ClinVar for Gene (Select 64840) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3064465	NM_203475.3(PORCN):c.1012G>T (p.Ala338Ser)	PORCN (A256S +4 more)	Single nucleotide variant (missense variant)	Focal dermal hypoplasia	GUncertain significance
Select item 3062511	GRCh37/hg19 Xp22.33-11.1(chrX:168546-58364114)	ACE2, ACOT9 +314 more	Copy number loss	not specified	GPathogenic
Select item 3062471	GRCh37/hg19 Xp22.33-11.21(chrX:168546-55653170)	ACE2, ACOT9 +305 more	Copy number loss	not specified	GPathogenic
Select item 3056713	NM_203475.3(PORCN):c.231G>A (p.Leu77=)	PORCN	Single nucleotide variant (synonymous variant)	PORCN-related condition	GLikely benign
Select item 3052914	NM_203475.3(PORCN):c.1076_1077dup (p.Val360fs)	PORCN (V278fs +4 more)	Duplication (frameshift variant)	PORCN-related condition	GPathogenic
Select item 3031345	NM_203475.3(PORCN):c.1315_1316del (p.Trp439fs)	PORCN (W357fs +4 more)	Deletion (frameshift variant)	PORCN-related condition	GLikely pathogenic
Select item 2996304	NM_203475.3(PORCN):c.1271C>A (p.Thr424Asn)	PORCN (T342N +4 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2970707	NM_203475.3(PORCN):c.1242C>A (p.Gly414=)	PORCN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2960918	NM_203475.3(PORCN):c.720-16G>A	PORCN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2909858	NM_203475.3(PORCN):c.423G>A (p.Leu141=)	PORCN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2845145	NC_000023.11:g.48515891del	PORCN	Deletion	not provided	GPathogenic
Select item 2836761	NM_203475.3(PORCN):c.1312A>C (p.Lys438Gln)	PORCN (K356Q +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2824191	NM_203475.3(PORCN):c.78T>C (p.Leu26=)	PORCN	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2798221	NM_203475.3(PORCN):c.1046C>T (p.Ala349Val)	PORCN (A267V +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2785257	NM_203475.3(PORCN):c.492C>T (p.Thr164=)	PORCN	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2743351	NM_203475.3(PORCN):c.1176C>A (p.Gly392=)	PORCN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2699073	NM_203475.3(PORCN):c.1037A>G (p.His346Arg)	PORCN (H340R +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2685708	GRCh37/hg19 Xp21.1-11.22(chrX:36355238-54106257)x1	CCDC22, CFP +155 more	Copy number loss	not provided	GPathogenic
Select item 2685690	GRCh37/hg19 Xp22.33-11.22(chrX:2696762-53113314)x1	HDAC6, RGN +275 more	Copy number loss	not provided	GPathogenic
Select item 2684980	GRCh37/hg19 Xp11.23-11.22(chrX:48224455-52832596)x3	AKAP4, BMP15 +75 more	Copy number gain	not provided	GPathogenic
Select item 2671905	NM_203475.3(PORCN):c.1076dup (p.Tyr359Ter)	PORCN (Y277* +4 more)	Duplication (nonsense)	Focal dermal hypoplasia	GPathogenic
Select item 2663842	NM_203475.3(PORCN):c.1284+1G>A	PORCN	Single nucleotide variant (splice donor variant)	Focal dermal hypoplasia	GLikely pathogenic
Select item 2663841	NM_203475.3(PORCN):c.1225C>T (p.His409Tyr)	PORCN (H327Y +4 more)	Single nucleotide variant (missense variant)	Focal dermal hypoplasia	GUncertain significance
Select item 2660455	NM_203475.3(PORCN):c.1328G>C (p.Ser443Thr)	PORCN (S361T +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 2660453	NM_203475.3(PORCN):c.616C>T (p.Leu206=)	PORCN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2633672	NM_203475.3(PORCN):c.983C>T (p.Ser328Leu)	PORCN (S246L +4 more)	Single nucleotide variant (missense variant)	PORCN-related condition +1 more	GUncertain significance
Select item 2631169	NM_203475.3(PORCN):c.661del (p.Leu221fs)	PORCN (L150fs +1 more)	Deletion (frameshift variant)	PORCN-related condition	GPathogenic
Select item 2628347	NM_203475.3(PORCN):c.846-2A>G	PORCN	Single nucleotide variant (splice acceptor variant)	Focal dermal hypoplasia	GPathogenic
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 2580918	NM_203475.3(PORCN):c.329+1G>C	PORCN	Single nucleotide variant (splice donor variant)	Focal dermal hypoplasia	GUncertain significance
Select item 2572934	NM_203475.3(PORCN):c.329+3A>G	PORCN	Single nucleotide variant (intron variant)	not provided	GUncertain significance
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 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 2506546	GRCh37/hg19 Xp22.33-q28(chrX:200855-155240074)	BMX, CXorf38 +821 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 2502310	NM_203475.3(PORCN):c.1077_1078insAAC (p.Tyr359_Val360insAsn)	PORCN	Insertion (inframe_insertion)	Focal dermal hypoplasia	GLikely pathogenic
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 2446474	NM_203475.3(PORCN):c.374-15G>A	PORCN	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2445496	NC_000023.10:g.(?_46466387)_(51241672_?)del	CCDC120, ZNF630 +91 more	Deletion	not provided	GPathogenic
Select item 2425881	NC_000023.10:g.(?_46466387)_(50659607_?)del	AKAP4, ARAF +89 more	Deletion	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	GPathogenic
Select item 2425308	NC_000023.10:g.(?_48368209)_(51241672_?)del	AKAP4, BMP15 +60 more	Deletion	not provided	GPathogenic
Select item 2423581	NC_000023.10:g.(?_47001716)_(50659607_?)dup	AKAP4, ARAF +85 more	Duplication	Neurodegeneration with brain iron accumulation 5 +2 more	GUncertain significance
Select item 2422979	NC_000023.10:g.(?_48368209)_(51241672_?)dup	CCNB3, AKAP4 +60 more	Duplication	Thrombocytopenia 1 +2 more	GUncertain significance
Select item 2422978	NC_000023.10:g.(?_46618120)_(48549553_?)del	ARAF, CDK16 +35 more	Deletion	not provided	GPathogenic
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 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 2368214	NM_203475.3(PORCN):c.1004C>T (p.Ala335Val)	PORCN (A335V +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2227168	NM_203475.3(PORCN):c.1284G>C (p.Gln428His)	PORCN (Q346H +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2125175	NM_203475.3(PORCN):c.705-6C>T	PORCN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2115190	NM_203475.3(PORCN):c.330-1G>T	PORCN	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
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 2090560	NM_203475.3(PORCN):c.887G>C (p.Arg296Pro)	PORCN (R214P +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2066977	NM_203475.3(PORCN):c.1363A>G (p.Ile455Val)	PORCN (I450V +4 more)	Single nucleotide variant (missense variant)	not provided	GBenign
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 1991744	NM_203475.3(PORCN):c.1284+12C>T	PORCN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1986496	NM_203475.3(PORCN):c.136G>A (p.Gly46Arg)	PORCN (G46R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1966908	NM_203475.3(PORCN):c.504G>A (p.Gly168=)	PORCN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1964984	NM_203475.3(PORCN):c.1047G>A (p.Ala349=)	PORCN	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 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 1904089	NM_203475.3(PORCN):c.1145C>T (p.Pro382Leu)	PORCN (P371L +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1900968	NM_203475.3(PORCN):c.1294A>C (p.Met432Leu)	PORCN (M421L +4 more)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 1879763	NM_203475.3(PORCN):c.1055T>C (p.Leu352Pro)	PORCN (L270P +4 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1808658	GRCh37/hg19 Xp11.4-11.22(chrX:39525562-52832596)x3	AKAP4, ARAF +126 more	Copy number gain	not provided	GPathogenic
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 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 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 1763310	NM_203475.3(PORCN):c.1261G>A (p.Val421Met)	PORCN (V416M +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1758058	NM_203475.3(PORCN):c.727C>T (p.Arg243Ter)	PORCN (R232* +4 more)	Single nucleotide variant (nonsense)	Inborn genetic diseases +1 more	GPathogenic
Select item 1756900	NM_203475.3(PORCN):c.705-3T>G	PORCN	Single nucleotide variant (intron variant)	Inborn genetic diseases	GLikely benign
Select item 1738725	NM_203475.3(PORCN):c.1168C>T (p.Arg390Cys)	PORCN (R308C +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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	GConflicting classifications of pathogenicity
Select item 1707442	GRCh37/hg19 Xp22.2-q28(chrX:11522765-155233731)x1	MIR224, MIR424 +793 more	Copy number loss	See cases	GPathogenic
Select item 1704345	GRCh37/hg19 Xp22.33-q28(chrX:61545-155226048)x2	CT55, CT83 +821 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 1703583	GRCh37/hg19 Xp22.33-11.21(chrX:168546-57841304)	ACE2, ACOT9 +315 more	Copy number loss	Turner syndrome	GPathogenic
Select item 1703582	Single allele	ADGRG2, ACE2 +309 more	Complex	Turner syndrome	GPathogenic
Select item 1703581	GRCh37/hg19 Xp22.33-11.22(chrX:168546-52573789)	ACE2, ACOT9 +267 more	Copy number loss	Turner syndrome	GPathogenic
Select item 1703580	GRCh37/hg19 Xp22.33-q28(chrX:1-155270560)	ABCB7, ABCD1 +822 more	Copy number loss	Turner syndrome	GPathogenic
Select item 1703579	GRCh37/hg19 Xp22.33-q28(chrX:1-155270560)	SCML2, SEPTIN6 +822 more	Copy number gain	Hypotonia +2 more	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 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 1575497	NM_203475.3(PORCN):c.683G>A (p.Arg228His)	PORCN (R157H +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
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 1441030	NM_203475.3(PORCN):c.983C>A (p.Ser328Ter)	PORCN (S322* +4 more)	Single nucleotide variant (nonsense)	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 1410449	NM_203475.3(PORCN):c.935G>A (p.Trp312Ter)	PORCN (W312* +4 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1371874	NM_203475.3(PORCN):c.566G>A (p.Trp189Ter)	PORCN (W118* +1 more)	Single nucleotide variant (nonsense)	Inborn genetic diseases +1 more	GPathogenic
Select item 1341233	GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1	CXorf51B, GAGE12H +821 more	Copy number loss	not provided	GPathogenic
Select item 1341223	GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3	ABCB7, ABCD1 +821 more	Copy number gain	not provided	GPathogenic
Select item 1338975	NM_203475.3(PORCN):c.1186C>T (p.Arg396Ter)	PORCN (R314* +4 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
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 1323491	NM_203475.3(PORCN):c.946+2_946+3del	PORCN	Microsatellite (splice donor variant)	Focal dermal hypoplasia +1 more	GPathogenic
Select item 1315505	NM_203475.3(PORCN):c.374-2A>G	PORCN	Single nucleotide variant (splice acceptor variant)	Focal dermal hypoplasia	GPathogenic
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 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 1306716	NM_203475.3(PORCN):c.623C>T (p.Thr208Ile)	PORCN (T137I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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