ClinVar for MedGen (Select 324846) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1260503	NM_024915.4(GRHL2):c.*41G>A	GRHL2	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant nonsyndromic hearing loss 28 +3 more	GBenign
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 261793	NM_024915.4(GRHL2):c.1764-19C>T	GRHL2	Single nucleotide variant (intron variant)	not provided +4 more	GBenign
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 92126	NM_024915.4(GRHL2):c.1258-1G>A	GRHL2	Single nucleotide variant (splice acceptor variant)	Autosomal dominant nonsyndromic hearing loss 28	GPathogenic
Select item 46216	NM_024915.4(GRHL2):c.1723G>A (p.Val575Met)	GRHL2 (V575M +1 more)	Single nucleotide variant (missense variant)	not specified +5 more	GUncertain significance
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 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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