Related gene-specific medical variations for Gene (Select 6714) - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1268183	NM_198291.3(SRC):c.250+297T>C	LOC130065826, SRC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1259109	NM_198291.3(SRC):c.250+286dup	LOC130065826, SRC	Duplication (intron variant)	not provided	GBenign
Select item 1244367	NM_198291.3(SRC):c.250+274A>G	LOC130065826, SRC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1182919	NM_198291.3(SRC):c.250+306del	SRC, LOC130065826	Deletion (intron variant)	not provided	GBenign
Select item 100851	NM_198291.3(SRC):c.1200C>G (p.Asn400Lys)	SRC (N400K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 98533	NM_198291.3(SRC):c.1387C>T (p.Arg463Trp)	SRC (R463W)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 98532	NM_198291.3(SRC):c.1323C>A (p.Arg441=)	SRC	Single nucleotide variant (synonymous variant)	not provided	Gnot provided
Select item 98531	NM_198291.3(SRC):c.1263G>A (p.Ala421=)	SRC	Single nucleotide variant (synonymous variant)	not provided	Gnot provided
Select item 98530	NM_198291.3(SRC):c.1239C>T (p.Leu413=)	SRC	Single nucleotide variant (synonymous variant)	not provided	Gnot provided
Select item 98529	NM_198291.3(SRC):c.1200C>T (p.Asn400=)	SRC	Single nucleotide variant (synonymous variant)	not provided	Gnot provided
Select item 98528	NM_198291.3(SRC):c.846C>T (p.Gly282=)	SRC	Single nucleotide variant (synonymous variant)	not provided	Gnot provided
Select item 98527	NM_198291.3(SRC):c.727C>T (p.Arg243Cys)	SRC (R243C)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 98526	NM_198291.3(SRC):c.642C>T (p.Gly214=)	SRC	Single nucleotide variant (synonymous variant)	not provided	Gnot provided
Select item 98525	NM_198291.3(SRC):c.85G>T (p.Gly29Trp)	SRC (G29W)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 98524	NM_198291.3(SRC):c.61G>A (p.Ala21Thr)	SRC (A21T)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 98523	NM_198291.3(SRC):c.12C>T (p.Asn4=)	SRC	Single nucleotide variant (synonymous variant)	not provided	Gnot provided