Related gene-specific medical variations for Gene (Select 79977) - ClinVar

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Links from Gene

Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3359671	NM_024915.4(GRHL2):c.1732_1735dup (p.Ala579fs)	GRHL2 (A563fs +1 more)	Duplication (frameshift variant)	not provided	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 2997758	NM_024915.4(GRHL2):c.1609C>A (p.Arg537=)	GRHL2, LOC126860461	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2823853	NM_024915.4(GRHL2):c.1560G>A (p.Glu520=)	GRHL2, LOC126860461	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2807276	NM_024915.4(GRHL2):c.1542G>A (p.Met514Ile)	LOC126860461, GRHL2 (M514I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 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 2440600	NM_024915.4(GRHL2):c.1518-2del	GRHL2, LOC126860461	Deletion (splice acceptor variant)	not provided	GLikely pathogenic
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 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 1505862	NM_024915.4(GRHL2):c.1568G>C (p.Gly523Ala)	GRHL2, LOC126860461 (G507A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 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 1244131	NM_024915.4(GRHL2):c.1518-230G>T	GRHL2, LOC126860461	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 1197452	NM_024915.4(GRHL2):c.1612+231C>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 1187735	NM_024915.4(GRHL2):c.-207C>T	GRHL2, GRHL2-DT	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 1185735	NM_024915.4(GRHL2):c.1518-160C>T	GRHL2, LOC126860461	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 666837	NM_024915.4(GRHL2):c.1546C>T (p.Arg516Trp)	GRHL2, LOC126860461 (R516W +1 more)	Single nucleotide variant (missense variant)	not specified	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 2195	NM_024915.4(GRHL2):c.1609dup (p.Arg537fs)	GRHL2, LOC126860461 (R521fs +1 more)	Duplication (frameshift variant)	Autosomal dominant nonsyndromic hearing loss 28	GPathogenic

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Links from Gene

Items: 25