"GeneDx"[submitter] AND "GRHL2"[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 119

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144949	GRCh38/hg38 8q22.1-24.3(chr8:94682154-145068656)x3	LOC130001226, LOC130001227 +1407 more	Copy number gain	See cases	GPathogenic
Select item 1278689	NC_000008.11:g.101492283G>A	GRHL2, GRHL2-DT	Single nucleotide variant	not provided	GBenign
Select item 1222504	NC_000008.11:g.101492313C>T	GRHL2, GRHL2-DT	Single nucleotide variant	not provided	GBenign
Select item 1187735	NM_024915.4(GRHL2):c.-207C>T	GRHL2, GRHL2-DT	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 508097	NM_024915.4(GRHL2):c.-24C>G	GRHL2	Single nucleotide variant (5 prime UTR variant)	Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome +4 more	GBenign
Select item 515261	NM_024915.4(GRHL2):c.-23G>C	GRHL2	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 1246996	NM_024915.4(GRHL2):c.20+651_20+663del	GRHL2	Deletion (intron variant)	not provided	GBenign
Select item 1291945	NM_024915.4(GRHL2):c.20+674C>G	GRHL2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1243960	NM_024915.4(GRHL2):c.20+688A>G	GRHL2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1253285	NM_024915.4(GRHL2):c.20+772C>T	GRHL2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1286039	NM_024915.4(GRHL2):c.21-168A>G	GRHL2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1188420	NM_024915.4(GRHL2):c.21-24C>T	GRHL2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 46218	NM_024915.4(GRHL2):c.26A>G (p.Lys9Arg)	GRHL2 (K9R)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 2068234	NM_024915.4(GRHL2):c.69C>G (p.Phe23Leu)	GRHL2 (F23L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2576775	NM_024915.4(GRHL2):c.81A>G (p.Arg27=)	GRHL2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 505366	NM_024915.4(GRHL2):c.83C>G (p.Ala28Gly)	GRHL2 (A28G +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3367341	NM_024915.4(GRHL2):c.132G>C (p.Leu44=)	GRHL2	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1307155	NM_024915.4(GRHL2):c.136G>A (p.Ala46Thr)	GRHL2 (A30T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1287904	NM_024915.4(GRHL2):c.216+93G>A	GRHL2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1279381	NM_024915.4(GRHL2):c.216+229G>A	GRHL2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1198331	NM_024915.4(GRHL2):c.217-58T>C	GRHL2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1710810	NM_024915.4(GRHL2):c.223C>T (p.Arg75Ter)	GRHL2 (R59* +1 more)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 2500654	NM_024915.4(GRHL2):c.256A>G (p.Ser86Gly)	GRHL2 (S70G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1287326	NM_024915.4(GRHL2):c.285-248T>G	GRHL2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1276289	NM_024915.4(GRHL2):c.285-168T>G	GRHL2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1697990	NM_024915.4(GRHL2):c.303T>A (p.Ser101Arg)	GRHL2 (S101R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1312680	NM_024915.4(GRHL2):c.406C>T (p.Arg136Trp)	GRHL2 (R120W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 681159	NM_024915.4(GRHL2):c.417C>T (p.Tyr139=)	GRHL2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2663026	NM_024915.4(GRHL2):c.429C>G (p.Phe143Leu)	GRHL2 (F127L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1310900	NM_024915.4(GRHL2):c.437G>A (p.Ser146Asn)	GRHL2 (S130N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1307574	NM_024915.4(GRHL2):c.442G>A (p.Ala148Thr)	GRHL2 (A132T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 667118	NM_024915.4(GRHL2):c.454G>A (p.Val152Met)	GRHL2 (V136M +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 163646	NM_024915.4(GRHL2):c.543G>A (p.Glu181=)	GRHL2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 178378	NM_024915.4(GRHL2):c.548G>A (p.Arg183Gln)	GRHL2 (R183Q +1 more)	Single nucleotide variant (missense variant)	Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome +4 more	GUncertain significance
Select item 1306999	NM_024915.4(GRHL2):c.592G>A (p.Ala198Thr)	GRHL2 (A182T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2907837	NM_024915.4(GRHL2):c.596C>A (p.Thr199Asn)	GRHL2 (T183N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2576782	NM_024915.4(GRHL2):c.637G>A (p.Asp213Asn)	GRHL2 (D197N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 46220	NM_024915.4(GRHL2):c.651C>T (p.Ser217=)	GRHL2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1331260	NM_024915.4(GRHL2):c.686G>A (p.Arg229Gln)	GRHL2 (R213Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 46221	NM_024915.4(GRHL2):c.689G>A (p.Ser230Asn)	GRHL2 (S230N +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign/Likely benign
Select item 1214785	NM_024915.4(GRHL2):c.734+246C>A	GRHL2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1289338	NM_024915.4(GRHL2):c.734+253del	GRHL2	Deletion (intron variant)	not provided	GBenign
Select item 1287103	NM_024915.4(GRHL2):c.734+253A>C	GRHL2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1284143	NM_024915.4(GRHL2):c.735-90G>A	GRHL2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 227417	NM_024915.4(GRHL2):c.804C>T (p.Thr268=)	GRHL2	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 227418	NM_024915.4(GRHL2):c.816A>G (p.Lys272=)	GRHL2	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 1220567	NM_024915.4(GRHL2):c.891+297A>G	GRHL2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1296927	NM_024915.4(GRHL2):c.892-217dup	GRHL2	Duplication (intron variant)	not provided	GBenign
Select item 2506691	NM_024915.4(GRHL2):c.914G>T (p.Ser305Ile)	GRHL2 (S289I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1309990	NM_024915.4(GRHL2):c.980C>T (p.Ala327Val)	GRHL2 (A311V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 810307	NM_024915.4(GRHL2):c.987G>A (p.Gln329=)	GRHL2	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 1284114	NM_024915.4(GRHL2):c.1003+192C>T	GRHL2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1196272	NM_024915.4(GRHL2):c.1004-96G>A	GRHL2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 46214	NM_024915.4(GRHL2):c.1098+9C>T	GRHL2	Single nucleotide variant (intron variant)	not provided +4 more	GBenign/Likely benign
Select item 1216144	NM_024915.4(GRHL2):c.1098+42C>A	GRHL2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1191271	NM_024915.4(GRHL2):c.1099-189A>T	GRHL2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 682344	NM_024915.4(GRHL2):c.1152G>A (p.Val384=)	GRHL2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1375452	NM_024915.4(GRHL2):c.1202G>A (p.Arg401His)	GRHL2 (R401H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 46215	NM_024915.4(GRHL2):c.1243G>A (p.Val415Ile)	GRHL2 (V415I +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 1201866	NM_024915.4(GRHL2):c.1245C>T (p.Val415=)	GRHL2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1281097	NM_024915.4(GRHL2):c.1257+204dup	GRHL2	Duplication (intron variant)	not provided	GBenign
Select item 1287507	NM_024915.4(GRHL2):c.1257+204del	GRHL2	Deletion (intron variant)	not provided	GBenign
Select item 1252482	NM_024915.4(GRHL2):c.1258-47T>C	GRHL2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 620467	NM_024915.4(GRHL2):c.1264G>T (p.Glu422Ter)	GRHL2 (E422* +1 more)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 3340328	NM_024915.4(GRHL2):c.1334A>G (p.Gln445Arg)	GRHL2 (Q429R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 675043	NM_024915.4(GRHL2):c.1345+26C>T	GRHL2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1223384	NM_024915.4(GRHL2):c.1345+124C>T	GRHL2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2497851	NM_024915.4(GRHL2):c.1389T>A (p.Ser463Arg)	GRHL2 (S447R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 227416	NM_024915.4(GRHL2):c.1416T>C (p.Pro472=)	GRHL2	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 1217670	NM_024915.4(GRHL2):c.1485+173C>T	GRHL2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1214989	NM_024915.4(GRHL2):c.1486-213T>C	GRHL2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1253266	NM_024915.4(GRHL2):c.1486-208A>C	GRHL2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1285727	NM_024915.4(GRHL2):c.1486-172AC[23]	GRHL2	Microsatellite (intron variant)	not provided	GBenign
Select item 1247154	NM_024915.4(GRHL2):c.1486-172AC[22]	GRHL2	Microsatellite (intron variant)	not provided	GBenign
Select item 1235213	NM_024915.4(GRHL2):c.1486-172AC[24]	GRHL2	Microsatellite (intron variant)	not provided	GBenign
Select item 1193957	NM_024915.4(GRHL2):c.1486-172AC[25]	GRHL2	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1265304	NM_024915.4(GRHL2):c.1486-172AC[20]	GRHL2	Microsatellite (intron variant)	not provided	GBenign
Select item 1221786	NM_024915.4(GRHL2):c.1486-172AC[18]	GRHL2	Microsatellite (intron variant)	not provided	GBenign
Select item 2190347	NM_024915.4(GRHL2):c.1486-10T>G	GRHL2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 163648	NM_024915.4(GRHL2):c.1500G>A (p.Thr500=)	GRHL2	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 163649	NM_024915.4(GRHL2):c.1517+12A>G	GRHL2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1189408	NM_024915.4(GRHL2):c.1517+35A>G	GRHL2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1197953	NM_024915.4(GRHL2):c.1517+66C>T	GRHL2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1214860	NM_024915.4(GRHL2):c.1517+119C>G	GRHL2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1196197	NM_024915.4(GRHL2):c.1517+145G>C	GRHL2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1255292	NM_024915.4(GRHL2):c.1517+148C>T	GRHL2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1239946	NM_024915.4(GRHL2):c.1517+271G>C	GRHL2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1216197	NM_024915.4(GRHL2):c.1518-259G>C	GRHL2, LOC126860461	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1244131	NM_024915.4(GRHL2):c.1518-230G>T	GRHL2, LOC126860461	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1185735	NM_024915.4(GRHL2):c.1518-160C>T	GRHL2, LOC126860461	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1192796	NM_024915.4(GRHL2):c.1518-42C>T	GRHL2, LOC126860461	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1303545	NM_024915.4(GRHL2):c.1547G>A (p.Arg516Gln)	GRHL2, LOC126860461 (R500Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 178610	NM_024915.4(GRHL2):c.1572A>G (p.Pro524=)	GRHL2, LOC126860461	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1283539	NM_024915.4(GRHL2):c.1612+17G>A	GRHL2, LOC126860461	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1271225	NM_024915.4(GRHL2):c.1612+192C>T	GRHL2, LOC126860461	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1197452	NM_024915.4(GRHL2):c.1612+231C>T	GRHL2, LOC126860461	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1225924	NM_024915.4(GRHL2):c.1613-234C>T	GRHL2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1202736	NM_024915.4(GRHL2):c.1641C>T (p.Asp547=)	GRHL2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1183027	NM_024915.4(GRHL2):c.1698+174T>A	GRHL2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1251082	NM_024915.4(GRHL2):c.1699-113_1699-111dup	GRHL2	Duplication (intron variant)	not provided	GBenign

<< First< Prev

Page of 2