"GeneDx"[submitter] AND "SYT14"[gene] - ClinVar

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Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58116	GRCh38/hg38 1q32.2-44(chr1:209646207-248931113)x3	LOC120908923, LOC120947224 +1352 more	Copy number gain	See cases	GPathogenic
Select item 1261366	NC_000001.11:g.209937897A>T	LOC113939983, SYT14	Single nucleotide variant	not provided	GBenign
Select item 1181007	NC_000001.11:g.209938148C>T	SYT14	Single nucleotide variant	not provided	GBenign
Select item 1804620	NM_153262.3(SYT14):c.-64C>T	SYT14	Single nucleotide variant	not provided	GLikely benign
Select item 432092	NM_001146262.4(SYT14):c.13+1G>A	SYT14	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 1238189	NM_001146262.4(SYT14):c.13+111G>A	SYT14	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1241939	NM_001146262.4(SYT14):c.14-174T>C	SYT14	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1302785	NM_001146262.4(SYT14):c.61+168_61+170del	SYT14	Microsatellite (intron variant)	not provided	GBenign
Select item 1254624	NM_001146262.4(SYT14):c.61+12968G>A	SYT14	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1229055	NM_001146262.4(SYT14):c.61+13405C>T	SYT14	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1226762	NM_001146262.4(SYT14):c.227-183_227-182insGT	SYT14	Insertion (intron variant)	not provided	GBenign
Select item 1265709	NM_001146262.4(SYT14):c.227-181TG[8]	SYT14	Microsatellite (intron variant)	not provided	GBenign
Select item 1183656	NM_001146262.4(SYT14):c.227-182A>G	SYT14	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1326087	NM_001146262.4(SYT14):c.442+86A>G	SYT14	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1261732	NM_001146262.4(SYT14):c.443-281_443-280insCTAA	SYT14	Insertion (intron variant)	not provided	GBenign
Select item 212360	NM_001146262.4(SYT14):c.672AGA[1] (p.Glu225del)	SYT14 (E270del +3 more)	Microsatellite (inframe_deletion +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1295577	NM_001146262.4(SYT14):c.1164+80A>T	SYT14	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1228736	NM_001146262.4(SYT14):c.1165-253G>T	SYT14	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1226551	NM_001146262.4(SYT14):c.1355-230dup	SYT14	Duplication (intron variant)	not provided	GBenign
Select item 1321724	NM_001146262.4(SYT14):c.1355-189C>A	SYT14	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1302479	NM_001146262.4(SYT14):c.1412-298A>G	SYT14	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1707939	NM_001146262.4(SYT14):c.1412-131C>T	SYT14	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 130533	NM_001146262.4(SYT14):c.1419T>C (p.Tyr473=)	SYT14	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 1267077	NM_001146262.4(SYT14):c.*280TAATTT[1]	SYT14	Microsatellite (3 prime UTR variant +1 more)	not provided	GBenign
Select item 253654	GRCh37/hg19 1q31.3-42.13(chr1:197811907-228997888)x3	ACBD3, ADIPOR1 +242 more	Copy number gain	See cases	GPathogenic

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Items: 25