ClinVar for Gene (Select 105371907) - ClinVar - NCBI

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Links from Gene

Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1723379	NM_001113491.2(SEPTIN9):c.19+2del	SEPTIN9, SEPTIN9-DT	Deletion (splice donor variant)	not specified	GUncertain significance
Select item 1255034	NC_000017.11:g.77281351T>G	SEPTIN9, SEPTIN9-DT	Single nucleotide variant	not provided	GBenign
Select item 1248488	NC_000017.11:g.77281348C>G	SEPTIN9, SEPTIN9-DT	Single nucleotide variant	not provided	GBenign
Select item 1239714	NM_001113491.2(SEPTIN9):c.-7A>C	SEPTIN9-DT, SEPTIN9	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1231914	NC_000017.11:g.77281145G>T	SEPTIN9, SEPTIN9-DT	Single nucleotide variant	not provided	GBenign
Select item 1227821	NC_000017.11:g.77281386G>T	SEPTIN9, SEPTIN9-DT	Single nucleotide variant	not provided	GBenign
Select item 1220136	NM_001113491.2(SEPTIN9):c.19+89C>T	SEPTIN9-DT, SEPTIN9	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1212908	NM_001113491.2(SEPTIN9):c.19+253C>G	SEPTIN9, SEPTIN9-DT	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1204281	NM_001113491.2(SEPTIN9):c.19+321C>G	SEPTIN9, SEPTIN9-DT	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1196918	NC_000017.11:g.77281498C>T	SEPTIN9, SEPTIN9-DT	Single nucleotide variant	not provided	GLikely benign
Select item 1191162	NM_001113491.2(SEPTIN9):c.19+320G>A	SEPTIN9, SEPTIN9-DT	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 155275	GRCh38/hg38 17q24.3-25.3(chr17:69916435-83102552)x3	AANAT, AATK +1013 more	Copy number gain	See cases	GPathogenic
Select item 58703	GRCh38/hg38 17q24.3-25.3(chr17:69209079-83086677)x3	MIR636, MIR6516 +1033 more	Copy number gain	See cases	GPathogenic