Related gene-specific medical variations for Gene (Select 57822) - ClinVar

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Links from Gene

Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3352906	NM_198174.3(GRHL3):c.1735C>T (p.Pro579Ser)	GRHL3, STPG1 (P579S)	Single nucleotide variant (missense variant +1 more)	GRHL3-related disorder	GUncertain significance
Select item 3323395	NM_001199013.2(STPG1):c.902C>T (p.Pro301Leu)	GRHL3, STPG1 (P301L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3235927	NM_198173.3(GRHL3):c.318dup (p.Thr107fs)	GRHL3 (T107fs +2 more)	Duplication (frameshift variant)	Van der Woude syndrome 2	GLikely pathogenic
Select item 3233335	NM_198173.3(GRHL3):c.1250G>A (p.Arg417Gln)	GRHL3 (R371Q +2 more)	Single nucleotide variant (missense variant)	Van der Woude syndrome 2	GUncertain significance
Select item 3171550	NM_001199013.2(STPG1):c.887G>A (p.Arg296Gln)	GRHL3, STPG1 (R296Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3171549	NM_001199013.2(STPG1):c.878A>G (p.Asn293Ser)	GRHL3, STPG1 (N201S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3171548	NM_001199013.2(STPG1):c.848A>G (p.His283Arg)	GRHL3, STPG1 (H236R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3062261	NM_198173.3(GRHL3):c.1115del (p.Leu372fs)	GRHL3 (L326fs +2 more)	Deletion (frameshift variant)	Van der Woude syndrome 2	GLikely pathogenic
Select item 3043950	NM_198174.3(GRHL3):c.1857G>A (p.Leu619=)	GRHL3, STPG1	Single nucleotide variant (synonymous variant +1 more)	GRHL3-related disorder	GLikely benign
Select item 3025145	NM_198174.3(GRHL3):c.1767G>A (p.Val589=)	GRHL3, STPG1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2855848	NM_198173.3(GRHL3):c.17+13C>G	GRHL3, GRHL3-AS1	Single nucleotide variant (5 prime UTR variant +1 more)	Van der Woude syndrome 2	GLikely benign
Select item 2432271	NM_198173.3(GRHL3):c.720C>T (p.Ala240=)	GRHL3	Single nucleotide variant (synonymous variant)	Van der Woude syndrome 2	GUncertain significance
Select item 2236959	NM_001199013.2(STPG1):c.841C>T (p.Arg281Cys)	GRHL3, STPG1 (R189C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2150740	NC_000001.11:g.24364216C>T	GRHL3, STPG1 (R576C)	Single nucleotide variant (missense variant +1 more)	Van der Woude syndrome 2	GUncertain significance
Select item 2146398	NM_198174.3(GRHL3):c.1718G>A (p.Arg573His)	GRHL3, STPG1 (R573H)	Single nucleotide variant (missense variant +1 more)	Van der Woude syndrome 2	GBenign
Select item 1280059	NM_198173.3(GRHL3):c.17+329C>A	GRHL3, GRHL3-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1273621	NM_198173.3(GRHL3):c.17+320G>A	GRHL3, GRHL3-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1264843	NM_198174.3(GRHL3):c.*33C>T	GRHL3, STPG1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1251960	NM_198174.3(GRHL3):c.1806G>A (p.Trp602Ter)	STPG1, GRHL3 (W602*)	Single nucleotide variant (nonsense +1 more)	Van der Woude syndrome 2	GUncertain significance
Select item 1221268	NM_198174.3(GRHL3):c.1695-261A>G	GRHL3, STPG1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1164479	NC_000001.11:g.24364274T>A	GRHL3, STPG1 (M595K)	Single nucleotide variant (missense variant +1 more)	Van der Woude syndrome 2 +1 more	GBenign
Select item 218865	NM_198174.3(GRHL3):c.1696G>A (p.Glu566Lys)	STPG1, GRHL3 (E566K)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GBenign

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Links from Gene

Items: 22