"GeneDx"[submitter] AND "TTC12"[gene] - ClinVar

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Search results

Items: 36

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59772	GRCh38/hg38 11q22.1-25(chr11:100348599-135040246)x3	AASDHPPT, ABCG4 +1199 more	Copy number gain	See cases	GPathogenic
Select item 1250214	NM_017868.4(TTC12):c.-15-189G>A	TTC12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1253908	NM_017868.4(TTC12):c.-15-86C>T	TTC12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1270524	NM_017868.4(TTC12):c.59-167dup	TTC12	Duplication (intron variant)	not provided	GBenign
Select item 1225031	NM_017868.4(TTC12):c.59-167del	TTC12	Deletion (intron variant)	not provided	GBenign
Select item 1250113	NM_017868.4(TTC12):c.59-174A>C	TTC12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1251327	NM_017868.4(TTC12):c.59-47C>G	TTC12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1265170	NM_017868.4(TTC12):c.59-34T>C	TTC12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1258984	NM_017868.4(TTC12):c.217A>C (p.Met73Leu)	TTC12 (M48L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign
Select item 1220837	NM_017868.4(TTC12):c.222+156del	TTC12	Deletion (intron variant)	not provided	GBenign
Select item 1244086	NM_017868.4(TTC12):c.322+191A>G	TTC12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1250786	NM_017868.4(TTC12):c.445-84A>G	TTC12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1287032	NM_017868.4(TTC12):c.504+8G>A	TTC12	Single nucleotide variant (intron variant)	Ciliary dyskinesia, primary, 45 +1 more	GBenign
Select item 1226296	NM_017868.4(TTC12):c.504+30A>G	TTC12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1277251	NM_017868.4(TTC12):c.577-68C>G	TTC12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1230670	NM_017868.4(TTC12):c.827-57G>T	TTC12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1281016	NM_017868.4(TTC12):c.827-16T>G	TTC12	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1227230	NM_017868.4(TTC12):c.897-6T>C	TTC12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1245896	NM_017868.4(TTC12):c.1116C>T (p.Ser372=)	TTC12, LOC126861342	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1268931	NM_017868.4(TTC12):c.1247+24T>C	TTC12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1290822	NM_017868.4(TTC12):c.1446+55G>T	TTC12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1286214	NM_017868.4(TTC12):c.1446+205T>A	TTC12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1236408	NM_017868.4(TTC12):c.1447-150C>T	TTC12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1223951	NM_017868.4(TTC12):c.1546-62C>T	TTC12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1252396	NM_017868.4(TTC12):c.1614+44TTGTT[10]	TTC12	Microsatellite (intron variant)	not provided	GBenign
Select item 1250043	NM_017868.4(TTC12):c.1614+44TTGTT[9]	TTC12	Microsatellite (intron variant)	not provided	GBenign
Select item 1273816	NM_017868.4(TTC12):c.1614+198A>G	TTC12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1278788	NM_017868.4(TTC12):c.1615-64G>A	TTC12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1231534	NM_017868.4(TTC12):c.1717-84G>A	TTC12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1183688	NM_017868.4(TTC12):c.1717-79A>G	TTC12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1280036	NM_017868.4(TTC12):c.1816+30T>C	TTC12	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1275576	NM_017868.4(TTC12):c.1816+126A>G	TTC12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1264231	NM_017868.4(TTC12):c.1817-138A>G	TTC12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1276089	NM_017868.4(TTC12):c.1817-92G>A	TTC12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1272523	NM_017868.4(TTC12):c.2042+82A>G	TTC12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1283643	NC_000011.10:g.113366469G>T	TTC12	Single nucleotide variant	not provided	GBenign

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Items: 36