Related gene-specific medical variations for Gene (Select 90529) - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3043950	NM_001199013.2(STPG1):c.738-3306C>T	STPG1, GRHL3	Single nucleotide variant (synonymous variant +1 more)	GRHL3-related condition	GLikely benign
Select item 3025145	NM_001199013.2(STPG1):c.738-3216C>T	GRHL3, STPG1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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	NM_001199013.2(STPG1):c.738-3175G>A	GRHL3, STPG1 (R576C)	Single nucleotide variant (missense variant +1 more)	Van der Woude syndrome 2	GUncertain significance
Select item 2146398	NM_001199013.2(STPG1):c.738-3167C>T	GRHL3, STPG1 (R573H)	Single nucleotide variant (missense variant +1 more)	GRHL3-related condition +1 more	GBenign/Likely benign
Select item 1264843	NM_001199013.2(STPG1):c.738-3363G>A	GRHL3, STPG1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1251960	NM_001199013.2(STPG1):c.738-3255C>T	GRHL3, STPG1 (W602*)	Single nucleotide variant (nonsense +1 more)	Van der Woude syndrome 2	GUncertain significance
Select item 1221268	NM_001199013.2(STPG1):c.738-2883T>C	GRHL3, STPG1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1164479	NM_001199013.2(STPG1):c.738-3233A>T	GRHL3, STPG1 (M595K)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign
Select item 218865	NM_001199013.2(STPG1):c.738-3145C>T	GRHL3, STPG1 (E566K)	Single nucleotide variant (missense variant +1 more)	GRHL3-related condition +2 more	GBenign