"Ambry Genetics"[submitter] AND "LOC130065680"[gene] - ClinVar

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Items: 31

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3223112	NM_003098.3(SNTA1):c.136G>A (p.Asp46Asn)	LOC130065680, SNTA1 (D46N)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1770790	NM_003098.3(SNTA1):c.135C>T (p.Ala45=)	LOC130065680, SNTA1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1770323	NM_003098.3(SNTA1):c.133G>A (p.Ala45Thr)	SNTA1, LOC130065680 (A45T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 381103	NM_003098.3(SNTA1):c.129C>T (p.Ser43=)	LOC130065680, SNTA1	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 190903	NM_003098.3(SNTA1):c.128G>A (p.Ser43Asn)	LOC130065680, SNTA1 (S43N)	Single nucleotide variant (missense variant)	Long QT syndrome +4 more	GConflicting classifications of pathogenicity
Select item 3223108	NM_003098.3(SNTA1):c.122C>T (p.Thr41Ile)	LOC130065680, SNTA1 (T41I)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 894981	NM_003098.3(SNTA1):c.115G>A (p.Val39Met)	LOC130065680, SNTA1 (V39M)	Single nucleotide variant (missense variant)	Long QT syndrome +2 more	GUncertain significance
Select item 519326	NM_003098.3(SNTA1):c.114C>T (p.Asp38=)	LOC130065680, SNTA1	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 449280	NM_003098.3(SNTA1):c.114C>A (p.Asp38Glu)	LOC130065680, SNTA1 (D38E)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 2609472	NM_003098.3(SNTA1):c.112G>A (p.Asp38Asn)	LOC130065680, SNTA1 (D38N)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 496194	NM_003098.3(SNTA1):c.101G>A (p.Ser34Asn)	LOC130065680, SNTA1 (S34N)	Single nucleotide variant (missense variant)	Long QT syndrome 12 +3 more	GUncertain significance
Select item 2333972	NM_003098.3(SNTA1):c.98T>C (p.Leu33Pro)	LOC130065680, SNTA1 (L33P)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1767157	NM_003098.3(SNTA1):c.94C>A (p.Leu32Met)	LOC130065680, SNTA1 (L32M)	Single nucleotide variant (missense variant)	Long QT syndrome +1 more	GUncertain significance
Select item 2179883	NM_003098.3(SNTA1):c.77A>G (p.Glu26Gly)	LOC130065680, SNTA1 (E26G)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1899259	NM_003098.3(SNTA1):c.75C>T (p.Gly25=)	LOC130065680, SNTA1	Single nucleotide variant (synonymous variant)	Long QT syndrome +1 more	GLikely benign
Select item 190933	NM_003098.3(SNTA1):c.70G>A (p.Gly24Ser)	LOC130065680, SNTA1 (G24S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 3167061	NM_003098.3(SNTA1):c.67G>T (p.Ala23Ser)	LOC130065680, SNTA1 (A23S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2629505	NM_003098.3(SNTA1):c.62C>T (p.Ser21Leu)	LOC130065680, SNTA1 (S21L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GConflicting classifications of pathogenicity
Select item 942836	NM_003098.3(SNTA1):c.60C>T (p.Gly20=)	LOC130065680, SNTA1	Single nucleotide variant (synonymous variant)	Long QT syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1549124	NM_003098.3(SNTA1):c.57G>T (p.Ala19=)	LOC130065680, SNTA1	Single nucleotide variant (synonymous variant)	Long QT syndrome +1 more	GLikely benign
Select item 516868	NM_003098.3(SNTA1):c.51C>T (p.Ala17=)	LOC130065680, SNTA1	Single nucleotide variant (synonymous variant)	Long QT syndrome +2 more	GLikely benign
Select item 1739539	NM_003098.3(SNTA1):c.42G>A (p.Glu14=)	LOC130065680, SNTA1	Single nucleotide variant (synonymous variant)	Long QT syndrome +1 more	GLikely benign
Select item 190932	NM_003098.3(SNTA1):c.40G>A (p.Glu14Lys)	LOC130065680, SNTA1 (E14K)	Single nucleotide variant (missense variant)	Long QT syndrome 12 +4 more	GConflicting classifications of pathogenicity
Select item 1134679	NM_003098.3(SNTA1):c.36G>C (p.Leu12=)	LOC130065680, SNTA1	Single nucleotide variant (synonymous variant)	Long QT syndrome +1 more	GLikely benign
Select item 3223119	NM_003098.3(SNTA1):c.33G>A (p.Gly11=)	LOC130065680, SNTA1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1727601	NM_003098.3(SNTA1):c.30C>G (p.Thr10=)	LOC130065680, SNTA1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1796173	NM_003098.3(SNTA1):c.27C>T (p.Arg9=)	LOC130065680, SNTA1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 264021	NM_003098.3(SNTA1):c.25C>T (p.Arg9Cys)	LOC130065680, SNTA1 (R9C)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 449133	NM_003098.3(SNTA1):c.23C>T (p.Pro8Leu)	LOC130065680, SNTA1 (P8L)	Single nucleotide variant (missense variant)	Long QT syndrome +2 more	GUncertain significance
Select item 699388	NM_003098.3(SNTA1):c.13A>C (p.Arg5=)	LOC130065680, SNTA1	Single nucleotide variant (synonymous variant)	Long QT syndrome +1 more	GLikely benign
Select item 519527	NM_003098.3(SNTA1):c.-3_6del (p.Met1_Ala2del)	LOC130065680, SNTA1	Deletion (inframe_deletion +1 more)	Cardiovascular phenotype	GUncertain significance

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Items: 31