"GeneDx"[submitter] AND "ADGRG6"[gene] - ClinVar

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Items: 43

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1223247	NC_000006.12:g.142301686A>G	ADGRG6	Single nucleotide variant	not provided	GBenign
Select item 1225111	NC_000006.12:g.142301818A>G	ADGRG6, LOC129997316	Single nucleotide variant	not provided	GBenign
Select item 1224928	NC_000006.12:g.142301821C>T	ADGRG6, LOC129997316	Single nucleotide variant	not provided	GBenign
Select item 1295007	NC_000006.12:g.142301906T>C	ADGRG6, LOC129997316	Single nucleotide variant	not provided	GBenign
Select item 1231718	NM_198569.3(ADGRG6):c.-314T>G	ADGRG6	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1256800	NM_198569.3(ADGRG6):c.-266C>T	ADGRG6	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1277642	NM_198569.3(ADGRG6):c.-241G>A	ADGRG6	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1221135	NM_198569.3(ADGRG6):c.-239C>T	ADGRG6	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1270572	NM_198569.3(ADGRG6):c.2+179A>G	ADGRG6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1283634	NM_198569.3(ADGRG6):c.3-23A>G	ADGRG6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1308919	NM_198569.3(ADGRG6):c.215G>A (p.Arg72Gln)	ADGRG6 (R72Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1243331	NM_198569.3(ADGRG6):c.225C>T (p.Thr75=)	ADGRG6	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1308918	NM_198569.3(ADGRG6):c.305A>G (p.Asp102Gly)	ADGRG6 (D102G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1277289	NM_198569.3(ADGRG6):c.367A>G (p.Ser123Gly)	ADGRG6 (S123G)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 776167	NM_198569.3(ADGRG6):c.440T>A (p.Ile147Asn)	ADGRG6 (I147N)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 504275	NM_198569.3(ADGRG6):c.738dup (p.Ala247fs)	ADGRG6 (A247fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 1269008	NM_198569.3(ADGRG6):c.1069+148C>A	ADGRG6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1288533	NM_198569.3(ADGRG6):c.1119C>T (p.Asp373=)	ADGRG6	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1256969	NM_198569.3(ADGRG6):c.1222+90G>A	ADGRG6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1275424	NM_198569.3(ADGRG6):c.1424+100T>C	ADGRG6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1287099	NM_198569.3(ADGRG6):c.1425-125T>C	ADGRG6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1245238	NM_198569.3(ADGRG6):c.1568-217A>G	ADGRG6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1276276	NM_198569.3(ADGRG6):c.1568-153del	ADGRG6	Deletion (intron variant)	not provided	GBenign
Select item 3342418	NM_198569.3(ADGRG6):c.1582A>C (p.Met528Leu)	ADGRG6 (M500L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1163275	NM_198569.3(ADGRG6):c.1672C>T (p.Arg558Trp)	ADGRG6 (R530W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1256774	NM_198569.3(ADGRG6):c.1680-129G>A	ADGRG6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1294810	NM_198569.3(ADGRG6):c.1745-42T>G	ADGRG6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1235454	NM_198569.3(ADGRG6):c.1955+188del	ADGRG6	Deletion (intron variant)	not provided	GBenign
Select item 1231157	NM_198569.3(ADGRG6):c.1956-128C>T	ADGRG6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1277069	NM_198569.3(ADGRG6):c.1956-21C>T	ADGRG6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1276995	NM_198569.3(ADGRG6):c.2127+72G>C	ADGRG6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1255113	NM_198569.3(ADGRG6):c.2542-236G>T	ADGRG6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1307917	NM_198569.3(ADGRG6):c.2799_2804del (p.932AV[1])	ADGRG6	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 1269809	NM_198569.3(ADGRG6):c.2939-117T>G	ADGRG6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1226878	NM_198569.3(ADGRG6):c.2939-92_2939-88del	ADGRG6	Deletion (intron variant)	not provided	GBenign
Select item 1279866	NM_198569.3(ADGRG6):c.2939-43C>T	ADGRG6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1302677	NM_198569.3(ADGRG6):c.3059T>C (p.Ile1020Thr)	ADGRG6 (I1020T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2208175	NM_198569.3(ADGRG6):c.3278T>C (p.Ile1093Thr)	ADGRG6 (I1093T +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1290603	NM_198569.3(ADGRG6):c.3320-187C>T	ADGRG6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1230471	NM_198569.3(ADGRG6):c.3574+130G>A	ADGRG6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3343269	NM_198569.3(ADGRG6):c.3575-2436G>A	ADGRG6	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3362036	NM_198569.3(ADGRG6):c.2609T>C (p.Ile870Thr)	ADGRG6 (I842T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360909	NM_198569.3(ADGRG6):c.1748A>G (p.Glu583Gly)	ADGRG6 (E555G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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Items: 43