Related gene-specific medical variations for Gene (Select 6447) - ClinVar

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Items: 36

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3158398	NM_001144757.3(SCG5):c.11G>A (p.Arg4Lys)	ARHGAP11A-SCG5, SCG5 (R418K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2645129	NM_001144757.3(SCG5):c.507C>T (p.Tyr169=)	ARHGAP11A-SCG5, SCG5	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2645128	NM_001144757.3(SCG5):c.411T>C (p.Thr137=)	ARHGAP11A-SCG5, SCG5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2645127	NM_001144757.3(SCG5):c.282C>T (p.Ile94=)	ARHGAP11A-SCG5, SCG5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2645126	NM_001144757.3(SCG5):c.72A>G (p.Ala24=)	ARHGAP11A-SCG5, SCG5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2463332	NM_001144757.3(SCG5):c.482G>T (p.Gly161Val)	ARHGAP11A-SCG5, SCG5 (G160V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1701250	NM_001144757.3(SCG5):c.543+8G>A	ARHGAP11A-SCG5, SCG5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1318313	NM_001144757.3(SCG5):c.226+175A>G	ARHGAP11A-SCG5, SCG5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1318246	NM_001144757.3(SCG5):c.227-4G>A	ARHGAP11A-SCG5, SCG5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1318132	NM_001144757.3(SCG5):c.490-186G>A	ARHGAP11A-SCG5, SCG5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1318016	NM_001144757.3(SCG5):c.-68C>T	ARHGAP11A-SCG5, SCG5	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1318011	NM_001144757.3(SCG5):c.-68C>G	ARHGAP11A-SCG5, SCG5	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1317885	NM_001144757.3(SCG5):c.227-39G>T	ARHGAP11A-SCG5, SCG5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1317681	NM_001144757.3(SCG5):c.544-248C>T	ARHGAP11A-SCG5, SCG5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1317651	NM_001144757.3(SCG5):c.544-242C>T	ARHGAP11A-SCG5, SCG5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1316421	NM_001144757.3(SCG5):c.544-247A>G	ARHGAP11A-SCG5, SCG5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1316231	NM_001144757.3(SCG5):c.459G>A (p.Pro153=)	ARHGAP11A-SCG5, SCG5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1316230	NM_001144757.3(SCG5):c.543+251C>T	ARHGAP11A-SCG5, SCG5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1292584	NM_001144757.3(SCG5):c.544-118C>T	ARHGAP11A-SCG5, SCG5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1291158	NM_001144757.3(SCG5):c.544-250C>T	ARHGAP11A-SCG5, SCG5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1287486	NM_001144757.3(SCG5):c.-32A>T	ARHGAP11A-SCG5, SCG5	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1278072	NM_001144757.3(SCG5):c.544-119G>A	ARHGAP11A-SCG5, SCG5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1270848	NM_001144757.3(SCG5):c.-7-60T>C	ARHGAP11A-SCG5, SCG5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1268075	NM_001144757.3(SCG5):c.*312T>A	ARHGAP11A-SCG5, SCG5	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1267827	NM_001144757.3(SCG5):c.227-209G>A	ARHGAP11A-SCG5, SCG5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1244454	NM_001144757.3(SCG5):c.226+129T>C	ARHGAP11A-SCG5, SCG5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1239157	NM_001144757.3(SCG5):c.227-33C>T	ARHGAP11A-SCG5, SCG5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1236383	NM_001144757.3(SCG5):c.376+138G>A	ARHGAP11A-SCG5, SCG5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1235123	NM_001144757.3(SCG5):c.489+231A>G	ARHGAP11A-SCG5, SCG5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1229884	NM_001144757.3(SCG5):c.-8+114G>A	ARHGAP11A-SCG5, SCG5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1227945	NM_001144757.3(SCG5):c.543+232A>G	ARHGAP11A-SCG5, SCG5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1221298	NM_001144757.3(SCG5):c.544-251A>G	ARHGAP11A-SCG5, SCG5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1182118	NM_001144757.3(SCG5):c.544-235G>A	SCG5, ARHGAP11A-SCG5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1180365	NM_001144757.3(SCG5):c.*437C>T	ARHGAP11A-SCG5, SCG5	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 476577	NC_000015.9:g.(?_32964740)_(32988830_?)dup	ARHGAP11A-SCG5, GREM1 +2 more	Duplication	Familial colorectal cancer	GUncertain significance
Select item 374976	NM_001144757.3(SCG5):c.532C>T (p.Arg178Ter)	ARHGAP11A-SCG5, SCG5 (R178* +2 more)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance

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Items: 36