"Ambry Genetics"[submitter] AND "STPG1"[gene] - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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
Select item 2470544	NM_001199013.2(STPG1):c.701G>A (p.Ser234Asn)	STPG1 (S187N +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2461547	NM_001199013.2(STPG1):c.670A>G (p.Thr224Ala)	STPG1 (T132A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2247398	NM_001199013.2(STPG1):c.509C>T (p.Ala170Val)	STPG1 (A170V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2470917	NM_001199013.2(STPG1):c.386C>T (p.Ser129Leu)	STPG1 (S82L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2302613	NM_001199013.2(STPG1):c.325C>T (p.Pro109Ser)	STPG1 (P62S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2461546	NM_001199013.2(STPG1):c.279G>A (p.Met93Ile)	STPG1 (M1I +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2524055	NM_001199013.2(STPG1):c.64C>A (p.Gln22Lys)	STPG1 (Q22K +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance