"GeneDx"[submitter] AND "GAS8"[gene] - ClinVar

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Items: 74

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1269255	NM_001286209.2(GAS8):c.-73+2611G>A	GAS8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1294084	NM_001286209.2(GAS8):c.-73+2728C>G	GAS8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1236662	NM_001481.3(GAS8):c.-7T>G	GAS8	Single nucleotide variant (5 prime UTR variant +1 more)	Primary ciliary dyskinesia 33 +1 more	GBenign
Select item 1282235	NM_001481.3(GAS8):c.3+175C>T	GAS8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1286845	NM_001481.3(GAS8):c.3+181C>T	GAS8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1221064	NM_001481.3(GAS8):c.3+203C>T	GAS8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1526391	NM_001481.3(GAS8):c.3+236C>T	GAS8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1222931	NM_001481.3(GAS8):c.3+331C>G	GAS8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1223279	NM_001481.3(GAS8):c.4-75T>C	GAS8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1262700	NM_001481.3(GAS8):c.90+39G>A	GAS8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1243800	NM_001481.3(GAS8):c.90+65A>G	GAS8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1236426	NM_001481.3(GAS8):c.90+84C>T	GAS8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1245758	NM_001481.3(GAS8):c.91-449G>A	GAS8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1233802	NM_001481.3(GAS8):c.91-163C>T	GAS8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1207656	NM_001481.3(GAS8):c.91-35C>A	GAS8	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2444630	NM_001481.3(GAS8):c.125T>C (p.Leu42Pro)	GAS8 (L17P +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1170264	NM_001481.3(GAS8):c.132C>T (p.Arg44=)	GAS8	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 3367570	NM_001481.3(GAS8):c.150C>A (p.Asn50Lys)	GAS8 (N25K +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 475562	NM_001481.3(GAS8):c.245G>A (p.Arg82Gln)	GAS8 (R57Q +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Primary ciliary dyskinesia 33 +1 more	GBenign/Likely benign
Select item 1290838	NM_001481.3(GAS8):c.288+75A>G	GAS8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1261375	NM_001481.3(GAS8):c.288+91G>C	GAS8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1264203	NM_001481.3(GAS8):c.288+144G>A	GAS8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1250229	NM_001481.3(GAS8):c.289-298G>C	GAS8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1210995	NM_001481.3(GAS8):c.289-230C>T	GAS8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1695488	NM_001481.3(GAS8):c.289-92C>T	GAS8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1263786	NM_001481.3(GAS8):c.289-65C>T	GAS8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1280549	NM_001481.3(GAS8):c.495+16G>A	GAS8	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 33 +1 more	GBenign
Select item 1208758	NM_001481.3(GAS8):c.495+44C>T	GAS8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1291653	NM_001481.3(GAS8):c.495+146A>T	GAS8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1221777	NM_001481.3(GAS8):c.495+239G>A	GAS8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1267188	NM_001481.3(GAS8):c.496-214C>T	GAS8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1223128	NM_001481.3(GAS8):c.550+289C>A	GAS8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2444534	NM_001481.3(GAS8):c.558G>C (p.Glu186Asp)	GAS8 (E103D +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1378898	NM_001481.3(GAS8):c.559G>A (p.Ala187Thr)	GAS8 (A187T +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 475567	NM_001481.3(GAS8):c.595G>A (p.Glu199Lys)	GAS8 (E199K +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 402891	NM_001481.3(GAS8):c.597A>G (p.Glu199=)	GAS8	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia 33 +2 more	GBenign
Select item 1260950	NM_001481.3(GAS8):c.756+41G>A	GAS8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1267193	NM_001481.3(GAS8):c.756+93C>T	GAS8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1272080	NM_001481.3(GAS8):c.756+123G>A	GAS8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1220368	NM_001481.3(GAS8):c.756+137C>T	GAS8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1274591	NM_001481.3(GAS8):c.756+252C>G	GAS8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1233668	NM_001481.3(GAS8):c.757-189C>T	GAS8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1275215	NM_001481.3(GAS8):c.757-132C>G	GAS8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 402892	NM_001481.3(GAS8):c.776G>A (p.Arg259Gln)	GAS8 (R234Q +3 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 33 +2 more	GBenign
Select item 475568	NM_001481.3(GAS8):c.808G>C (p.Ala270Pro)	GAS8 (A245P +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 475570	NM_001481.3(GAS8):c.833G>A (p.Arg278His)	GAS8 (R253H +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 542273	NM_001481.3(GAS8):c.841G>C (p.Asp281His)	GAS8 (D256H +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1272113	NM_001481.3(GAS8):c.925-151G>A	GAS8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1264815	NM_001481.3(GAS8):c.1011+278G>A	GAS8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1285782	NM_001481.3(GAS8):c.1012-296G>C	GAS8	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 1227940	NM_001481.3(GAS8):c.1012-183T>C	GAS8	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 1706941	NM_001481.3(GAS8):c.1012-55C>T	GAS8	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 402893	NM_001481.3(GAS8):c.1050C>T (p.Thr350=)	GAS8	Single nucleotide variant (non-coding transcript variant +1 more)	Primary ciliary dyskinesia 33 +2 more	GBenign
Select item 475555	NM_001481.3(GAS8):c.1106G>A (p.Arg369His)	GAS8 (R344H +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Primary ciliary dyskinesia 33 +1 more	GBenign/Likely benign
Select item 707684	NM_001481.3(GAS8):c.1211G>A (p.Arg404His)	GAS8 (R321H +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1289268	NM_001481.3(GAS8):c.1221+126A>G	GAS8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1241728	NM_001481.3(GAS8):c.1221+128G>C	GAS8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1241808	NM_001481.3(GAS8):c.1221+180A>G	GAS8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1286825	NM_001481.3(GAS8):c.1222-46C>T	GAS8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1526369	NM_001481.3(GAS8):c.1287+39C>T	GAS8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1197025	NM_001481.3(GAS8):c.1287+44C>T	GAS8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1267213	NM_001481.3(GAS8):c.1287+135G>A	GAS8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1237852	NM_001481.3(GAS8):c.1287+201A>G	GAS8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1193764	NM_001481.3(GAS8):c.1287+280C>G	GAS8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1221816	NM_001481.3(GAS8):c.1288-232C>T	GAS8	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 1225769	NM_001481.3(GAS8):c.1288-85G>A	GAS8	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 839874	NM_001481.3(GAS8):c.1306C>T (p.Arg436Cys)	GAS8 (R353C +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Primary ciliary dyskinesia 33 +1 more	GUncertain significance
Select item 2039955	NM_001481.3(GAS8):c.1336G>A (p.Gly446Arg)	GAS8 (G254R +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Primary ciliary dyskinesia 33 +1 more	GUncertain significance
Select item 402894	NM_001481.3(GAS8):c.1395A>G (p.Thr465=)	GAS8	Single nucleotide variant (non-coding transcript variant +1 more)	Primary ciliary dyskinesia 33 +2 more	GBenign
Select item 402895	NM_001481.3(GAS8):c.*9dup	GAS8	Duplication (non-coding transcript variant +1 more)	Primary ciliary dyskinesia 33 +2 more	GBenign
Select item 1291627	NM_001481.3(GAS8):c.*274G>A	GAS8	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 253944	GRCh37/hg19 16q24.3(chr16:89696893-90103214)x3	ZNF276, SPIRE2 +15 more	Copy number gain	See cases	GUncertain significance
Select item 253762	GRCh37/hg19 16q24.3(chr16:89836157-90127980)x1	SPIRE2, TUBB3 +9 more	Copy number loss	See cases	GUncertain significance
Select item 253554	GRCh37/hg19 16q23.1-24.3(chr16:74872514-90274440)x3	ACSF3, ADAD2 +127 more	Copy number gain	See cases	GPathogenic

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Items: 74