"SIPA1L3-related condition"[Disease/phenotype] AND "PreventionGenetics - ClinVar

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Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 779987	NM_015073.3(SIPA1L3):c.392C>T (p.Ala131Val)	SIPA1L3 (A131V)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 2750757	NM_015073.3(SIPA1L3):c.572G>A (p.Arg191Gln)	SIPA1L3 (R191Q)	Single nucleotide variant (missense variant)	SIPA1L3-related condition +1 more	GBenign
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 744419	NM_015073.3(SIPA1L3):c.1005G>A (p.Val335=)	SIPA1L3	Single nucleotide variant (synonymous variant)	SIPA1L3-related condition +1 more	GBenign/Likely benign
Select item 728691	NM_015073.3(SIPA1L3):c.1245C>T (p.Leu415=)	SIPA1L3	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 3043612	NM_015073.3(SIPA1L3):c.1704G>A (p.Thr568=)	SIPA1L3	Single nucleotide variant (synonymous variant)	SIPA1L3-related condition	GLikely benign
Select item 3047607	NM_015073.3(SIPA1L3):c.2238C>T (p.His746=)	SIPA1L3	Single nucleotide variant (synonymous variant)	SIPA1L3-related condition	GLikely benign
Select item 2042010	NM_015073.3(SIPA1L3):c.2292-6C>T	SIPA1L3	Single nucleotide variant (intron variant)	SIPA1L3-related condition +1 more	GBenign/Likely benign
Select item 717669	NM_015073.3(SIPA1L3):c.2316C>T (p.Asp772=)	SIPA1L3	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely 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 2896633	NM_015073.3(SIPA1L3):c.2892G>A (p.Thr964=)	SIPA1L3	Single nucleotide variant (synonymous variant)	SIPA1L3-related condition +1 more	GLikely benign
Select item 3052757	NM_015073.3(SIPA1L3):c.2903C>T (p.Thr968Met)	SIPA1L3 (T968M)	Single nucleotide variant (missense variant)	SIPA1L3-related condition	GLikely benign
Select item 2084917	NM_015073.3(SIPA1L3):c.3144-8C>T	SIPA1L3	Single nucleotide variant (intron variant)	SIPA1L3-related condition +1 more	GBenign/Likely benign
Select item 3045207	NM_015073.3(SIPA1L3):c.3177G>A (p.Ser1059=)	SIPA1L3	Single nucleotide variant (synonymous variant)	SIPA1L3-related condition	GLikely benign
Select item 3045608	NM_015073.3(SIPA1L3):c.3255C>T (p.Ser1085=)	SIPA1L3	Single nucleotide variant (synonymous variant)	SIPA1L3-related condition	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 737508	NM_015073.3(SIPA1L3):c.3897C>A (p.Asp1299Glu)	SIPA1L3 (D1299E)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 681010	NM_015073.3(SIPA1L3):c.4681G>C (p.Ala1561Pro)	SIPA1L3 (A1561P)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 733753	NM_015073.3(SIPA1L3):c.4725C>T (p.Ser1575=)	SIPA1L3	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
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
Select item 3050269	NM_015073.3(SIPA1L3):c.4841-9C>G	SIPA1L3	Single nucleotide variant (intron variant)	SIPA1L3-related condition	GLikely benign
Select item 3046886	NM_015073.3(SIPA1L3):c.4866G>A (p.Ser1622=)	SIPA1L3	Single nucleotide variant (synonymous variant)	SIPA1L3-related condition	GLikely benign

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Items: 24