57822[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2664871	GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	A2ML1-AS2, A3GALT2 +2151 more	Copy number gain	Trisomy 12p	GPathogenic
Select item 2855848	NM_198173.3(GRHL3):c.17+13C>G	GRHL3, GRHL3-AS1	Single nucleotide variant (5 prime UTR variant +1 more)	Van der Woude syndrome 2	GLikely benign
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 1172584	NM_198173.3(GRHL3):c.22A>G (p.Arg8Gly)	GRHL3 (R13G +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Isolated cleft palate	GLikely pathogenic
Select item 1172585	NM_198173.3(GRHL3):c.32G>A (p.Arg11Gln)	GRHL3 (R11Q +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2259931	NM_198173.3(GRHL3):c.100A>G (p.Thr34Ala)	GRHL3 (T39A +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2629634	NM_198173.3(GRHL3):c.116C>T (p.Pro39Leu)	GRHL3 (P39L +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	GRHL3-related disorder +1 more	GUncertain significance
Select item 2200179	NM_198173.3(GRHL3):c.117G>A (p.Pro39=)	GRHL3	Single nucleotide variant (5 prime UTR variant +1 more)	Van der Woude syndrome 2	GLikely benign
Select item 1879081	NM_198173.3(GRHL3):c.134_152dup (p.Asn51fs)	GRHL3 (N51fs +2 more)	Duplication (frameshift variant +1 more)	not provided	GLikely pathogenic
Select item 666838	NM_198173.3(GRHL3):c.140T>C (p.Met47Thr)	GRHL3 (M47T +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
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 774003	NM_198173.3(GRHL3):c.174G>A (p.Ala58=)	GRHL3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2006242	NM_198173.3(GRHL3):c.204+2T>C	GRHL3	Single nucleotide variant (splice donor variant)	Van der Woude syndrome 2	GLikely pathogenic
Select item 2152180	NM_198173.3(GRHL3):c.204+14del	GRHL3	Deletion (intron variant)	Van der Woude syndrome 2	GBenign
Select item 2048851	NM_198173.3(GRHL3):c.204+13C>G	GRHL3	Single nucleotide variant (intron variant)	Van der Woude syndrome 2	GBenign
Select item 1229943	NM_198173.3(GRHL3):c.205-219C>T	GRHL3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 932032	NM_198173.3(GRHL3):c.205-3C>A	GRHL3	Single nucleotide variant (intron variant)	Van der Woude syndrome 2	GConflicting classifications of pathogenicity
Select item 1953463	NM_198173.3(GRHL3):c.221G>A (p.Arg74Gln)	GRHL3 (R79Q +2 more)	Single nucleotide variant (missense variant)	Van der Woude syndrome 2	GBenign
Select item 3102299	NM_198173.3(GRHL3):c.239C>T (p.Thr80Ile)	GRHL3 (T80I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3047065	NM_198173.3(GRHL3):c.252T>C (p.Asn84=)	GRHL3	Single nucleotide variant (synonymous variant)	GRHL3-related disorder	GLikely benign
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 2384000	NM_198173.3(GRHL3):c.268T>A (p.Tyr90Asn)	GRHL3 (Y44N +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 3102300	NM_198173.3(GRHL3):c.293C>T (p.Thr98Met)	GRHL3 (T103M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3235927	NM_198173.3(GRHL3):c.318dup (p.Thr107fs)	GRHL3 (T107fs +2 more)	Duplication (frameshift variant)	Van der Woude syndrome 2	GLikely pathogenic
Select item 1896571	NM_198173.3(GRHL3):c.318C>T (p.Pro106=)	GRHL3	Single nucleotide variant (synonymous variant)	Van der Woude syndrome 2	GLikely benign
Select item 2806347	NM_198173.3(GRHL3):c.348C>T (p.Asn116=)	GRHL3	Single nucleotide variant (synonymous variant)	Van der Woude syndrome 2	GLikely benign
Select item 3282678	NM_198173.3(GRHL3):c.349G>A (p.Val117Met)	GRHL3 (V117M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2477120	NM_198173.3(GRHL3):c.356G>C (p.Gly119Ala)	GRHL3 (G73A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3044581	NM_198173.3(GRHL3):c.465G>T (p.Leu155=)	GRHL3	Single nucleotide variant (synonymous variant)	GRHL3-related disorder	GLikely benign
Select item 703367	NM_198173.3(GRHL3):c.471C>T (p.Ala157=)	GRHL3	Single nucleotide variant (synonymous variant)	Van der Woude syndrome 2	GBenign
Select item 2987893	NM_198173.3(GRHL3):c.472G>A (p.Gly158Ser)	GRHL3 (G158S +2 more)	Single nucleotide variant (missense variant)	Van der Woude syndrome 2	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 707227	NM_198173.3(GRHL3):c.507T>C (p.Asp169=)	GRHL3	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1062655	NM_198173.3(GRHL3):c.550C>G (p.His184Asp)	GRHL3 (H138D +2 more)	Single nucleotide variant (missense variant)	Van der Woude syndrome 2	GUncertain significance
Select item 3052290	NM_198173.3(GRHL3):c.552T>C (p.His184=)	GRHL3	Single nucleotide variant (synonymous variant)	GRHL3-related disorder	GLikely benign
Select item 3036446	NM_198173.3(GRHL3):c.560C>T (p.Pro187Leu)	GRHL3 (P141L +2 more)	Single nucleotide variant (missense variant)	GRHL3-related disorder	GLikely benign
Select item 723975	NM_198173.3(GRHL3):c.564C>G (p.Pro188=)	GRHL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2400483	NM_198173.3(GRHL3):c.571C>T (p.Arg191Cys)	GRHL3 (R145C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 3052830	NM_198173.3(GRHL3):c.595A>G (p.Lys199Glu)	GRHL3 (K153E +2 more)	Single nucleotide variant (missense variant)	GRHL3-related disorder	GUncertain significance
Select item 702796	NM_198173.3(GRHL3):c.606A>T (p.Pro202=)	GRHL3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 715096	NM_198173.3(GRHL3):c.612+9G>A	GRHL3	Single nucleotide variant (intron variant)	Van der Woude syndrome 2	GBenign
Select item 1623453	NM_198173.3(GRHL3):c.614C>T (p.Ser205Leu)	GRHL3 (S159L +2 more)	Single nucleotide variant (missense variant)	Van der Woude syndrome 2	GLikely benign
Select item 3057926	NM_198173.3(GRHL3):c.621C>T (p.Leu207=)	GRHL3	Single nucleotide variant (synonymous variant)	GRHL3-related disorder	GLikely benign
Select item 2367535	NM_198173.3(GRHL3):c.646C>T (p.Pro216Ser)	GRHL3 (P216S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1146016	NM_198173.3(GRHL3):c.672C>T (p.Tyr224=)	GRHL3	Single nucleotide variant (synonymous variant)	Van der Woude syndrome 2	GLikely benign
Select item 1927033	NM_198173.3(GRHL3):c.686+11C>A	GRHL3	Single nucleotide variant (intron variant)	Van der Woude syndrome 2	GLikely benign
Select item 1601665	NM_198173.3(GRHL3):c.686+13C>T	GRHL3	Single nucleotide variant (intron variant)	Van der Woude syndrome 2 +1 more	GBenign
Select item 2045209	NM_198173.3(GRHL3):c.686+18G>C	GRHL3	Single nucleotide variant (intron variant)	Van der Woude syndrome 2	GLikely benign
Select item 1266140	NM_198173.3(GRHL3):c.687-161G>A	GRHL3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2432271	NM_198173.3(GRHL3):c.720C>T (p.Ala240=)	GRHL3	Single nucleotide variant (synonymous variant)	Van der Woude syndrome 2	GUncertain significance
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 774992	NM_198173.3(GRHL3):c.759C>G (p.Leu253=)	GRHL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2616775	NM_198173.3(GRHL3):c.763A>G (p.Lys255Glu)	GRHL3 (K255E +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 790224	NM_198173.3(GRHL3):c.781G>A (p.Val261Ile)	GRHL3 (V215I +2 more)	Single nucleotide variant (missense variant)	Van der Woude syndrome 2	GBenign
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 2057464	NM_198173.3(GRHL3):c.790C>T (p.Arg264Trp)	GRHL3 (R218W +2 more)	Single nucleotide variant (missense variant)	Van der Woude syndrome 2 +1 more	GUncertain significance
Select item 2759274	NM_198173.3(GRHL3):c.797C>T (p.Pro266Leu)	GRHL3 (P220L +2 more)	Single nucleotide variant (missense variant)	Van der Woude syndrome 2	GUncertain significance
Select item 697696	NM_198173.3(GRHL3):c.800C>G (p.Ala267Gly)	GRHL3 (A272G +2 more)	Single nucleotide variant (missense variant)	Van der Woude syndrome 2 +1 more	GBenign
Select item 219244	NM_198173.3(GRHL3):c.840+1G>T	GRHL3	Single nucleotide variant (splice donor variant)	Isolated cleft palate	GPathogenic
Select item 3059162	NM_198173.3(GRHL3):c.847del (p.Val282_Val283insTer)	GRHL3	Deletion (nonsense)	GRHL3-related disorder	GLikely pathogenic
Select item 2634332	NM_198173.3(GRHL3):c.862G>C (p.Asp288His)	GRHL3 (D242H +2 more)	Single nucleotide variant (missense variant)	GRHL3-related disorder	GUncertain significance
Select item 3045146	NM_198173.3(GRHL3):c.879A>G (p.Pro293=)	GRHL3	Single nucleotide variant (synonymous variant)	GRHL3-related disorder	GLikely benign
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 101518	NM_198173.3(GRHL3):c.893G>A (p.Arg298His)	GRHL3 (R298H +2 more)	Single nucleotide variant (missense variant)	Van der Woude syndrome 2	GPathogenic
Select item 465251	NM_198173.3(GRHL3):c.899G>A (p.Trp300Ter)	GRHL3 (W254* +2 more)	Single nucleotide variant (nonsense)	Van der Woude syndrome 2	GPathogenic
Select item 219245	NM_198173.3(GRHL3):c.916dup (p.Arg306fs)	GRHL3 (R260fs +2 more)	Duplication (frameshift variant)	Isolated cleft palate	GPathogenic
Select item 2455567	NM_198173.3(GRHL3):c.928G>A (p.Ala310Thr)	GRHL3 (A264T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2056793	NM_198173.3(GRHL3):c.933G>A (p.Lys311=)	GRHL3	Single nucleotide variant (synonymous variant)	Van der Woude syndrome 2	GLikely benign
Select item 3102301	NM_198173.3(GRHL3):c.934C>T (p.Gln312Ter)	GRHL3 (Q312* +2 more)	Single nucleotide variant (nonsense)	Inborn genetic diseases	GPathogenic
Select item 2631234	NM_198173.3(GRHL3):c.938G>C (p.Arg313Pro)	GRHL3 (R267P +2 more)	Single nucleotide variant (missense variant)	GRHL3-related disorder	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 3051927	NM_198173.3(GRHL3):c.960C>T (p.Cys320=)	GRHL3	Single nucleotide variant (synonymous variant)	GRHL3-related disorder	GLikely benign
Select item 101516	NM_198173.3(GRHL3):c.970_971insGT (p.Phe324fs)	GRHL3 (F324fs +2 more)	Insertion (frameshift variant)	Van der Woude syndrome 2	GPathogenic
Select item 2522501	NM_198173.3(GRHL3):c.1034A>C (p.Asn345Thr)	GRHL3 (N350T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2415956	NM_198173.3(GRHL3):c.1047+9T>G	GRHL3	Single nucleotide variant (intron variant)	Van der Woude syndrome 2	GBenign
Select item 1281010	NM_198173.3(GRHL3):c.1048-209C>T	GRHL3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2238933	NM_198173.3(GRHL3):c.1057G>A (p.Gly353Ser)	GRHL3 (G307S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 3062261	NM_198173.3(GRHL3):c.1115del (p.Leu372fs)	GRHL3 (L326fs +2 more)	Deletion (frameshift variant)	Van der Woude syndrome 2	GLikely pathogenic
Select item 790225	NM_198173.3(GRHL3):c.1159C>T (p.Arg387Cys)	GRHL3 (R341C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 101520	NM_198173.3(GRHL3):c.1171C>T (p.Arg391Cys)	GRHL3 (R391C +2 more)	Single nucleotide variant (missense variant)	Van der Woude syndrome 2	GLikely pathogenic
Select item 1172586	NM_198173.3(GRHL3):c.1172G>A (p.Arg391His)	GRHL3 (R345H +2 more)	Single nucleotide variant (missense variant)	Isolated cleft palate	GPathogenic
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 3049006	NM_198173.3(GRHL3):c.1207-8C>T	GRHL3	Single nucleotide variant (intron variant)	GRHL3-related disorder	GLikely benign
Select item 2151352	NM_198173.3(GRHL3):c.1223T>C (p.Met408Thr)	GRHL3 (M413T +2 more)	Single nucleotide variant (missense variant)	Van der Woude syndrome 2	GUncertain significance
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 2714323	NM_198173.3(GRHL3):c.1227C>T (p.Arg409=)	GRHL3	Single nucleotide variant (synonymous variant)	Van der Woude syndrome 2	GLikely benign
Select item 3233335	NM_198173.3(GRHL3):c.1250G>A (p.Arg417Gln)	GRHL3 (R371Q +2 more)	Single nucleotide variant (missense variant)	Van der Woude syndrome 2	GUncertain significance
Select item 2531583	NM_198173.3(GRHL3):c.1267C>T (p.Pro423Ser)	GRHL3 (P423S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2572982	NM_198173.3(GRHL3):c.1285G>T (p.Gly429Cys)	GRHL3 (G383C +2 more)	Single nucleotide variant (missense variant)	Van der Woude syndrome	GUncertain significance

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