ClinVar for Gene (Select 79977) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3102292	NM_024915.4(GRHL2):c.752C>T (p.Thr251Ile)	GRHL2 (T235I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3102291	NM_024915.4(GRHL2):c.630C>A (p.Ser210Arg)	GRHL2 (S210R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3102290	NM_024915.4(GRHL2):c.527G>A (p.Arg176Gln)	GRHL2 (R176Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3102289	NM_024915.4(GRHL2):c.1094C>T (p.Ala365Val)	GRHL2 (A349V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3064767	NM_024915.4(GRHL2):c.1214C>A (p.Pro405His)	GRHL2 (P389H +1 more)	Single nucleotide variant (missense variant)	Corneal dystrophy, posterior polymorphous, 4	GUncertain significance
Select item 3063013	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	AARD, ABRA +665 more	Copy number gain	not specified	GPathogenic
Select item 3030376	NM_024915.4(GRHL2):c.1335A>G (p.Gln445=)	GRHL2	Single nucleotide variant (synonymous variant)	GRHL2-related disorder	GLikely benign
Select item 2997758	NM_024915.4(GRHL2):c.1609C>A (p.Arg537=)	GRHL2, LOC126860461	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2986385	NM_024915.4(GRHL2):c.1517+17T>C	GRHL2	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 2982279	NM_024915.4(GRHL2):c.1276C>T (p.Arg426Ter)	GRHL2 (R410* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2973345	NM_024915.4(GRHL2):c.1517+8A>T	GRHL2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2960492	NM_024915.4(GRHL2):c.1613-20C>T	GRHL2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2959215	NM_024915.4(GRHL2):c.892-18C>T	GRHL2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2956784	NM_024915.4(GRHL2):c.1841T>G (p.Met614Arg)	GRHL2 (M614R +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 2892699	NM_024915.4(GRHL2):c.1538G>A (p.Arg513Gln)	GRHL2, LOC126860461 (R497Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2881097	NM_024915.4(GRHL2):c.21-4A>G	GRHL2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2873923	NM_024915.4(GRHL2):c.87C>T (p.Tyr29=)	GRHL2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2860613	NM_024915.4(GRHL2):c.901A>T (p.Met301Leu)	GRHL2 (M301L +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 2855766	NM_024915.4(GRHL2):c.1843G>A (p.Val615Met)	GRHL2 (V599M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2855603	NM_024915.4(GRHL2):c.1003+3A>G	GRHL2	Single nucleotide variant (intron variant)	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 2823853	NM_024915.4(GRHL2):c.1560G>A (p.Glu520=)	GRHL2, LOC126860461	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2818855	NM_024915.4(GRHL2):c.936_945dup (p.Tyr316fs)	GRHL2 (Y300fs +1 more)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2807276	NM_024915.4(GRHL2):c.1542G>A (p.Met514Ile)	GRHL2, LOC126860461 (M514I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2803076	NM_024915.4(GRHL2):c.1105A>G (p.Ile369Val)	GRHL2 (I353V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2799165	NM_024915.4(GRHL2):c.1698+18T>C	GRHL2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2795025	NM_024915.4(GRHL2):c.1705G>C (p.Glu569Gln)	GRHL2 (E569Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2784524	NM_024915.4(GRHL2):c.1345+16A>C	GRHL2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2780307	NM_024915.4(GRHL2):c.1862C>T (p.Thr621Met)	GRHL2 (T621M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2780224	NM_024915.4(GRHL2):c.669A>G (p.Ala223=)	GRHL2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2778996	NM_024915.4(GRHL2):c.1011C>G (p.Tyr337Ter)	GRHL2 (Y321* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2767234	NM_024915.4(GRHL2):c.1042G>A (p.Glu348Lys)	GRHL2 (E332K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2746977	NM_024915.4(GRHL2):c.753C>T (p.Thr251=)	GRHL2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2717679	NM_024915.4(GRHL2):c.1485+8C>T	GRHL2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2712986	NM_024915.4(GRHL2):c.1722C>T (p.Pro574=)	GRHL2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2703368	NM_024915.4(GRHL2):c.20+544G>C	GRHL2	Single nucleotide variant (intron variant)	not provided	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 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 2635445	NM_024915.4(GRHL2):c.21-1G>A	GRHL2	Single nucleotide variant (splice acceptor variant)	GRHL2-related disorder	GLikely pathogenic
Select item 2606938	NM_024915.4(GRHL2):c.1523G>C (p.Ser508Thr)	GRHL2, LOC126860461 (S492T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2584500	NM_024915.4(GRHL2):c.1004-2A>C	GRHL2	Single nucleotide variant (splice acceptor variant)	GRHL2-related disorder	GLikely pathogenic
Select item 2579054	NM_024915.4(GRHL2):c.679-4G>T	GRHL2	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 2576775	NM_024915.4(GRHL2):c.81A>G (p.Arg27=)	GRHL2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2549847	NM_024915.4(GRHL2):c.1599A>C (p.Glu533Asp)	GRHL2, LOC126860461 (E533D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2509110	NM_024915.4(GRHL2):c.1321G>C (p.Ala441Pro)	GRHL2 (A441P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 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 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 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 2440600	NM_024915.4(GRHL2):c.1518-2del	GRHL2, LOC126860461	Deletion (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2426944	NC_000008.10:g.(?_98358247)_(106815766_?)dup	ANKRD46, ATP6V1C1 +40 more	Duplication	not provided	GUncertain significance
Select item 2374657	NM_024915.4(GRHL2):c.1858G>A (p.Val620Ile)	GRHL2 (V620I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2311977	NM_024915.4(GRHL2):c.1810G>A (p.Glu604Lys)	GRHL2 (E588K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 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 2241760	NM_024915.4(GRHL2):c.1111G>A (p.Val371Met)	GRHL2 (V371M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2222599	NM_024915.4(GRHL2):c.1020C>A (p.Ser340Arg)	GRHL2 (S324R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2190347	NM_024915.4(GRHL2):c.1486-10T>G	GRHL2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2177264	NM_024915.4(GRHL2):c.1848G>A (p.Glu616=)	GRHL2	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 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 2091322	NM_024915.4(GRHL2):c.1764-16C>T	GRHL2	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 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 2014783	NM_024915.4(GRHL2):c.892-18C>G	GRHL2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1990392	NM_024915.4(GRHL2):c.1613-20C>G	GRHL2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1987587	NM_024915.4(GRHL2):c.1692G>T (p.Met564Ile)	GRHL2 (M548I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1978060	NM_024915.4(GRHL2):c.1537C>T (p.Arg513Trp)	GRHL2, LOC126860461 (R513W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1961457	NM_024915.4(GRHL2):c.1610G>A (p.Arg537Gln)	GRHL2, LOC126860461 (R521Q +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1953943	NM_024915.4(GRHL2):c.830C>A (p.Ala277Asp)	GRHL2 (A261D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1951767	NM_024915.4(GRHL2):c.892-16A>G	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 1925600	NM_024915.4(GRHL2):c.1574T>G (p.Val525Gly)	GRHL2, LOC126860461 (V509G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1897335	NM_024915.4(GRHL2):c.1003+12T>C	GRHL2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1897105	NM_024915.4(GRHL2):c.285-14G>A	GRHL2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1808681	GRCh37/hg19 8q21.12-24.11(chr8:79409349-119040631)x3	AARD, ABRA +141 more	Copy number gain	not provided	GPathogenic
Select item 1723565	NM_024915.4(GRHL2):c.1784ACA[1] (p.Asn596del)	GRHL2 (N580del +1 more)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 1711167	GRCh37/hg19 8q13.2-24.3(chr8:68912432-146295771)x2	AARD, ABRA +335 more	Copy number gain	See cases	GPathogenic
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 1706511	GRCh37/hg19 8q21.2-24.3(chr8:84712253-146295771)x3	AARD, ABRA +285 more	Copy number gain	See cases	GPathogenic
Select item 1703544	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)	AARD, ABRA +665 more	Copy number gain	Polydactyly	GPathogenic
Select item 1701553	NM_024915.4(GRHL2):c.1098+6T>C	GRHL2	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 1676301	GRCh37/hg19 8q22.1-24.3(chr8:96496503-146295711)	FZD6, PCAT1 +236 more	Copy number gain	not provided	GPathogenic
Select item 1650477	NM_024915.4(GRHL2):c.1029G>A (p.Thr343=)	GRHL2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1609054	NM_024915.4(GRHL2):c.1257+23del	GRHL2	Deletion (intron variant)	not provided	GBenign
Select item 1606600	NM_024915.4(GRHL2):c.1095G>A (p.Ala365=)	GRHL2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1580002	NM_024915.4(GRHL2):c.1486-19C>G	GRHL2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1554635	NM_024915.4(GRHL2):c.678+7C>T	GRHL2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1540798	NM_024915.4(GRHL2):c.1763+18C>G	GRHL2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1527440	GRCh37/hg19 8q13.2-24.3(chr8:70382990-146295771)	DCAF4L2, DCSTAMP +333 more	Copy number gain	not specified	GPathogenic
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 1505862	NM_024915.4(GRHL2):c.1568G>C (p.Gly523Ala)	GRHL2, LOC126860461 (G507A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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