Related gene-specific medical variations for Gene (Select 339201) - ClinVar

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Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3130151	NM_080863.5(ASB16):c.956C>A (p.Thr319Lys)	ASB16, ASB16-AS1 (T319K)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3130150	NM_080863.5(ASB16):c.896T>C (p.Leu299Pro)	ASB16, ASB16-AS1 (L299P)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3130148	NM_080863.5(ASB16):c.797C>T (p.Ala266Val)	ASB16, ASB16-AS1 (A266V)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 3130145	NM_080863.5(ASB16):c.1258C>G (p.Arg420Gly)	ASB16, ASB16-AS1 (R420G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130144	NM_080863.5(ASB16):c.1075T>G (p.Cys359Gly)	ASB16, ASB16-AS1 (C359G)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3130142	NM_080863.5(ASB16):c.1049C>T (p.Pro350Leu)	ASB16, ASB16-AS1 (P350L)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2647820	NM_080863.5(ASB16):c.1161C>T (p.Leu387=)	ASB16, ASB16-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2647819	NM_080863.5(ASB16):c.972G>A (p.Ala324=)	ASB16, ASB16-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2611924	NM_080863.5(ASB16):c.1298G>C (p.Arg433Pro)	ASB16, ASB16-AS1 (R433P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525746	NM_080863.5(ASB16):c.1237C>T (p.His413Tyr)	ASB16, ASB16-AS1 (H413Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523577	NM_080863.5(ASB16):c.740T>A (p.Leu247Gln)	ASB16, ASB16-AS1 (L247Q)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2492413	NM_080863.5(ASB16):c.958C>T (p.Pro320Ser)	ASB16, ASB16-AS1 (P320S)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2492121	NM_080863.5(ASB16):c.1340G>A (p.Arg447His)	ASB16, ASB16-AS1 (R447H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459046	NM_080863.5(ASB16):c.598G>A (p.Ala200Thr)	ASB16, ASB16-AS1 (A200T)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2383848	NM_080863.5(ASB16):c.1295C>T (p.Thr432Ile)	ASB16, ASB16-AS1 (T432I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374103	NM_080863.5(ASB16):c.1009G>A (p.Glu337Lys)	ASB16, ASB16-AS1 (E337K)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2338960	NM_080863.5(ASB16):c.818C>G (p.Ala273Gly)	ASB16, ASB16-AS1 (A273G)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2325813	NM_080863.5(ASB16):c.941A>G (p.Asn314Ser)	ASB16, ASB16-AS1 (N314S)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2319397	NM_080863.5(ASB16):c.802C>T (p.Arg268Cys)	ASB16, ASB16-AS1 (R268C)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2300796	NM_080863.5(ASB16):c.857C>T (p.Thr286Met)	ASB16, ASB16-AS1 (T286M)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2300372	NM_080863.5(ASB16):c.962T>C (p.Met321Thr)	ASB16, ASB16-AS1 (M321T)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2267840	NM_080863.5(ASB16):c.1243G>A (p.Ala415Thr)	ASB16, ASB16-AS1 (A415T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264535	NM_080863.5(ASB16):c.635C>T (p.Thr212Met)	ASB16, ASB16-AS1 (T212M)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2224978	NM_080863.5(ASB16):c.850C>T (p.Arg284Cys)	ASB16, ASB16-AS1 (R284C)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2223931	NM_080863.5(ASB16):c.658C>T (p.Arg220Cys)	ASB16, ASB16-AS1 (R220C)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 994059	NM_080863.5(ASB16):c.1055G>A (p.Arg352His)	ASB16, ASB16-AS1 (R352H)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity

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Links from Gene

Items: 26