ClinVar for Gene (Select 23385) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3377655	NM_015331.3(NCSTN):c.278dup (p.Tyr94fs)	NCSTN (Y74fs +1 more)	Duplication (frameshift variant)	Acne inversa, familial, 1	GLikely pathogenic
Select item 3353260	NM_015331.3(NCSTN):c.1102-3C>A	NCSTN	Single nucleotide variant (intron variant)	NCSTN-related disorder	GLikely benign
Select item 3342377	NM_015331.3(NCSTN):c.1294C>T (p.Arg432Ter)	NCSTN (R294* +2 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 3340541	NM_015331.3(NCSTN):c.344_351del (p.Thr115fs)	NCSTN (T115fs +1 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 3247993	NC_000001.10:g.(?_160323012)_(160326377_?)del	NCSTN	Deletion	not provided	GLikely pathogenic
Select item 3185512	NM_015331.3(NCSTN):c.724A>G (p.Ile242Val)	NCSTN (I242V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3185489	NM_015331.3(NCSTN):c.2011A>T (p.Ile671Phe)	NCSTN (I651F +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3185453	NM_015331.3(NCSTN):c.1617G>T (p.Arg539Ser)	NCSTN (R401S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 3044883	NM_015331.3(NCSTN):c.1102-5C>A	NCSTN	Single nucleotide variant (intron variant)	NCSTN-related disorder	GLikely benign
Select item 3044412	NM_015331.3(NCSTN):c.1974C>A (p.Ala658=)	NCSTN	Single nucleotide variant (synonymous variant +1 more)	NCSTN-related disorder	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 3022554	NM_015331.3(NCSTN):c.1800T>C (p.Tyr600=)	NCSTN	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3021416	NM_015331.3(NCSTN):c.497C>T (p.Ser166Leu)	NCSTN (S146L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3017976	NM_015331.3(NCSTN):c.1410G>T (p.Trp470Cys)	NCSTN (W450C +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3016009	NM_015331.3(NCSTN):c.1803G>A (p.Glu601=)	NCSTN	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3015346	NM_015331.3(NCSTN):c.1201T>C (p.Leu401=)	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 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 3006991	NM_015331.3(NCSTN):c.1663A>G (p.Ile555Val)	NCSTN (I535V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3006684	NM_015331.3(NCSTN):c.1191C>T (p.Leu397=)	NCSTN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3006419	NM_015331.3(NCSTN):c.2008-7C>A	NCSTN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3002483	NM_015331.3(NCSTN):c.1101+17C>A	NCSTN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3002254	NM_015331.3(NCSTN):c.778C>A (p.Leu260Ile)	NCSTN (L260I +1 more)	Single nucleotide variant (missense variant +1 more)	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 2993772	NM_015331.3(NCSTN):c.1102-17C>T	NCSTN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2993640	NM_015331.3(NCSTN):c.1428C>G (p.Asp476Glu)	NCSTN (D476E +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2993146	NM_015331.3(NCSTN):c.436+9C>T	NCSTN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2991976	NM_015331.3(NCSTN):c.1156A>G (p.Lys386Glu)	NCSTN (K366E +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2988897	NM_015331.3(NCSTN):c.1206G>A (p.Glu402=)	NCSTN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2988447	NM_015331.3(NCSTN):c.1251T>C (p.Asn417=)	NCSTN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2985080	NM_015331.3(NCSTN):c.1434C>T (p.Asn478=)	NCSTN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2984657	NM_015331.3(NCSTN):c.1877G>A (p.Arg626Gln)	NCSTN (R488Q +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2984283	NM_015331.3(NCSTN):c.733+14G>T	NCSTN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2982878	NM_015331.3(NCSTN):c.1576C>G (p.Leu526Val)	NCSTN (L526V +2 more)	Single nucleotide variant (missense variant)	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 2977502	NM_015331.3(NCSTN):c.1211G>A (p.Ser404Asn)	NCSTN (S404N +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2976477	NM_015331.3(NCSTN):c.1352+10A>G	NCSTN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2975377	NM_015331.3(NCSTN):c.1506A>G (p.Ala502=)	NCSTN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2974388	NM_015331.3(NCSTN):c.2008-18C>T	NCSTN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2973456	NM_015331.3(NCSTN):c.289C>T (p.Leu97=)	NCSTN	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2970917	NM_015331.3(NCSTN):c.1990G>A (p.Ala664Thr)	NCSTN (A526T +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2968431	NM_015331.3(NCSTN):c.892G>T (p.Ala298Ser)	NCSTN (A278S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2965782	NM_015331.3(NCSTN):c.997-9A>G	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 2961134	NM_015331.3(NCSTN):c.1923C>T (p.Ser641=)	NCSTN	Single nucleotide variant (synonymous variant +1 more)	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 2913336	NM_015331.3(NCSTN):c.574A>G (p.Ile192Val)	NCSTN (I192V +1 more)	Single nucleotide variant (missense variant)	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 2911916	NM_015331.3(NCSTN):c.461C>T (p.Pro154Leu)	NCSTN (P134L +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 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 2906063	NM_015331.3(NCSTN):c.787A>G (p.Ile263Val)	NCSTN (I243V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2904549	NM_015331.3(NCSTN):c.1375A>G (p.Thr459Ala)	NCSTN (T459A +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2900534	NM_015331.3(NCSTN):c.2040C>T (p.Leu680=)	NCSTN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2899197	NM_015331.3(NCSTN):c.1563G>T (p.Leu521=)	NCSTN	Single nucleotide variant (synonymous variant)	not provided	GLikely 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 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 2893164	NM_015331.3(NCSTN):c.455A>G (p.Tyr152Cys)	NCSTN (Y132C +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
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 2891916	NM_015331.3(NCSTN):c.1487G>A (p.Arg496His)	NCSTN (R476H +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2890011	NM_015331.3(NCSTN):c.1916A>G (p.Gln639Arg)	NCSTN (Q501R +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2887408	NM_015331.3(NCSTN):c.1970G>A (p.Arg657His)	NCSTN (R657H +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2884508	NM_015331.3(NCSTN):c.467T>G (p.Phe156Cys)	NCSTN (F136C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2882971	NM_015331.3(NCSTN):c.861T>C (p.Phe287=)	NCSTN	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2875818	NM_015331.3(NCSTN):c.960C>G (p.Thr320=)	NCSTN	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2874914	NM_015331.3(NCSTN):c.734-19T>C	NCSTN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2872004	NM_015331.3(NCSTN):c.1248A>G (p.Pro416=)	NCSTN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2867191	NM_015331.3(NCSTN):c.1613T>G (p.Leu538Arg)	NCSTN (L518R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2866747	NM_015331.3(NCSTN):c.1731A>G (p.Thr577=)	NCSTN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2866449	NM_015331.3(NCSTN):c.2008T>C (p.Leu670=)	NCSTN	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2864941	NM_015331.3(NCSTN):c.1121T>C (p.Leu374Ser)	NCSTN (L236S +2 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 2862153	NM_015331.3(NCSTN):c.997-5C>T	NCSTN	Single nucleotide variant (intron 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 2849125	NM_015331.3(NCSTN):c.85+14G>C	NCSTN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2847820	NM_015331.3(NCSTN):c.898G>T (p.Ala300Ser)	NCSTN (A280S +1 more)	Single nucleotide variant (missense variant +1 more)	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 2840783	NM_015331.3(NCSTN):c.1479G>T (p.Val493=)	NCSTN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2836928	NM_015331.3(NCSTN):c.2063A>G (p.Tyr688Cys)	NCSTN (Y617C +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2832791	NM_015331.3(NCSTN):c.1102-16T>C	NCSTN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2829971	NM_015331.3(NCSTN):c.1291C>A (p.Leu431Ile)	NCSTN (L411I +2 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 2825001	NM_015331.3(NCSTN):c.1450G>A (p.Ala484Thr)	NCSTN (A346T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2813690	NM_015331.3(NCSTN):c.1640-3C>A	NCSTN	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2808957	NM_015331.3(NCSTN):c.1528A>G (p.Thr510Ala)	NCSTN (T372A +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2805840	NM_015331.3(NCSTN):c.2007+19A>G	NCSTN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2800869	NM_015331.3(NCSTN):c.1036G>A (p.Asp346Asn)	NCSTN (D346N +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2796789	NM_015331.3(NCSTN):c.2008-13C>G	NCSTN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2796003	NM_015331.3(NCSTN):c.1318G>C (p.Val440Leu)	NCSTN (V302L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2795968	NM_015331.3(NCSTN):c.583-17T>C	NCSTN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2795253	NM_015331.3(NCSTN):c.1885A>C (p.Arg629=)	NCSTN	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2794829	NM_015331.3(NCSTN):c.1405G>A (p.Glu469Lys)	NCSTN (E449K +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2788703	NM_015331.3(NCSTN):c.1283A>G (p.Gln428Arg)	NCSTN (Q290R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2787897	NM_015331.3(NCSTN):c.1108T>A (p.Leu370Ile)	NCSTN (L370I +2 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 2784580	NM_015331.3(NCSTN):c.1466A>T (p.Asp489Val)	NCSTN (D351V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2783969	NM_015331.3(NCSTN):c.1640-19C>A	NCSTN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2783396	NM_015331.3(NCSTN):c.2079A>G (p.Lys693=)	NCSTN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2778978	NM_015331.3(NCSTN):c.1715C>T (p.Ala572Val)	NCSTN (A572V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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