79977[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153413	GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3	LOC130000015, LOC130000016 +3658 more	Copy number gain	See cases	GPathogenic
Select item 154791	GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	DEFA1B, DEFA3 +3658 more	Copy number gain	See cases	GPathogenic
Select item 59738	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3	LOC110121192, LOC110121196 +3656 more	Copy number gain	See cases	GPathogenic
Select item 57496	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3	AARD, ABRA +3652 more	Copy number gain	See cases	GPathogenic
Select item 149660	GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3	LOC130000067, LOC130000068 +3656 more	Copy number gain	See cases	GPathogenic
Select item 153737	GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3	GPAT4, GPAT4-AS1 +3106 more	Copy number gain	See cases	GPathogenic
Select item 150723	GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3	LOC130000897, LOC130000898 +1960 more	Copy number gain	See cases	GPathogenic
Select item 150141	GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3	PARP10, PCAT1 +1690 more	Copy number gain	See cases	GPathogenic
Select item 154530	GRCh38/hg38 8q21.13-24.3(chr8:78614077-145054634)x3	LOC130000867, LOC130000868 +1686 more	Copy number gain	See cases	GPathogenic
Select item 155592	GRCh38/hg38 8q21.2-24.3(chr8:85765999-145070385)x3	LOC130001282, LOC130001283 +1552 more	Copy number gain	See cases	GPathogenic
Select item 146316	GRCh38/hg38 8q21.3-24.23(chr8:86300584-137022587)x3	AARD, ABRA +1152 more	Copy number gain	See cases	GPathogenic
Select item 149554	GRCh38/hg38 8q21.3-24.3(chr8:87931152-145068712)x3	AARD, ABRA +1531 more	Copy number gain	See cases	GPathogenic
Select item 144949	GRCh38/hg38 8q22.1-24.3(chr8:94682154-145068656)x3	LOC130000908, LOC130000909 +1406 more	Copy number gain	See cases	GPathogenic
Select item 151754	GRCh38/hg38 8q22.1-24.3(chr8:97382873-145070385)x3	AARD, ABRA +1329 more	Copy number gain	See cases	GPathogenic
Select item 148247	GRCh38/hg38 8q22.2-22.3(chr8:99580206-101547228)x1	ANKRD46, COX6C +96 more	Copy number loss	See cases	GLikely pathogenic
Select item 153234	GRCh38/hg38 8q22.2-23.1(chr8:100179408-106524667)x1	LOC129390031, LOC129390032 +234 more	Copy number loss	See cases	GPathogenic
Select item 153231	GRCh38/hg38 8q22.3-24.3(chr8:100867343-145070385)x3	LOC130001243, LOC130001244 +1204 more	Copy number gain	See cases	GPathogenic
Select item 149076	GRCh38/hg38 8q22.3-23.1(chr8:101171263-109127664)x1	ABRA, ANGPT1 +188 more	Copy number loss	See cases	GPathogenic
Select item 147649	GRCh38/hg38 8q22.3-23.1(chr8:101199826-105802098)x1	ATP6V1C1, AZIN1 +154 more	Copy number loss	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)	Corneal dystrophy, posterior polymorphous, 4 +3 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 2691609	NM_024915.4(GRHL2):c.-4A>T	GRHL2	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 489405	NM_024915.4(GRHL2):c.20+133del	GRHL2	Deletion (intron variant)	Corneal dystrophy, posterior polymorphous, 4 +1 more	GPathogenic/Likely pathogenic
Select item 489404	NM_024915.4(GRHL2):c.20+257del	GRHL2	Deletion (intron variant)	Corneal dystrophy	GLikely pathogenic
Select item 2703368	NM_024915.4(GRHL2):c.20+544G>C	GRHL2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 489403	NM_024915.4(GRHL2):c.20+544G>T	GRHL2	Single nucleotide variant (intron variant)	Corneal dystrophy, posterior polymorphous, 4 +1 more	GPathogenic/Likely pathogenic
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 2881097	NM_024915.4(GRHL2):c.21-4A>G	GRHL2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1324514	NM_024915.4(GRHL2):c.21-2A>G	GRHL2	Single nucleotide variant (splice acceptor variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2635445	NM_024915.4(GRHL2):c.21-1G>A	GRHL2	Single nucleotide variant (splice acceptor variant)	GRHL2-related condition	GLikely pathogenic
Select item 46218	NM_024915.4(GRHL2):c.26A>G (p.Lys9Arg)	GRHL2 (K9R)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +1 more	GBenign
Select item 224835	NM_024915.4(GRHL2):c.34G>T (p.Val12Leu)	GRHL2 (V12L)	Single nucleotide variant (5 prime UTR variant +1 more)	Progressive sensorineural hearing impairment	GUncertain significance
Select item 1513130	NM_024915.4(GRHL2):c.50T>A (p.Met17Lys)	GRHL2 (M1K +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 1420619	NM_024915.4(GRHL2):c.77G>A (p.Arg26Gln)	GRHL2 (R10Q +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 specified +1 more	GUncertain significance
Select item 2873923	NM_024915.4(GRHL2):c.87C>T (p.Tyr29=)	GRHL2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2106663	NM_024915.4(GRHL2):c.193G>A (p.Gly65Ser)	GRHL2 (G65S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 178377	NM_024915.4(GRHL2):c.216+8C>T	GRHL2	Single nucleotide variant (intron variant)	not specified	GLikely benign
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 2531097	NM_024915.4(GRHL2):c.254C>T (p.Ala85Val)	GRHL2 (A85V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2267191	NM_024915.4(GRHL2):c.263G>A (p.Ser88Asn)	GRHL2 (S88N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 178828	NM_024915.4(GRHL2):c.285-14del	GRHL2	Deletion (intron variant)	not specified +1 more	GBenign
Select item 1897105	NM_024915.4(GRHL2):c.285-14G>A	GRHL2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2995655	NM_024915.4(GRHL2):c.298A>C (p.Thr100Pro)	GRHL2 (T100P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1697990	NM_024915.4(GRHL2):c.303T>A (p.Ser101Arg)	GRHL2 (S101R +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 505419	NM_024915.4(GRHL2):c.319T>A (p.Leu107Met)	GRHL2 (L107M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2983424	NM_024915.4(GRHL2):c.326GAG[1] (p.Gly110del)	GRHL2 (G94del +1 more)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 2838944	NM_024915.4(GRHL2):c.365T>G (p.Val122Gly)	GRHL2 (V106G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 46219	NM_024915.4(GRHL2):c.373T>G (p.Ser125Ala)	GRHL2 (S125A +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 666698	NM_024915.4(GRHL2):c.432C>T (p.Pro144=)	GRHL2	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
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 179468	NM_024915.4(GRHL2):c.449T>G (p.Ile150Ser)	GRHL2 (I150S +1 more)	Single nucleotide variant (missense variant)	not specified	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 2482335	NM_024915.4(GRHL2):c.521A>G (p.Tyr174Cys)	GRHL2 (Y158C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 163646	NM_024915.4(GRHL2):c.543G>A (p.Glu181=)	GRHL2	Single nucleotide variant (synonymous variant)	GRHL2-related condition +2 more	GLikely benign
Select item 178378	NM_024915.4(GRHL2):c.548G>A (p.Arg183Gln)	GRHL2 (R183Q +1 more)	Single nucleotide variant (missense variant)	not specified +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 2025889	NM_024915.4(GRHL2):c.619G>T (p.Asp207Tyr)	GRHL2 (D207Y +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 228733	NM_024915.4(GRHL2):c.641G>A (p.Ser214Asn)	GRHL2 (S214N +1 more)	Single nucleotide variant (missense variant)	Corneal dystrophy, posterior polymorphous, 4 +1 more	GUncertain significance
Select item 46220	NM_024915.4(GRHL2):c.651C>T (p.Ser217=)	GRHL2	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 2780224	NM_024915.4(GRHL2):c.669A>G (p.Ala223=)	GRHL2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2601572	NM_024915.4(GRHL2):c.673A>G (p.Thr225Ala)	GRHL2 (T209A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 1554635	NM_024915.4(GRHL2):c.678+7C>T	GRHL2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1938363	NM_024915.4(GRHL2):c.679-18A>T	GRHL2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2579054	NM_024915.4(GRHL2):c.679-4G>T	GRHL2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 504944	NM_024915.4(GRHL2):c.685C>T (p.Arg229Trp)	GRHL2 (R229W +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
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 2746977	NM_024915.4(GRHL2):c.753C>T (p.Thr251=)	GRHL2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2159970	NM_024915.4(GRHL2):c.775C>T (p.Arg259Cys)	GRHL2 (R259C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2860264	NM_024915.4(GRHL2):c.776G>A (p.Arg259His)	GRHL2 (R243H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2248152	NM_024915.4(GRHL2):c.788G>C (p.Gly263Ala)	GRHL2 (G263A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 425447	NM_024915.4(GRHL2):c.801del (p.Met267fs)	GRHL2 (M251fs +1 more)	Deletion (frameshift variant)	not provided	GLikely pathogenic

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