x1	ADHFE1, ARFGEF1 +228 more	Copy number loss	See cases	GPathogenic
Select item 363557	NM_000370.3(TTPA):c.664-4T>G	TTPA	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1268629	NM_000370.3(TTPA):c.664-33C>T	TTPA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1706902	NM_000370.3(TTPA):c.664-63G>T	TTPA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1295990	NM_000370.3(TTPA):c.664-234T>C	TTPA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1686709	NM_000370.3(TTPA):c.663+153A>G	TTPA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1259067	NM_000370.3(TTPA):c.663+88G>A	TTPA	Single nucleotide variant (intron variant)	not provided	GBenign
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 1706895	NM_000370.3(TTPA):c.553-171A>G	TTPA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 9139	NM_000370.3(TTPA):c.513_514insTT (p.Thr172fs)	TTPA (T172fs)	Insertion (frameshift variant)	not provided +1 more	GPathogenic
Select item 363561	NM_000370.3(TTPA):c.452G>A (p.Arg151Gln)	TTPA (R151Q)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
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 92872	NM_000370.3(TTPA):c.359-3del	TTPA	Deletion (intron variant)	not provided +2 more	GBenign
Select item 1676859	NM_000370.3(TTPA):c.205-69T>G	TTPA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1676858	NM_000370.3(TTPA):c.205-88T>G	TTPA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1271597	NM_000370.3(TTPA):c.205-210G>A	TTPA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1295608	NM_000370.3(TTPA):c.204+146G>A	TTPA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1256873	NM_000370.3(TTPA):c.204+49C>G	TTPA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1712111	NM_000370.3(TTPA):c.184G>T (p.Asp62Tyr)	TTPA (D62Y)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 289494	NM_000370.3(TTPA):c.24C>G (p.Pro8=)	TTPA	Single nucleotide variant (synonymous variant)	Familial isolated deficiency of vitamin E +2 more	GBenign
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 1232347	NC_000008.11:g.63086297del	TTPA	Deletion (genic upstream transcript variant)	not provided	GBenign
Select item 1230362	NC_000008.11:g.63086366del	TTPA	Deletion (genic upstream transcript variant)	not provided	GBenign

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Items: 23