"GeneDx"[submitter] AND "TIA1"[gene] - ClinVar

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Items: 57

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 41480	NM_022173.4(TIA1):c.1150G>A (p.Glu384Lys)	TIA1 (E384K +11 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Welander distal myopathy +1 more	GPathogenic
Select item 458836	NM_022173.4(TIA1):c.1122G>A (p.Gln374=)	TIA1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 448688	NM_022173.4(TIA1):c.1086G>A (p.Pro362=)	TIA1	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GBenign/Likely benign
Select item 261567	NM_022173.4(TIA1):c.1070A>G (p.Asn357Ser)	TIA1 (N357S +11 more)	Single nucleotide variant (missense variant +1 more)	Welander distal myopathy +3 more	GConflicting classifications of pathogenicity
Select item 1239779	NM_022173.4(TIA1):c.1034+149dup	TIA1	Duplication (intron variant)	not provided	GBenign
Select item 1230896	NM_022173.4(TIA1):c.1034+120C>T	TIA1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 261569	NM_022173.4(TIA1):c.953A>G (p.Gln318Arg)	TIA1 (Q318R +11 more)	Single nucleotide variant (missense variant +1 more)	Welander distal myopathy +2 more	GBenign/Likely benign
Select item 458843	NM_022173.4(TIA1):c.947C>G (p.Ala316Gly)	TIA1 (A316G +11 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 1226160	NM_022173.4(TIA1):c.889-149T>G	TIA1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1300500	NM_022173.4(TIA1):c.889-152T>G	TIA1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1300522	NM_022173.4(TIA1):c.889-158_889-157insG	TIA1	Insertion (intron variant)	not provided	GLikely benign
Select item 1234557	NM_022173.4(TIA1):c.889-157T>G	TIA1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1698302	NM_022173.4(TIA1):c.889-174T>C	TIA1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1712166	NM_022173.4(TIA1):c.888+180A>T	TIA1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 575375	NM_022173.4(TIA1):c.880G>A (p.Val294Met)	TIA1 (V294M +8 more)	Single nucleotide variant (missense variant +1 more)	Welander distal myopathy +1 more	GUncertain significance
Select item 3365234	NM_022173.4(TIA1):c.857A>C (p.Glu286Ala)	TIA1 (E146A +8 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1296192	NM_022173.4(TIA1):c.765-103_765-97del	TIA1	Deletion (intron variant)	not provided	GBenign
Select item 1698301	NM_022173.4(TIA1):c.765-104G>A	TIA1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1255023	NM_022173.4(TIA1):c.765-166A>G	TIA1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1296196	NM_022173.4(TIA1):c.764+175A>G	TIA1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1722856	NM_022173.4(TIA1):c.731G>A (p.Arg244Gln)	TIA1 (R104Q +8 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1043578	NM_022173.4(TIA1):c.683A>T (p.Gln228Leu)	TIA1 (Q152L +8 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1280623	NM_022173.4(TIA1):c.475-310C>A	TIA1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1264367	NM_022173.4(TIA1):c.474+284C>G	TIA1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1334363	NM_022173.4(TIA1):c.474+184C>T	TIA1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1276146	NM_022173.4(TIA1):c.474+81del	TIA1	Deletion (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1296198	NM_022173.4(TIA1):c.399-23C>T	TIA1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1295766	NM_022173.4(TIA1):c.398+73C>G	TIA1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1266792	NM_022173.4(TIA1):c.311-250G>A	TIA1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1233039	NM_022173.4(TIA1):c.310+284T>C	TIA1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1267240	NM_022173.4(TIA1):c.277+58G>A	TIA1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1687651	NM_022173.4(TIA1):c.277+27A>G	TIA1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1308252	NM_022173.4(TIA1):c.230A>G (p.Lys77Arg)	TIA1 (K12R +4 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1687648	NM_022173.4(TIA1):c.223-34G>A	TIA1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1180327	NM_022173.4(TIA1):c.223-136G>A	TIA1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1258846	NM_022173.4(TIA1):c.222+279G>A	TIA1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1259832	NM_022173.4(TIA1):c.222+260G>A	TIA1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1295588	NM_022173.4(TIA1):c.222+148A>G	TIA1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1235488	NM_022173.4(TIA1):c.222+89_222+90dup	TIA1	Duplication (intron variant)	not provided	GBenign
Select item 1221164	NM_022173.4(TIA1):c.222+89dup	TIA1	Duplication (intron variant)	not provided	GBenign
Select item 1300410	NM_022173.4(TIA1):c.222+103del	TIA1	Deletion (intron variant)	not provided	GLikely benign
Select item 1268620	NM_022173.4(TIA1):c.124-290dup	TIA1	Duplication (intron variant)	not provided	GBenign
Select item 1687693	NM_022173.4(TIA1):c.123+94T>C	TIA1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1241447	NM_022173.4(TIA1):c.123+32dup	TIA1	Duplication (intron variant)	not provided	GBenign
Select item 939726	NM_022173.4(TIA1):c.98G>T (p.Cys33Phe)	TIA1 (C33F)	Single nucleotide variant (missense variant +3 more)	not provided +1 more	GUncertain significance
Select item 2663298	NM_022173.4(TIA1):c.27-3C>T	TIA1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1295764	NM_022173.4(TIA1):c.27-40dup	TIA1	Duplication (intron variant)	not provided	GBenign
Select item 1342786	NM_022173.4(TIA1):c.26+122C>T	TIA1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3372426	NM_022173.4(TIA1):c.10G>C (p.Glu4Gln)	TIA1 (E4Q)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 424051	NM_022173.4(TIA1):c.1A>G (p.Met1Val)	TIA1 (M1V)	Single nucleotide variant (missense variant +4 more)	not provided	GUncertain significance
Select item 3340977	NM_022173.4(TIA1):c.-13G>A	TIA1	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 1183303	NM_022173.4(TIA1):c.-137C>T	TIA1	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GBenign
Select item 1342115	NM_022173.4(TIA1):c.-158C>G	TIA1	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GLikely benign
Select item 1687663	NM_022173.4(TIA1):c.-166C>T	TIA1	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 1289037	NM_022037.3(TIA1):c.-265A>C	TIA1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1290358	NC_000002.12:g.70248801T>G	TIA1	Single nucleotide variant	not provided	GBenign
Select item 1326160	NC_000002.12:g.70248830T>C	TIA1	Single nucleotide variant	not provided	GLikely benign

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Items: 57