"GeneDx"[submitter] AND "GRHL3"[gene] - ClinVar

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Items: 51

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1273621	NM_198173.3(GRHL3):c.17+320G>A	GRHL3, GRHL3-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1280059	NM_198173.3(GRHL3):c.17+329C>A	GRHL3, GRHL3-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1243060	NM_198173.3(GRHL3):c.17+3358C>T	GRHL3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1245844	NM_198173.3(GRHL3):c.17+3737C>T	GRHL3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1258052	NM_198173.3(GRHL3):c.18-56A>G	GRHL3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1120074	NM_198173.3(GRHL3):c.165C>G (p.Asp55Glu)	GRHL3 (D55E +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 1229943	NM_198173.3(GRHL3):c.205-219C>T	GRHL3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1295139	NM_198173.3(GRHL3):c.267-253dup	GRHL3	Duplication (intron variant)	not provided	GBenign
Select item 1276904	NM_198173.3(GRHL3):c.267-69G>C	GRHL3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1706750	NM_198173.3(GRHL3):c.286T>G (p.Tyr96Asp)	GRHL3 (Y101D +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 465250	NM_198173.3(GRHL3):c.479T>C (p.Val160Ala)	GRHL3 (V160A +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 2241228	NM_198173.3(GRHL3):c.572G>A (p.Arg191His)	GRHL3 (R191H +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3368329	NM_198173.3(GRHL3):c.589A>C (p.Thr197Pro)	GRHL3 (T151P +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1266140	NM_198173.3(GRHL3):c.687-161G>A	GRHL3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 219243	NM_198173.3(GRHL3):c.738C>T (p.Gly246=)	GRHL3	Single nucleotide variant (synonymous variant)	Isolated cleft palate +1 more	GConflicting classifications of pathogenicity
Select item 3252351	NM_198173.3(GRHL3):c.788T>G (p.Leu263Arg)	GRHL3 (L217R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3342617	NM_198173.3(GRHL3):c.892C>T (p.Arg298Cys)	GRHL3 (R252C +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2504738	NM_198173.3(GRHL3):c.948C>G (p.Asp316Glu)	GRHL3 (D270E +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1712091	NM_198173.3(GRHL3):c.952+80C>G	GRHL3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1281010	NM_198173.3(GRHL3):c.1048-209C>T	GRHL3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1164174	NM_198173.3(GRHL3):c.1110C>G (p.Val370=)	GRHL3	Single nucleotide variant (synonymous variant)	Van der Woude syndrome 2 +1 more	GBenign
Select item 1253198	NM_198173.3(GRHL3):c.1206+79T>C	GRHL3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1706822	NM_198173.3(GRHL3):c.1206+135C>T	GRHL3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 496682	NM_198173.3(GRHL3):c.1225C>T (p.Arg409Cys)	GRHL3 (R363C +2 more)	Single nucleotide variant (missense variant)	Van der Woude syndrome 1 +1 more	GConflicting classifications of pathogenicity
Select item 1310471	NM_198173.3(GRHL3):c.1318G>A (p.Gly440Ser)	GRHL3 (G394S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 465245	NM_198173.3(GRHL3):c.1361C>T (p.Thr454Met)	GRHL3 (T408M +2 more)	Single nucleotide variant (missense variant)	Van der Woude syndrome 2 +1 more	GBenign
Select item 1304219	NM_198173.3(GRHL3):c.1412C>T (p.Ser471Phe)	GRHL3 (S425F +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1264184	NM_198173.3(GRHL3):c.1419+22C>T	GRHL3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1279130	NM_198173.3(GRHL3):c.1419+279T>C	GRHL3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1226340	NM_198173.3(GRHL3):c.1419+293C>T	GRHL3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1255245	NM_198173.3(GRHL3):c.1420-100C>T	GRHL3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 465249	NM_198173.3(GRHL3):c.1451A>G (p.Asn484Ser)	GRHL3 (N438S +2 more)	Single nucleotide variant (missense variant)	Van der Woude syndrome 2 +1 more	GBenign
Select item 1260493	NM_198173.3(GRHL3):c.1454+61_1454+77del	GRHL3	Microsatellite (intron variant)	not provided	GBenign
Select item 1228639	NM_198173.3(GRHL3):c.1454+60C>A	GRHL3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1226466	NM_198173.3(GRHL3):c.1454+64T>G	GRHL3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1265382	NM_198173.3(GRHL3):c.1454+78_1454+94del	GRHL3	Deletion (intron variant)	not provided	GBenign
Select item 1241739	NM_198173.3(GRHL3):c.1543+116G>A	GRHL3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1251854	NM_198173.3(GRHL3):c.1543+151G>C	GRHL3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1234415	NM_198173.3(GRHL3):c.1544-92A>G	GRHL3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1248063	NM_198173.3(GRHL3):c.1629+234C>A	GRHL3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1294792	NM_198173.3(GRHL3):c.1630-157A>G	GRHL3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1274370	NM_198173.3(GRHL3):c.1694+217T>G	GRHL3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1251284	NM_198173.3(GRHL3):c.1695-293A>G	GRHL3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1289265	NM_198173.3(GRHL3):c.1695-253C>T	GRHL3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1237265	NM_198173.3(GRHL3):c.1695-199C>T	GRHL3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1280409	NM_198173.3(GRHL3):c.1695-156C>T	GRHL3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1166266	NM_198173.3(GRHL3):c.1746C>T (p.Val582=)	GRHL3	Single nucleotide variant (synonymous variant +1 more)	Van der Woude syndrome 2 +1 more	GBenign
Select item 1221268	NM_198174.3(GRHL3):c.1695-261A>G	GRHL3, STPG1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1164479	NC_000001.11:g.24364274T>A	GRHL3, STPG1 (M595K)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign
Select item 1264843	NM_198174.3(GRHL3):c.*33C>T	GRHL3, STPG1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1272581	NC_000001.11:g.24364647T>C	GRHL3, STPG1	Single nucleotide variant (intron variant)	not provided	GBenign

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Items: 51