"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "SIPA1L3"[g - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2649780	NM_015073.3(SIPA1L3):c.38A>G (p.Asp13Gly)	SIPA1L3 (D13G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2054669	NM_015073.3(SIPA1L3):c.163GCCACC[4] (p.55AT[4])	SIPA1L3	Microsatellite (inframe_deletion)	not provided	GConflicting classifications of pathogenicity
Select item 2672761	NM_015073.3(SIPA1L3):c.216C>T (p.Pro72=)	SIPA1L3	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2068612	NM_015073.3(SIPA1L3):c.542C>T (p.Ala181Val)	SIPA1L3 (A181V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2649781	NM_015073.3(SIPA1L3):c.751A>T (p.Met251Leu)	SIPA1L3 (M251L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 682036	NM_015073.3(SIPA1L3):c.848C>T (p.Ala283Val)	SIPA1L3 (A283V)	Single nucleotide variant (missense variant)	SIPA1L3-related condition +1 more	GBenign/Likely benign
Select item 2649782	NM_015073.3(SIPA1L3):c.1467C>G (p.Pro489=)	SIPA1L3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1565105	NM_015073.3(SIPA1L3):c.1665+5G>C	SIPA1L3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2649783	NM_015073.3(SIPA1L3):c.2751T>C (p.Ile917=)	SIPA1L3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1544927	NM_015073.3(SIPA1L3):c.2830T>C (p.Ser944Pro)	SIPA1L3 (S944P)	Single nucleotide variant (missense variant)	SIPA1L3-related condition +1 more	GBenign/Likely benign
Select item 2649784	NM_015073.3(SIPA1L3):c.3363C>A (p.Pro1121=)	SIPA1L3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 774255	NM_015073.3(SIPA1L3):c.3732G>A (p.Pro1244=)	SIPA1L3	Single nucleotide variant (synonymous variant)	SIPA1L3-related condition +1 more	GBenign/Likely benign
Select item 789667	NM_015073.3(SIPA1L3):c.4051G>A (p.Ala1351Thr)	SIPA1L3 (A1351T)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 1176708	NM_015073.3(SIPA1L3):c.4461T>C (p.Phe1487=)	SIPA1L3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1879435	NM_015073.3(SIPA1L3):c.4528_4530del (p.Ile1510del)	SIPA1L3 (I1510del)	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 1012443	NM_015073.3(SIPA1L3):c.4776C>T (p.His1592=)	SIPA1L3	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1879436	NM_015073.3(SIPA1L3):c.4809T>C (p.Pro1603=)	SIPA1L3	Single nucleotide variant (synonymous variant)	SIPA1L3-related condition +1 more	GLikely benign
Select item 1318216	NM_015073.3(SIPA1L3):c.4812C>T (p.Ala1604=)	SIPA1L3	Single nucleotide variant (synonymous variant)	SIPA1L3-related condition +1 more	GBenign/Likely benign