PORCN[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1768921	NM_203475.3(PORCN):c.9C>T (p.Thr3=)	PORCN	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2104533	NM_203475.3(PORCN):c.21G>A (p.Gln7=)	PORCN	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 588910	NM_203475.3(PORCN):c.24A>G (p.Glu8=)	PORCN	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 998041	NM_203475.3(PORCN):c.49_80del (p.Cys17fs)	PORCN (C17fs)	Deletion (5 prime UTR variant +1 more)	Focal dermal hypoplasia	GPathogenic
Select item 521401	NM_203475.3(PORCN):c.49T>C (p.Cys17Arg)	PORCN (C17R)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2730574	NM_203475.3(PORCN):c.60T>A (p.Pro20=)	PORCN	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2020086	NM_203475.3(PORCN):c.66C>G (p.Ala22=)	PORCN	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2824191	NM_203475.3(PORCN):c.78T>C (p.Leu26=)	PORCN	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 694604	NM_203475.3(PORCN):c.82C>T (p.Gln28Ter)	PORCN (Q28*)	Single nucleotide variant (5 prime UTR variant +1 more)	Focal dermal hypoplasia	GPathogenic
Select item 2531232	NM_203475.3(PORCN):c.112G>A (p.Ala38Thr)	PORCN (A38T)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 1176929	NM_203475.3(PORCN):c.119G>T (p.Arg40Leu)	PORCN (R40L)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1986496	NM_203475.3(PORCN):c.136G>A (p.Gly46Arg)	PORCN (G46R)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 810584	NM_203475.3(PORCN):c.136+7G>A	PORCN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1189911	NM_203475.3(PORCN):c.137-247C>T	PORCN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1275079	NM_203475.3(PORCN):c.137-90T>C	PORCN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2502299	NM_203475.3(PORCN):c.137-1G>C	PORCN	Single nucleotide variant (intron variant +1 more)	Focal dermal hypoplasia	GPathogenic
Select item 1663393	NM_203475.3(PORCN):c.169G>A (p.Val57Met)	PORCN (V57M)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 10701	NM_203475.3(PORCN):c.178G>A (p.Gly60Arg)	PORCN (G60R)	Single nucleotide variant (missense variant +1 more)	not provided	GPathogenic
Select item 1430235	NM_203475.3(PORCN):c.193T>A (p.Tyr65Asn)	PORCN (Y65N)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2857614	NM_203475.3(PORCN):c.201C>A (p.Phe67Leu)	PORCN (F67L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 10703	NM_203475.3(PORCN):c.222G>A (p.Trp74Ter)	PORCN (W74* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 3056713	NM_203475.3(PORCN):c.231G>A (p.Leu77=)	PORCN	Single nucleotide variant (synonymous variant)	PORCN-related disorder	GLikely benign
Select item 96664	NM_203475.3(PORCN):c.250del (p.Leu84fs)	PORCN (L84fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 242872	NM_203475.3(PORCN):c.268C>T (p.Arg90Ter)	PORCN (R90* +1 more)	Single nucleotide variant (nonsense)	Focal dermal hypoplasia +1 more	GPathogenic
Select item 3351952	NM_203475.3(PORCN):c.269G>A (p.Arg90Gln)	PORCN (R19Q +1 more)	Single nucleotide variant (missense variant)	PORCN-related disorder	GUncertain significance
Select item 813937	NM_203475.3(PORCN):c.283C>T (p.Arg95Ter)	PORCN (R95* +1 more)	Single nucleotide variant (nonsense)	Focal dermal hypoplasia	GPathogenic
Select item 2795186	NM_203475.3(PORCN):c.284G>A (p.Arg95Gln)	PORCN (R24Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 195444	NM_203475.3(PORCN):c.288C>T (p.Gly96=)	PORCN	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 729547	NM_203475.3(PORCN):c.301G>A (p.Val101Ile)	PORCN (V30I +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 148165	GRCh38/hg38 Xp11.23(chrX:48511468-48512362)x2	PORCN	Copy number gain	See cases	GBenign
Select item 148150	GRCh38/hg38 Xp11.23(chrX:48511468-48512678)x3	PORCN	Copy number gain	See cases	GBenign
Select item 1729500	NM_203475.3(PORCN):c.325A>G (p.Met109Val)	PORCN (M109V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GBenign/Likely benign
Select item 2580918	NM_203475.3(PORCN):c.329+1G>C	PORCN	Single nucleotide variant (splice donor variant)	Focal dermal hypoplasia	GUncertain significance
Select item 828164	NM_203475.3(PORCN):c.329+1G>A	PORCN	Single nucleotide variant (splice donor variant)	Focal dermal hypoplasia	GLikely pathogenic
Select item 2572934	NM_203475.3(PORCN):c.329+3A>G	PORCN	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1261507	NM_203475.3(PORCN):c.329+94G>A	PORCN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2115190	NM_203475.3(PORCN):c.330-1G>T	PORCN	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 1804029	NM_203475.3(PORCN):c.341T>G (p.Met114Arg)	PORCN (M114R +1 more)	Single nucleotide variant (missense variant)	Focal dermal hypoplasia	GLikely pathogenic
Select item 10702	NM_203475.3(PORCN):c.370C>T (p.Arg124Ter)	PORCN (R124* +1 more)	Single nucleotide variant (nonsense)	Focal dermal hypoplasia +1 more	GPathogenic
Select item 1514703	NM_203475.3(PORCN):c.371G>C (p.Arg124Pro)	PORCN (R124P +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1230887	NM_203475.3(PORCN):c.373+150G>A	PORCN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2446474	NM_203475.3(PORCN):c.374-15G>A	PORCN	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1315505	NM_203475.3(PORCN):c.374-2A>G	PORCN	Single nucleotide variant (splice acceptor variant)	Focal dermal hypoplasia	GPathogenic
Select item 633575	NM_203475.3(PORCN):c.395T>G (p.Met132Arg)	PORCN (M132R +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2909858	NM_203475.3(PORCN):c.423G>A (p.Leu141=)	PORCN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3308929	NM_203475.3(PORCN):c.433G>A (p.Glu145Lys)	PORCN (E74K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 516503	NM_203475.3(PORCN):c.452C>T (p.Ser151Leu)	PORCN (S151L +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 590245	NM_203475.3(PORCN):c.453G>A (p.Ser151=)	PORCN	Single nucleotide variant (synonymous variant)	History of neurodevelopmental disorder +1 more	GLikely benign
Select item 1335765	NM_203475.3(PORCN):c.478T>A (p.Tyr160Asn)	PORCN (Y160N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2785257	NM_203475.3(PORCN):c.492C>T (p.Thr164=)	PORCN	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2628346	NM_203475.3(PORCN):c.502G>A (p.Gly168Arg)	PORCN (G168R +1 more)	Single nucleotide variant (missense variant)	Focal dermal hypoplasia	GPathogenic
Select item 1966908	NM_203475.3(PORCN):c.504G>A (p.Gly168=)	PORCN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2130172	NM_203475.3(PORCN):c.547C>T (p.Arg183Cys)	PORCN (R183C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2413712	NM_203475.3(PORCN):c.548G>A (p.Arg183His)	PORCN (R112H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 374245	NM_203475.3(PORCN):c.565T>C (p.Trp189Arg)	PORCN (W189R +1 more)	Single nucleotide variant (missense variant)	Focal dermal hypoplasia	GLikely pathogenic
Select item 1371874	NM_203475.3(PORCN):c.566G>A (p.Trp189Ter)	PORCN (W118* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 3345773	NM_203475.3(PORCN):c.571C>T (p.Gln191Ter)	PORCN (Q120* +1 more)	Single nucleotide variant (nonsense)	PORCN-related disorder	GPathogenic
Select item 2660453	NM_203475.3(PORCN):c.616C>T (p.Leu206=)	PORCN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1306716	NM_203475.3(PORCN):c.623C>T (p.Thr208Ile)	PORCN (T137I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 977623	NM_203475.3(PORCN):c.626G>C (p.Cys209Ser)	PORCN (C138S +1 more)	Single nucleotide variant (missense variant)	Global developmental delay	GPathogenic
Select item 2412895	NM_203475.3(PORCN):c.628G>T (p.Val210Leu)	PORCN (V139L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1803305	NM_203475.3(PORCN):c.628G>A (p.Val210Met)	PORCN (V139M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1313841	NM_203475.3(PORCN):c.631G>A (p.Gly211Ser)	PORCN (G140S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 197905	NM_203475.3(PORCN):c.633C>T (p.Gly211=)	PORCN	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 2631169	NM_203475.3(PORCN):c.661del (p.Leu221fs)	PORCN (L150fs +1 more)	Deletion (frameshift variant)	PORCN-related disorder	GPathogenic
Select item 1913024	NM_203475.3(PORCN):c.667G>A (p.Gly223Ser)	PORCN (G152S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3355066	NM_203475.3(PORCN):c.683G>T (p.Arg228Leu)	PORCN (R157L +1 more)	Single nucleotide variant (missense variant)	PORCN-related disorder	GUncertain significance
Select item 1575497	NM_203475.3(PORCN):c.683G>A (p.Arg228His)	PORCN (R157H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GBenign/Likely benign
Select item 1290291	NM_203475.3(PORCN):c.704+146C>T	PORCN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2125175	NM_203475.3(PORCN):c.705-6C>T	PORCN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1756900	NM_203475.3(PORCN):c.705-3T>G	PORCN	Single nucleotide variant (intron variant)	Inborn genetic diseases	GLikely benign
Select item 2549000	NM_203475.3(PORCN):c.713T>C (p.Met238Thr)	PORCN (M238T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1243363	NM_203475.3(PORCN):c.720-28C>T	PORCN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2960918	NM_203475.3(PORCN):c.720-16G>A	PORCN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 392684	NM_203475.3(PORCN):c.720-2A>C	PORCN	Single nucleotide variant (splice acceptor variant)	not provided	GPathogenic
Select item 1012865	NM_203475.3(PORCN):c.725T>A (p.Leu242Gln)	PORCN (L160Q +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1758058	NM_203475.3(PORCN):c.727C>T (p.Arg243Ter)	PORCN (R232* +4 more)	Single nucleotide variant (nonsense)	Focal dermal hypoplasia +1 more	GPathogenic
Select item 1312905	NM_203475.3(PORCN):c.765C>A (p.Asn255Lys)	PORCN (N173K +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2660454	NM_203475.3(PORCN):c.779T>C (p.Phe260Ser)	PORCN (F178S +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1298380	NM_203475.3(PORCN):c.782T>C (p.Leu261Pro)	PORCN (L179P +4 more)	Single nucleotide variant (missense variant)	Focal dermal hypoplasia	GLikely pathogenic
Select item 449084	NM_203475.3(PORCN):c.787G>A (p.Glu263Lys)	PORCN (E258K +4 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 773621	NM_203475.3(PORCN):c.794C>T (p.Thr265Met)	PORCN (T260M +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 1925487	NM_203475.3(PORCN):c.823G>A (p.Glu275Lys)	PORCN (E193K +4 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2628347	NM_203475.3(PORCN):c.846-2A>G	PORCN	Single nucleotide variant (splice acceptor variant)	Focal dermal hypoplasia	GPathogenic
Select item 451299	NM_203475.3(PORCN):c.854_871del (p.Thr285_Leu290del)	PORCN	Deletion (inframe_deletion)	not provided	GLikely pathogenic
Select item 487812	NM_203475.3(PORCN):c.853_854delinsCCCCCAG (p.Thr285fs)	PORCN (T274fs +4 more)	Indel (frameshift variant)	Focal dermal hypoplasia	GUncertain significance
Select item 749592	NM_203475.3(PORCN):c.854C>T (p.Thr285Met)	PORCN (T274M +4 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 729478	NM_203475.3(PORCN):c.872A>C (p.Asn291Thr)	PORCN (N285T +4 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 984654	NM_203475.3(PORCN):c.884C>T (p.Pro295Leu)	PORCN (P213L +4 more)	Single nucleotide variant (missense variant)	Focal dermal hypoplasia	GLikely pathogenic
Select item 2090560	NM_203475.3(PORCN):c.887G>C (p.Arg296Pro)	PORCN (R214P +4 more)	Single nucleotide variant (missense variant)	Focal dermal hypoplasia +1 more	GConflicting classifications of pathogenicity
Select item 1592185	NM_203475.3(PORCN):c.896T>C (p.Val299Ala)	PORCN (V217A +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1305553	NM_203475.3(PORCN):c.901G>T (p.Val301Phe)	PORCN (V219F +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3347712	NM_203475.3(PORCN):c.904G>T (p.Val302Phe)	PORCN (V220F +4 more)	Single nucleotide variant (missense variant)	PORCN-related disorder	GUncertain significance
Select item 723962	NM_203475.3(PORCN):c.912C>T (p.Ser304=)	PORCN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3338813	NM_203475.3(PORCN):c.914G>A (p.Trp305Ter)	PORCN (W223* +4 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 589007	NM_203475.3(PORCN):c.930T>G (p.Ser310=)	PORCN	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GBenign
Select item 1410449	NM_203475.3(PORCN):c.935G>A (p.Trp312Ter)	PORCN (W312* +4 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1323491	NM_203475.3(PORCN):c.946+2_946+3del	PORCN	Microsatellite (splice donor variant)	Focal dermal hypoplasia +1 more	GPathogenic
Select item 1277856	NM_203475.3(PORCN):c.946+217A>T	PORCN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3341784	NM_203475.3(PORCN):c.947-6C>G	PORCN	Single nucleotide variant (intron variant)	not provided	GLikely benign

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