ClinVar for Gene (Select 57822) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3171550	NM_001199013.2(STPG1):c.887G>A (p.Arg296Gln)	GRHL3, STPG1 (R296Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3171549	NM_001199013.2(STPG1):c.878A>G (p.Asn293Ser)	GRHL3, STPG1 (N201S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3171548	NM_001199013.2(STPG1):c.848A>G (p.His283Arg)	GRHL3, STPG1 (H236R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 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 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 3102298	NM_198173.3(GRHL3):c.1520C>G (p.Ala507Gly)	GRHL3 (A461G +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3102296	NM_198173.3(GRHL3):c.1408C>T (p.Arg470Cys)	GRHL3 (R475C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3102295	NM_198173.3(GRHL3):c.1369G>A (p.Val457Met)	GRHL3 (V411M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3102294	NM_198173.3(GRHL3):c.1340G>T (p.Arg447Leu)	GRHL3 (R401L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3102293	NM_198173.3(GRHL3):c.1307C>T (p.Ser436Leu)	GRHL3 (S390L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 3059162	NM_198173.3(GRHL3):c.847del (p.Val282_Val283insTer)	GRHL3	Deletion (nonsense)	GRHL3-related condition	GLikely pathogenic
Select item 3057926	NM_198173.3(GRHL3):c.621C>T (p.Leu207=)	GRHL3	Single nucleotide variant (synonymous variant)	GRHL3-related condition	GLikely benign
Select item 3052830	NM_198173.3(GRHL3):c.595A>G (p.Lys199Glu)	GRHL3 (K153E +2 more)	Single nucleotide variant (missense variant)	GRHL3-related condition	GUncertain significance
Select item 3052290	NM_198173.3(GRHL3):c.552T>C (p.His184=)	GRHL3	Single nucleotide variant (synonymous variant)	GRHL3-related condition	GLikely benign
Select item 3051927	NM_198173.3(GRHL3):c.960C>T (p.Cys320=)	GRHL3	Single nucleotide variant (synonymous variant)	GRHL3-related condition	GLikely benign
Select item 3049793	NM_198173.3(GRHL3):c.1587G>A (p.Ala529=)	GRHL3	Single nucleotide variant (synonymous variant)	GRHL3-related condition	GLikely benign
Select item 3049006	NM_198173.3(GRHL3):c.1207-8C>T	GRHL3	Single nucleotide variant (intron variant)	GRHL3-related condition	GLikely benign
Select item 3047065	NM_198173.3(GRHL3):c.252T>C (p.Asn84=)	GRHL3	Single nucleotide variant (synonymous variant)	GRHL3-related condition	GLikely benign
Select item 3045146	NM_198173.3(GRHL3):c.879A>G (p.Pro293=)	GRHL3	Single nucleotide variant (synonymous variant)	GRHL3-related condition	GLikely benign
Select item 3044581	NM_198173.3(GRHL3):c.465G>T (p.Leu155=)	GRHL3	Single nucleotide variant (synonymous variant)	GRHL3-related condition	GLikely benign
Select item 3043950	NM_001199013.2(STPG1):c.738-3306C>T	STPG1, GRHL3	Single nucleotide variant (synonymous variant +1 more)	GRHL3-related condition	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 condition	GLikely benign
Select item 3032243	NM_198173.3(GRHL3):c.1482C>T (p.Pro494=)	GRHL3	Single nucleotide variant (synonymous variant)	GRHL3-related condition	GLikely benign
Select item 3030352	NM_198173.3(GRHL3):c.1431G>A (p.Ser477=)	GRHL3	Single nucleotide variant (synonymous variant)	GRHL3-related condition	GLikely benign
Select item 3025145	NM_001199013.2(STPG1):c.738-3216C>T	GRHL3, STPG1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 2685377	GRCh37/hg19 1p36.11(chr1:24680971-25029622)x1	GRHL3, NCMAP +4 more	Copy number loss	not provided	GUncertain significance
Select item 2664871	GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	LOC129929105, LOC129929106 +2149 more	Copy number gain	Trisomy 12p	GPathogenic
Select item 2635217	NM_198173.3(GRHL3):c.1708A>G (p.Met570Val)	GRHL3 (M524V +2 more)	Single nucleotide variant (missense variant +1 more)	GRHL3-related condition	GUncertain significance
Select item 2634332	NM_198173.3(GRHL3):c.862G>C (p.Asp288His)	GRHL3 (D242H +2 more)	Single nucleotide variant (missense variant)	GRHL3-related condition	GUncertain significance
Select item 2631234	NM_198173.3(GRHL3):c.938G>C (p.Arg313Pro)	GRHL3 (R267P +2 more)	Single nucleotide variant (missense variant)	GRHL3-related condition	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)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2628968	NM_198173.3(GRHL3):c.1392C>A (p.His464Gln)	GRHL3 (H418Q +2 more)	Single nucleotide variant (missense variant)	GRHL3-related condition	GUncertain significance
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 2614030	NM_198173.3(GRHL3):c.1363C>T (p.Pro455Ser)	GRHL3 (P455S +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
Select item 2544115	NM_198173.3(GRHL3):c.1498G>A (p.Glu500Lys)	GRHL3 (E505K +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 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 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 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 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 2455364	NM_198173.3(GRHL3):c.1468C>T (p.Arg490Cys)	GRHL3 (R444C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2422561	NC_000001.10:g.(?_19199339)_(24690861_?)dup	AKR7A2, AKR7A3 +77 more	Duplication	Deficiency of hydroxymethylglutaryl-CoA lyase	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 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 2384364	NM_198173.3(GRHL3):c.1501C>T (p.Pro501Ser)	GRHL3 (P455S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2375034	NM_198173.3(GRHL3):c.1328C>T (p.Thr443Met)	GRHL3 (T443M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 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 2241228	NM_198173.3(GRHL3):c.572G>A (p.Arg191His)	GRHL3 (R191H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2236959	NM_001199013.2(STPG1):c.841C>T (p.Arg281Cys)	GRHL3, STPG1 (R189C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	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 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	NM_001199013.2(STPG1):c.738-3175G>A	GRHL3, STPG1 (R576C)	Single nucleotide variant (missense variant +1 more)	Van der Woude syndrome 2	GUncertain significance
Select item 2146398	NM_001199013.2(STPG1):c.738-3167C>T	GRHL3, STPG1 (R573H)	Single nucleotide variant (missense variant +1 more)	GRHL3-related condition +1 more	GBenign/Likely benign
Select item 2057464	NM_198173.3(GRHL3):c.790C>T (p.Arg264Trp)	GRHL3 (R218W +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +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 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 1809397	GRCh37/hg19 1p36.11(chr1:24111388-24686443)x3	CNR2, FUCA1 +11 more	Copy number gain	not provided	GUncertain significance
Select item 1808979	GRCh37/hg19 1p36.11(chr1:24363507-24875537)x3	GRHL3, IFNLR1 +5 more	Copy number gain	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 1706822	NM_198173.3(GRHL3):c.1206+135C>T	GRHL3	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 1706483	GRCh37/hg19 1p36.11(chr1:24531639-24749706)x1	GRHL3, NIPAL3 +1 more	Copy number loss	See cases	GPathogenic
Select item 1623453	NM_198173.3(GRHL3):c.614C>T (p.Ser205Leu)	GRHL3 (S159L +2 more)	Single nucleotide variant (missense variant)	GRHL3-related condition +1 more	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	GBenign
Select item 1601665	NM_198173.3(GRHL3):c.686+13C>T	GRHL3	Single nucleotide variant (intron variant)	Van der Woude syndrome 2	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 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 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 1295139	NM_198173.3(GRHL3):c.267-253dup	GRHL3	Duplication (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 1289265	NM_198173.3(GRHL3):c.1695-253C>T	GRHL3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1281010	NM_198173.3(GRHL3):c.1048-209C>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 1280059	NM_198173.3(GRHL3):c.17+329C>A	GRHL3, GRHL3-AS1	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 1276904	NM_198173.3(GRHL3):c.267-69G>C	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

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