Related gene-specific medical variations for Gene (Select 54221) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3321238	NM_018968.4(SNTG2):c.31G>A (p.Ala11Thr)	SNTG2, SNTG2-AS1 (A11T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167103	NM_018968.4(SNTG2):c.17C>T (p.Pro6Leu)	SNTG2, SNTG2-AS1 (P6L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2690053	NM_018968.4(SNTG2):c.1438C>T (p.Arg480Ter)	SNTG2 (R480*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2321956	NM_018968.4(SNTG2):c.43C>G (p.Arg15Gly)	SNTG2, SNTG2-AS1 (R15G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808094	GRCh37/hg19 2p25.3(chr2:1033756-1252097)x3	SNTG2	Copy number gain	not provided	GUncertain significance
Select item 980461	GRCh37/hg19 2p25.3(chr2:936693-989963)x1	SNTG2	Copy number loss	not provided	GUncertain significance
Select item 979984	GRCh37/hg19 2p25.3(chr2:788526-1066793)x3	SNTG2	Copy number gain	not provided	GLikely benign
Select item 689229	GRCh37/hg19 2p25.3(chr2:1091420-1231315)x1	SNTG2	Copy number loss	not provided	GUncertain significance
Select item 688828	GRCh37/hg19 2p25.3(chr2:788889-1053456)x3	SNTG2	Copy number gain	not provided	GUncertain significance
Select item 688787	GRCh37/hg19 2p25.3(chr2:788889-1053456)x3	SNTG2	Copy number gain	not provided	GUncertain significance
Select item 687448	GRCh37/hg19 2p25.3(chr2:922539-985369)x1	SNTG2	Copy number loss	not provided	GUncertain significance
Select item 686793	GRCh37/hg19 2p25.3(chr2:1097715-1231315)x4	SNTG2	Copy number gain	not provided	GUncertain significance
Select item 686589	GRCh37/hg19 2p25.3(chr2:1193606-1315346)x3	SNTG2	Copy number gain	not provided	GUncertain significance
Select item 686579	GRCh37/hg19 2p25.3(chr2:1131015-1345948)x1	SNTG2	Copy number loss	not provided	GUncertain significance
Select item 685096	GRCh37/hg19 2p25.3(chr2:776559-1037783)x3	SNTG2	Copy number gain	not provided	GUncertain significance
Select item 562526	GRCh37/hg19 2p25.3(chr2:1080273-1231315)x1	SNTG2	Copy number loss	not provided	GUncertain significance