STPG1[gene] - ClinVar

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Items: 44

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2664871	GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	A2ML1-AS2, A3GALT2 +2151 more	Copy number gain	Trisomy 12p	GPathogenic
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 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 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 1221268	NM_198174.3(GRHL3):c.1695-261A>G	GRHL3, STPG1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 218865	NM_198174.3(GRHL3):c.1696G>A (p.Glu566Lys)	GRHL3, STPG1 (E566K)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GBenign
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 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 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 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 1164479	NC_000001.11:g.24364274T>A	STPG1, GRHL3 (M595K)	Single nucleotide variant (missense variant +1 more)	Van der Woude syndrome 2 +1 more	GBenign
Select item 1251960	NM_198174.3(GRHL3):c.1806G>A (p.Trp602Ter)	GRHL3, STPG1 (W602*)	Single nucleotide variant (nonsense +1 more)	Van der Woude syndrome 2	GUncertain significance
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 1264843	NM_198174.3(GRHL3):c.*33C>T	GRHL3, STPG1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1272581	NC_000001.11:g.24364647T>C	GRHL3, STPG1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2470544	NM_001199013.2(STPG1):c.701G>A (p.Ser234Asn)	STPG1 (S187N +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3323396	NM_001199013.2(STPG1):c.688T>C (p.Tyr230His)	STPG1 (Y183H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171547	NM_001199013.2(STPG1):c.677C>T (p.Pro226Leu)	STPG1 (P179L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461547	NM_001199013.2(STPG1):c.670A>G (p.Thr224Ala)	STPG1 (T132A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171546	NM_001199013.2(STPG1):c.545C>T (p.Ala182Val)	STPG1 (A182V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247398	NM_001199013.2(STPG1):c.509C>T (p.Ala170Val)	STPG1 (A170V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323394	NM_001199013.2(STPG1):c.398T>A (p.Met133Lys)	STPG1 (M133K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470917	NM_001199013.2(STPG1):c.386C>T (p.Ser129Leu)	STPG1 (S82L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302613	NM_001199013.2(STPG1):c.325C>T (p.Pro109Ser)	STPG1 (P62S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171545	NM_001199013.2(STPG1):c.295G>A (p.Ala99Thr)	STPG1 (A7T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 149963	GRCh38/hg38 1p36.11-34.2(chr1:24381206-41401517)x3	LINC02811, LITATS1 +1147 more	Copy number gain	See cases	GPathogenic
Select item 3323397	NM_001199013.2(STPG1):c.287C>T (p.Ser96Leu)	STPG1 (S4L +2 more)	Single nucleotide variant (missense variant)	not specified	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)	not specified	GUncertain significance
Select item 3323393	NM_001199013.2(STPG1):c.254C>T (p.Ser85Leu)	STPG1 (S38L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	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)	not specified	GUncertain significance
Select item 3171544	NM_001199013.2(STPG1):c.20A>G (p.Lys7Arg)	STPG1 (K7R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2685377	GRCh37/hg19 1p36.11(chr1:24680971-25029622)x1	GRHL3, NCMAP +4 more	Copy number loss	not provided	GUncertain significance
Select item 2422561	NC_000001.10:g.(?_19199339)_(24690861_?)dup	AKR7A2, AKR7A3 +77 more	Duplication	Deficiency of hydroxymethylglutaryl-CoA lyase	GUncertain significance
Select item 1809397	GRCh37/hg19 1p36.11(chr1:24111388-24686443)x3	CNR2, FUCA1 +11 more	Copy number gain	not provided	GUncertain significance
Select item 1808979	GRCh37/hg19 1p36.11(chr1:24363507-24875537)x3	GRHL3, IFNLR1 +5 more	Copy number gain	not provided	GUncertain significance
Select item 1706483	GRCh37/hg19 1p36.11(chr1:24531639-24749706)x1	GRHL3, NIPAL3 +1 more	Copy number loss	See cases	GPathogenic
Select item 929347	GRCh37/hg19 1p36.11(chr1:24394811-25148686)x3	CLIC4, GRHL3 +8 more	Copy number gain	See cases	GUncertain significance
Select item 635767	GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	AGL, AGMAT +783 more	Copy number gain	Intellectual disability, mild +1 more	GUncertain significance
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 221359	chr1:17555508-24706269 complex variant	ACTL8, AKR7A2 +88 more	Complex	Breast ductal adenocarcinoma	GUncertain significance
Select item 221334	Single allele	IGSF21, IL22RA1 +314 more	Complex	Breast ductal adenocarcinoma	GUncertain significance

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Items: 44