"Ambry Genetics"[submitter] AND "SEPTIN5"[gene] - ClinVar

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Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2615707	NM_002688.6(SEPTIN5):c.28A>C (p.Lys10Gln)	SEPTIN5 (K10Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160152	NM_002688.6(SEPTIN5):c.35C>T (p.Ala12Val)	SEPTIN5 (A12V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160147	NM_002688.6(SEPTIN5):c.184C>A (p.His62Asn)	SEPT5-GP1BB, SEPTIN5 (H71N +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2602942	NM_002688.6(SEPTIN5):c.213G>T (p.Lys71Asn)	SEPT5-GP1BB, SEPTIN5 (K71N +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3160148	NM_002688.6(SEPTIN5):c.220A>C (p.Lys74Gln)	SEPT5-GP1BB, SEPTIN5 (K74Q +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2520103	NM_002688.6(SEPTIN5):c.248G>A (p.Ser83Asn)	SEPT5-GP1BB, SEPTIN5 (S83N +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 3160149	NM_002688.6(SEPTIN5):c.265C>G (p.Leu89Val)	SEPT5-GP1BB, SEPTIN5 (L89V +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3160150	NM_002688.6(SEPTIN5):c.316A>G (p.Ile106Val)	SEPT5-GP1BB, SEPTIN5 (I106V +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3160151	NM_002688.6(SEPTIN5):c.326C>T (p.Thr109Met)	SEPT5-GP1BB, SEPTIN5 (T109M +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3160153	NM_002688.6(SEPTIN5):c.389A>C (p.Asp130Ala)	SEPT5-GP1BB, SEPTIN5 (D139A +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3160154	NM_002688.6(SEPTIN5):c.482C>G (p.Ser161Cys)	SEPT5-GP1BB, SEPTIN5 (S161C +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3160155	NM_002688.6(SEPTIN5):c.489C>G (p.Phe163Leu)	SEPT5-GP1BB, SEPTIN5 (F163L +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2530718	NM_002688.6(SEPTIN5):c.502C>T (p.Arg168Trp)	SEPT5-GP1BB, SEPTIN5 (R168W +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3160156	NM_002688.6(SEPTIN5):c.620G>A (p.Arg207Gln)	SEPT5-GP1BB, SEPTIN5 (R216Q +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2454729	NM_002688.6(SEPTIN5):c.706C>T (p.Arg236Trp)	SEPT5-GP1BB, SEPTIN5 (R236W +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3317496	NM_002688.6(SEPTIN5):c.843G>A (p.Val281=)	SEPT5-GP1BB, SEPTIN5 (E287K)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GLikely benign
Select item 2559197	NM_002688.6(SEPTIN5):c.843G>T (p.Val281=)	SEPT5-GP1BB, SEPTIN5 (E287*)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GLikely benign
Select item 3160157	NM_002688.6(SEPTIN5):c.877C>T (p.His293Tyr)	SEPT5-GP1BB, SEPTIN5 (A298V +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3317497	NM_002688.6(SEPTIN5):c.884T>C (p.Leu295Pro)	SEPT5-GP1BB, SEPTIN5 (L295P)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 3160158	NM_002688.6(SEPTIN5):c.930C>G (p.His310Gln)	SEPT5-GP1BB, SEPTIN5 (L316V +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3160159	NM_002688.6(SEPTIN5):c.978G>C (p.Glu326Asp)	SEPT5-GP1BB, SEPTIN5 (E326D +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3160160	NM_002688.6(SEPTIN5):c.983C>T (p.Pro328Leu)	SEPT5-GP1BB, SEPTIN5 (P328L)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance

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Items: 22