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

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Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59195	GRCh38/hg38 20p12.2-q12(chr20:9811433-39316956)x3	LOC613266, MACROD2 +950 more	Copy number gain	See cases	GPathogenic
Select item 1239174	NM_198291.3(SRC):c.250+211A>G	SRC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1281875	NM_198291.3(SRC):c.250+217A>G	SRC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1236716	NM_198291.3(SRC):c.250+219A>G	SRC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1288138	NM_198291.3(SRC):c.250+223A>G	SRC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1269563	NM_198291.3(SRC):c.250+235T>G	SRC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1271503	NM_198291.3(SRC):c.250+237A>T	SRC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1266384	NM_198291.3(SRC):c.250+238T>G	SRC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1235100	NM_198291.3(SRC):c.250+243T>C	SRC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1276301	NM_198291.3(SRC):c.250+247A>G	SRC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1262217	NM_198291.3(SRC):c.250+249T>G	SRC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1226484	NM_198291.3(SRC):c.250+257T>G	SRC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1268676	NM_198291.3(SRC):c.250+259A>G	SRC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1275298	NM_198291.3(SRC):c.250+265_250+268del	SRC	Deletion (intron variant)	not provided	GBenign
Select item 1262847	NM_198291.3(SRC):c.250+270_250+271insG	SRC	Insertion (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 1259109	NM_198291.3(SRC):c.250+286dup	LOC130065826, SRC	Duplication (intron variant)	not provided	GBenign
Select item 1268183	NM_198291.3(SRC):c.250+297T>C	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 3252895	NM_198291.3(SRC):c.1039+5G>C	SRC	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1272399	NM_198291.3(SRC):c.1117-180C>T	SRC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3252560	NM_198291.3(SRC):c.1250_1253del (p.Asn417fs)	SRC (N417fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1268247	NM_198291.3(SRC):c.1271-55=	SRC	Single nucleotide variant (intron variant)	not provided	GBenign

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Items: 23