ClinVar for MedGen (Select 338272) - ClinVar

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Items: 62

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 3018328	NM_198173.3(GRHL3):c.1531G>A (p.Asp511Asn)	GRHL3 (D511N +2 more)	Single nucleotide variant (missense variant)	Van der Woude syndrome 2	GLikely benign
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 2887715	NM_198173.3(GRHL3):c.1385A>G (p.Asn462Ser)	GRHL3 (N416S +2 more)	Single nucleotide variant (missense variant)	Van der Woude syndrome 2	GBenign
Select item 2858936	NM_198173.3(GRHL3):c.1534C>T (p.Leu512Phe)	GRHL3 (L466F +2 more)	Single nucleotide variant (missense variant)	Van der Woude syndrome 2	GLikely benign
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 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 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 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 2672271	NM_001378189.1(CFAP57):c.176G>T (p.Gly59Val)	CFAP57 (G59V)	Single nucleotide variant (missense variant)	Van der Woude syndrome 2	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 2415956	NM_198173.3(GRHL3):c.1047+9T>G	GRHL3	Single nucleotide variant (intron variant)	Van der Woude syndrome 2	GBenign
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 2152180	NM_198173.3(GRHL3):c.204+14del	GRHL3	Deletion (intron variant)	Van der Woude syndrome 2	GBenign
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 2150740	NC_000001.11:g.24364216C>T	GRHL3, STPG1 (R576C)	Single nucleotide variant (missense variant +1 more)	Van der Woude syndrome 2	GUncertain significance
Select item 2146398	NM_198174.3(GRHL3):c.1718G>A (p.Arg573His)	GRHL3, STPG1 (R573H)	Single nucleotide variant (missense variant +1 more)	Van der Woude syndrome 2	GBenign
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 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 2048851	NM_198173.3(GRHL3):c.204+13C>G	GRHL3	Single nucleotide variant (intron variant)	Van der Woude syndrome 2	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 2035138	NM_198173.3(GRHL3):c.1287C>T (p.Gly429=)	GRHL3	Single nucleotide variant (synonymous variant)	Van der Woude syndrome 2	GLikely benign
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 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 1927033	NM_198173.3(GRHL3):c.686+11C>A	GRHL3	Single nucleotide variant (intron variant)	Van der Woude syndrome 2	GLikely benign
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 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 1611093	NM_198173.3(GRHL3):c.1430C>T (p.Ser477Leu)	GRHL3 (S431L +2 more)	Single nucleotide variant (missense variant)	Van der Woude syndrome 2 +1 more	GBenign
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 1592750	NM_198173.3(GRHL3):c.1419+10G>A	GRHL3	Single nucleotide variant (intron variant)	Van der Woude syndrome 2	GLikely benign
Select item 1251960	NM_198174.3(GRHL3):c.1806G>A (p.Trp602Ter)	GRHL3, STPG1 (W602*)	Single nucleotide variant (nonsense +1 more)	Van der Woude syndrome 2	GUncertain significance
Select item 1166315	NM_198173.3(GRHL3):c.1469G>A (p.Arg490His)	GRHL3 (R444H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
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 1164479	NC_000001.11:g.24364274T>A	GRHL3, STPG1 (M595K)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	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 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 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 1068818	NM_198173.3(GRHL3):c.1419+1G>A	GRHL3	Single nucleotide variant (splice donor variant)	Van der Woude syndrome 2	GPathogenic
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 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 790225	NM_198173.3(GRHL3):c.1159C>T (p.Arg387Cys)	GRHL3 (R341C +2 more)	Single nucleotide variant (missense variant)	Van der Woude syndrome 2 +1 more	GConflicting classifications of pathogenicity
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 715096	NM_198173.3(GRHL3):c.612+9G>A	GRHL3	Single nucleotide variant (intron variant)	Van der Woude syndrome 2	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 703367	NM_198173.3(GRHL3):c.471C>T (p.Ala157=)	GRHL3	Single nucleotide variant (synonymous variant)	Van der Woude syndrome 2	GBenign
Select item 702169	NM_198173.3(GRHL3):c.1439C>A (p.Pro480His)	GRHL3 (P434H +2 more)	Single nucleotide variant (missense variant)	Van der Woude syndrome 2 +1 more	GBenign
Select item 702168	NM_198173.3(GRHL3):c.1368C>T (p.Pro456=)	GRHL3	Single nucleotide variant (synonymous variant)	Van der Woude syndrome 2 +1 more	GBenign
Select item 697776	NM_198173.3(GRHL3):c.1363C>G (p.Pro455Ala)	GRHL3 (P409A +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 697696	NM_198173.3(GRHL3):c.800C>G (p.Ala267Gly)	GRHL3 (A272G +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
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 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 465249	NM_198173.3(GRHL3):c.1451A>G (p.Asn484Ser)	GRHL3 (N438S +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
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 218865	NM_198174.3(GRHL3):c.1696G>A (p.Glu566Lys)	GRHL3, STPG1 (E566K)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GBenign
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 101519	NM_198173.3(GRHL3):c.1419+1G>T	GRHL3	Single nucleotide variant (splice donor variant)	Van der Woude syndrome 2	GPathogenic
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 101517	NM_198173.3(GRHL3):c.1563_1566del (p.Glu522fs)	GRHL3 (E476fs +2 more)	Microsatellite (frameshift variant)	Van der Woude syndrome 2	GPathogenic
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 31150	NM_001378189.1(CFAP57):c.1567G>T (p.Asp523Tyr)	CFAP57, LOC126805719 (D523Y)	Single nucleotide variant (missense variant)	Van der Woude syndrome 2	GUncertain significance

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Items: 62