"Ambry Genetics"[submitter] AND "GRHL3"[gene] - ClinVar

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Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1172585	NM_198173.3(GRHL3):c.32G>A (p.Arg11Gln)	GRHL3 (R11Q +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2259931	NM_198173.3(GRHL3):c.100A>G (p.Thr34Ala)	GRHL3 (T39A +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2384000	NM_198173.3(GRHL3):c.268T>A (p.Tyr90Asn)	GRHL3 (Y44N +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2477120	NM_198173.3(GRHL3):c.356G>C (p.Gly119Ala)	GRHL3 (G73A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2400483	NM_198173.3(GRHL3):c.571C>T (p.Arg191Cys)	GRHL3 (R145C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2241228	NM_198173.3(GRHL3):c.572G>A (p.Arg191His)	GRHL3 (R191H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2367535	NM_198173.3(GRHL3):c.646C>T (p.Pro216Ser)	GRHL3 (P216S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2616775	NM_198173.3(GRHL3):c.763A>G (p.Lys255Glu)	GRHL3 (K255E +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2057464	NM_198173.3(GRHL3):c.790C>T (p.Arg264Trp)	GRHL3 (R218W +2 more)	Single nucleotide variant (missense variant)	Van der Woude syndrome 2 +1 more	GUncertain significance
Select item 2455567	NM_198173.3(GRHL3):c.928G>A (p.Ala310Thr)	GRHL3 (A264T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2522501	NM_198173.3(GRHL3):c.1034A>C (p.Asn345Thr)	GRHL3 (N350T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2238933	NM_198173.3(GRHL3):c.1057G>A (p.Gly353Ser)	GRHL3 (G307S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 790225	NM_198173.3(GRHL3):c.1159C>T (p.Arg387Cys)	GRHL3 (R341C +2 more)	Single nucleotide variant (missense variant)	GRHL3-related condition +2 more	GConflicting classifications of pathogenicity
Select item 2531583	NM_198173.3(GRHL3):c.1267C>T (p.Pro423Ser)	GRHL3 (P423S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2375034	NM_198173.3(GRHL3):c.1328C>T (p.Thr443Met)	GRHL3 (T443M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2614030	NM_198173.3(GRHL3):c.1363C>T (p.Pro455Ser)	GRHL3 (P455S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2455364	NM_198173.3(GRHL3):c.1468C>T (p.Arg490Cys)	GRHL3 (R444C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1166315	NM_198173.3(GRHL3):c.1469G>A (p.Arg490His)	GRHL3 (R444H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 2544115	NM_198173.3(GRHL3):c.1498G>A (p.Glu500Lys)	GRHL3 (E505K +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2384364	NM_198173.3(GRHL3):c.1501C>T (p.Pro501Ser)	GRHL3 (P455S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 208652	NM_198173.3(GRHL3):c.1795C>G (p.Leu599Val)	GRHL3 (L599V +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely pathogenic
Select item 2236959	NM_001199013.2(STPG1):c.841C>T (p.Arg281Cys)	GRHL3, STPG1 (R189C +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance

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Items: 22