NCSTN[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155448	GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3	LOC129931453, LOC129931454 +1585 more	Copy number gain	See cases	GPathogenic
Select item 58109	GRCh38/hg38 1q23.1-25.1(chr1:157747246-176021247)x3	ADAMTS4, ADCY10 +775 more	Copy number gain	See cases	GPathogenic
Select item 57465	GRCh38/hg38 1q23.2-24.1(chr1:159479887-166895086)x1	ADAMTS4, ALDH9A1 +371 more	Copy number loss	See cases	GPathogenic
Select item 3053459	NM_015331.3(NCSTN):c.-6G>C	NCSTN	Single nucleotide variant (5 prime UTR variant)	NCSTN-related disorder	GLikely benign
Select item 504025	NM_015331.3(NCSTN):c.17del (p.Gly6fs)	NCSTN (G6fs)	Deletion (5 prime UTR variant +1 more)	not provided	GPathogenic
Select item 2892412	NM_015331.3(NCSTN):c.14G>T (p.Gly5Val)	NCSTN (G5V)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1395248	NM_015331.3(NCSTN):c.14G>A (p.Gly5Glu)	NCSTN (G5E)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2151610	NM_015331.3(NCSTN):c.15G>T (p.Gly5=)	NCSTN	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 2731432	NM_015331.3(NCSTN):c.21C>T (p.Gly7=)	NCSTN	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1974018	NM_015331.3(NCSTN):c.21C>G (p.Gly7=)	NCSTN	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1434619	NM_015331.3(NCSTN):c.23C>T (p.Ser8Phe)	NCSTN (S8F)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2748337	NM_015331.3(NCSTN):c.26G>C (p.Gly9Ala)	NCSTN (G9A)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2081111	NM_015331.3(NCSTN):c.26G>A (p.Gly9Glu)	NCSTN (G9E)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2978481	NM_015331.3(NCSTN):c.40A>G (p.Ser14Gly)	NCSTN (S14G)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1658006	NM_015331.3(NCSTN):c.45G>C (p.Arg15=)	NCSTN	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1912844	NM_015331.3(NCSTN):c.48T>G (p.Gly16=)	NCSTN	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1443158	NM_015331.3(NCSTN):c.49C>G (p.Leu17Val)	NCSTN (L17V)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2912476	NM_015331.3(NCSTN):c.52C>G (p.Leu18Val)	NCSTN (L18V)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1549200	NM_015331.3(NCSTN):c.54T>C (p.Leu18=)	NCSTN	Single nucleotide variant (5 prime UTR variant +1 more)	NCSTN-related disorder +1 more	GBenign/Likely benign
Select item 2898660	NM_015331.3(NCSTN):c.55C>T (p.Arg19Cys)	NCSTN (R19C)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2164046	NM_015331.3(NCSTN):c.56G>A (p.Arg19His)	NCSTN (R19H)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1566588	NM_015331.3(NCSTN):c.61C>T (p.Leu21=)	NCSTN	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2013837	NM_015331.3(NCSTN):c.62T>C (p.Leu21Pro)	NCSTN (L21P)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1425278	NM_015331.3(NCSTN):c.73G>A (p.Val25Ile)	NCSTN (V25I)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1602908	NM_015331.3(NCSTN):c.75C>T (p.Val25=)	NCSTN	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 3029027	NM_015331.3(NCSTN):c.79C>T (p.Leu27=)	NCSTN	Single nucleotide variant (5 prime UTR variant +1 more)	NCSTN-related disorder	GLikely benign
Select item 2087344	NM_015331.3(NCSTN):c.82G>A (p.Ala28Thr)	NCSTN (A28T)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2139058	NM_015331.3(NCSTN):c.85+6_85+9dup	NCSTN	Duplication (intron variant)	not provided	GLikely benign
Select item 1594836	NM_015331.3(NCSTN):c.85+7C>T	NCSTN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2849125	NM_015331.3(NCSTN):c.85+14G>C	NCSTN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2032581	NM_015331.3(NCSTN):c.85+17del	NCSTN	Deletion (intron variant)	not provided	GLikely benign
Select item 1647668	NM_015331.3(NCSTN):c.85+16C>A	NCSTN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1997544	NM_015331.3(NCSTN):c.85+18G>A	NCSTN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2777436	NM_015331.3(NCSTN):c.86-20A>G	NCSTN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1914644	NM_015331.3(NCSTN):c.86-16T>C	NCSTN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1662973	NM_015331.3(NCSTN):c.86-15T>C	NCSTN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2956456	NM_015331.3(NCSTN):c.86-7C>T	NCSTN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2107660	NM_015331.3(NCSTN):c.86-6G>A	NCSTN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1306070	NM_015331.3(NCSTN):c.86-6G>T	NCSTN	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1919182	NM_015331.3(NCSTN):c.86G>T (p.Gly29Val)	NCSTN (G29V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1366544	NM_015331.3(NCSTN):c.86G>A (p.Gly29Asp)	NCSTN (S9N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1627984	NM_015331.3(NCSTN):c.87T>C (p.Gly29=)	NCSTN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1388677	NM_015331.3(NCSTN):c.95G>T (p.Arg32Met)	NCSTN (R12M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2998976	NM_015331.3(NCSTN):c.96G>A (p.Arg32=)	NCSTN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1179000	NM_015331.3(NCSTN):c.97G>A (p.Gly33Arg)	NCSTN (G33R +1 more)	Single nucleotide variant (missense variant)	Acne inversa, familial, 1	GPathogenic
Select item 1980186	NM_015331.3(NCSTN):c.98G>T (p.Gly33Val)	NCSTN (G33V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1353522	NM_015331.3(NCSTN):c.102C>G (p.Asn34Lys)	NCSTN (N14K +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2151290	NM_015331.3(NCSTN):c.108G>A (p.Val36=)	NCSTN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1465034	NM_015331.3(NCSTN):c.112A>G (p.Arg38Gly)	NCSTN (R18G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2063858	NM_015331.3(NCSTN):c.115_126del (p.Lys39_Ile42del)	NCSTN	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 1408951	NM_015331.3(NCSTN):c.124A>G (p.Ile42Val)	NCSTN (I22V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2895015	NM_015331.3(NCSTN):c.128C>T (p.Pro43Leu)	NCSTN (P23L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2028921	NM_015331.3(NCSTN):c.129C>G (p.Pro43=)	NCSTN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1917571	NM_015331.3(NCSTN):c.142G>T (p.Ala48Ser)	NCSTN (A48S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1478474	NM_015331.3(NCSTN):c.145C>T (p.Pro49Ser)	NCSTN (P29S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1576325	NM_015331.3(NCSTN):c.147C>T (p.Pro49=)	NCSTN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2184962	NM_015331.3(NCSTN):c.156C>T (p.Arg52=)	NCSTN	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1103004	NM_015331.3(NCSTN):c.159G>A (p.Leu53=)	NCSTN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1636908	NM_015331.3(NCSTN):c.165C>T (p.Asn55=)	NCSTN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2084904	NM_015331.3(NCSTN):c.166G>A (p.Ala56Thr)	NCSTN (A36T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1524308	NM_015331.3(NCSTN):c.173A>G (p.His58Arg)	NCSTN (H38R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2855334	NM_015331.3(NCSTN):c.177G>C (p.Gln59His)	NCSTN (Q39H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1669260	NM_015331.3(NCSTN):c.190+12T>C	NCSTN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2965714	NM_015331.3(NCSTN):c.190+20T>C	NCSTN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1556776	NM_015331.3(NCSTN):c.191-19A>G	NCSTN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1670315	NM_015331.3(NCSTN):c.191-17T>A	NCSTN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2105255	NM_015331.3(NCSTN):c.191-7C>G	NCSTN	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2012322	NM_015331.3(NCSTN):c.191-3C>T	NCSTN	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1953995	NM_015331.3(NCSTN):c.200G>C (p.Ser67Thr)	NCSTN (S67T +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1589533	NM_015331.3(NCSTN):c.200G>T (p.Ser67Ile)	NCSTN (S47I +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 788844	NM_015331.3(NCSTN):c.201T>C (p.Ser67=)	NCSTN	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1164574	NM_015331.3(NCSTN):c.210A>G (p.Thr70=)	NCSTN	Single nucleotide variant (synonymous variant)	NCSTN-related disorder +1 more	GBenign/Likely benign
Select item 806257	NM_015331.3(NCSTN):c.214del (p.Val72fs)	NCSTN (V52fs +1 more)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 2700397	NM_015331.3(NCSTN):c.214G>T (p.Val72Phe)	NCSTN (V72F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2123449	NM_015331.3(NCSTN):c.214G>A (p.Val72Ile)	NCSTN (V52I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2067989	NM_015331.3(NCSTN):c.222C>G (p.His74Gln)	NCSTN (H54Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1642386	NM_015331.3(NCSTN):c.222C>T (p.His74=)	NCSTN	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1364198	NM_015331.3(NCSTN):c.223G>A (p.Val75Ile)	NCSTN (V75I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1597051	NM_015331.3(NCSTN):c.228A>G (p.Val76=)	NCSTN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2909472	NM_015331.3(NCSTN):c.230A>G (p.Glu77Gly)	NCSTN (E57G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 782394	NM_015331.3(NCSTN):c.231G>C (p.Glu77Asp)	NCSTN (E57D +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 710191	NM_015331.3(NCSTN):c.237G>A (p.Glu79=)	NCSTN	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1520468	NM_015331.3(NCSTN):c.240G>T (p.Glu80Asp)	NCSTN (E80D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2785784	NM_015331.3(NCSTN):c.248A>G (p.Gln83Arg)	NCSTN (Q83R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2863769	NM_015331.3(NCSTN):c.259A>G (p.Thr87Ala)	NCSTN (T87A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1930598	NM_015331.3(NCSTN):c.273C>A (p.Asn91Lys)	NCSTN (N71K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1475528	NM_015331.3(NCSTN):c.283A>G (p.Met95Val)	NCSTN (M75V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3008681	NM_015331.3(NCSTN):c.285G>A (p.Met95Ile)	NCSTN (M75I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2973456	NM_015331.3(NCSTN):c.289C>T (p.Leu97=)	NCSTN	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2840989	NM_015331.3(NCSTN):c.291G>T (p.Leu97=)	NCSTN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3012153	NM_015331.3(NCSTN):c.295G>A (p.Glu99Lys)	NCSTN (E99K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1364651	NM_015331.3(NCSTN):c.313A>T (p.Arg105Trp)	NCSTN (R85W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1479261	NM_015331.3(NCSTN):c.314+2_314+4dup	NCSTN	Duplication (splice donor variant)	not provided	GUncertain significance
Select item 1415302	NM_015331.3(NCSTN):c.314+3A>G	NCSTN	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2029960	NM_015331.3(NCSTN):c.315-14C>T	NCSTN	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2065188	NM_015331.3(NCSTN):c.316G>A (p.Asp106Asn)	NCSTN (D106N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2909473	NM_015331.3(NCSTN):c.323T>C (p.Met108Thr)	NCSTN (M108T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2827893	NM_015331.3(NCSTN):c.339G>A (p.Gly113=)	NCSTN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 30454	NM_015331.3(NCSTN):c.349C>T (p.Arg117Ter)	NCSTN (R117* +1 more)	Single nucleotide variant (nonsense)	Acne inversa, familial, 1	GPathogenic
Select item 1422196	NM_015331.3(NCSTN):c.350G>A (p.Arg117Gln)	NCSTN (R117Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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