ClinVar for Gene (Select 5333) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3068029	NM_006225.4(PLCD1):c.1137+5G>C	PLCD1	Single nucleotide variant (non-coding transcript variant +1 more)	Nonsyndromic congenital nail disorder 3	GUncertain significance
Select item 3065906	NM_006225.4(PLCD1):c.1205C>T (p.Ala402Val)	PLCD1 (A402V +1 more)	Single nucleotide variant (missense variant +1 more)	Nonsyndromic congenital nail disorder 3	GUncertain significance
Select item 3065867	NM_006225.4(PLCD1):c.1118T>C (p.Ile373Thr)	PLCD1 (I373T +1 more)	Single nucleotide variant (missense variant +1 more)	Nonsyndromic congenital nail disorder 3	GUncertain significance
Select item 3058968	NM_006225.4(PLCD1):c.1379C>T (p.Ser460Leu)	PLCD1 (S460L +1 more)	Single nucleotide variant (missense variant +1 more)	PLCD1-related condition	GBenign
Select item 3057682	NM_006225.4(PLCD1):c.1638C>T (p.His546=)	PLCD1	Single nucleotide variant (synonymous variant +1 more)	PLCD1-related condition	GLikely benign
Select item 3051795	NM_006225.4(PLCD1):c.993-4G>A	PLCD1	Single nucleotide variant (intron variant)	PLCD1-related condition	GLikely benign
Select item 3050810	NM_006225.4(PLCD1):c.747G>A (p.Ala249=)	PLCD1	Single nucleotide variant (synonymous variant +1 more)	PLCD1-related condition	GLikely benign
Select item 3046127	NM_006225.4(PLCD1):c.993-5C>T	PLCD1	Single nucleotide variant (intron variant)	PLCD1-related condition	GLikely benign
Select item 3044078	NM_006225.4(PLCD1):c.1644C>T (p.Ser548=)	PLCD1	Single nucleotide variant (synonymous variant +1 more)	PLCD1-related condition	GLikely benign
Select item 3040884	NM_006225.4(PLCD1):c.102C>T (p.Ser34=)	PLCD1	Single nucleotide variant (synonymous variant +1 more)	PLCD1-related condition	GLikely benign
Select item 3040855	NM_006225.4(PLCD1):c.843G>A (p.Ser281=)	PLCD1	Single nucleotide variant (synonymous variant +1 more)	PLCD1-related condition	GLikely benign
Select item 3036543	NM_006225.4(PLCD1):c.147G>A (p.Lys49=)	PLCD1	Single nucleotide variant (synonymous variant +1 more)	PLCD1-related condition	GLikely benign
Select item 3032889	NM_006225.4(PLCD1):c.429-5C>T	PLCD1	Single nucleotide variant (intron variant)	PLCD1-related condition	GLikely benign
Select item 3026759	NM_006225.4(PLCD1):c.939C>G (p.Thr313=)	PLCD1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2685914	GRCh37/hg19 3p22.2(chr3:37338764-38109534)x3	APRG1, CTDSPL +6 more	Copy number gain	not provided	GUncertain significance
Select item 2663335	NM_006225.4(PLCD1):c.992G>A (p.Arg331Gln)	PLCD1 (R331Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 2635865	NM_006225.4(PLCD1):c.1483del (p.Met495fs)	PLCD1 (M495fs +1 more)	Deletion (frameshift variant +1 more)	PLCD1-related condition	GLikely pathogenic
Select item 2607385	NM_006225.4(PLCD1):c.617A>G (p.Lys206Arg)	PLCD1 (K206R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2605562	NM_006225.4(PLCD1):c.1207C>T (p.Arg403Trp)	PLCD1 (R403W +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2604853	NM_006225.4(PLCD1):c.2134A>C (p.Lys712Gln)	PLCD1 (K712Q +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2601560	NM_006225.4(PLCD1):c.166C>T (p.Arg56Cys)	PLCD1 (R77C +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2597529	NM_006225.4(PLCD1):c.2008C>T (p.Arg670Cys)	PLCD1 (R670C +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2589331	NM_006225.4(PLCD1):c.1940A>G (p.Asn647Ser)	PLCD1 (N647S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2559520	NM_006225.4(PLCD1):c.1538C>G (p.Pro513Arg)	PLCD1 (P513R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2550647	NM_006225.4(PLCD1):c.440C>T (p.Ser147Phe)	PLCD1 (S147F +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2547322	NM_006225.4(PLCD1):c.1342C>T (p.Pro448Ser)	PLCD1 (P448S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2542452	NM_006225.4(PLCD1):c.991C>T (p.Arg331Trp)	PLCD1 (R331W +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2539938	NM_006225.4(PLCD1):c.119G>A (p.Arg40His)	PLCD1 (R40H +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2525840	NM_006225.4(PLCD1):c.2013G>C (p.Gln671His)	PLCD1 (Q671H +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2516335	NM_006225.4(PLCD1):c.1687A>G (p.Ser563Gly)	PLCD1 (S563G +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2514169	NM_006225.4(PLCD1):c.1069G>A (p.Gly357Ser)	PLCD1 (G357S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2508913	NM_006225.4(PLCD1):c.179G>A (p.Arg60Gln)	PLCD1 (R60Q +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2493953	NM_006225.4(PLCD1):c.1816G>A (p.Ala606Thr)	PLCD1 (A606T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2473899	NM_006225.4(PLCD1):c.31C>T (p.His11Tyr)	PLCD1 (H11Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2467268	NM_006225.4(PLCD1):c.686C>T (p.Ser229Leu)	PLCD1 (S229L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2458274	NM_006225.4(PLCD1):c.284G>A (p.Arg95His)	PLCD1 (R116H +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2455299	NM_006225.4(PLCD1):c.178C>T (p.Arg60Trp)	PLCD1 (R60W +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2455046	NM_006225.4(PLCD1):c.1427G>A (p.Arg476His)	PLCD1 (R497H +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2412063	NM_006225.4(PLCD1):c.352G>A (p.Ala118Thr)	PLCD1 (A118T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2400624	NM_006225.4(PLCD1):c.1496G>C (p.Cys499Ser)	PLCD1 (C499S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2378864	NM_006225.4(PLCD1):c.2057C>T (p.Thr686Met)	PLCD1 (T707M +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2378328	NM_006225.4(PLCD1):c.658G>A (p.Glu220Lys)	PLCD1 (E220K +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2370884	NM_006225.4(PLCD1):c.1849C>T (p.Pro617Ser)	PLCD1 (P617S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2364773	NM_006225.4(PLCD1):c.856G>A (p.Ala286Thr)	PLCD1 (A307T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2356566	NM_006225.4(PLCD1):c.2128T>A (p.Ser710Thr)	PLCD1 (S710T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2356541	NM_006225.4(PLCD1):c.62C>T (p.Ala21Val)	PLCD1 (A21V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2352868	NM_006225.4(PLCD1):c.1198G>A (p.Val400Met)	PLCD1 (V421M +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2352187	NM_006225.4(PLCD1):c.2009G>A (p.Arg670His)	PLCD1 (R670H +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2324609	NM_006225.4(PLCD1):c.556A>T (p.Arg186Trp)	PLCD1 (R207W +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2316709	NM_006225.4(PLCD1):c.1250C>G (p.Pro417Arg)	PLCD1 (P417R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2315131	NM_006225.4(PLCD1):c.1057A>G (p.Ile353Val)	PLCD1 (I353V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2311587	NM_006225.4(PLCD1):c.1441C>A (p.Pro481Thr)	PLCD1 (P481T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2308842	NM_006225.4(PLCD1):c.578C>T (p.Thr193Ile)	PLCD1 (T193I +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2304494	NM_006225.4(PLCD1):c.632G>A (p.Arg211Gln)	PLCD1 (R211Q +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2293925	NM_006225.4(PLCD1):c.1789G>A (p.Gly597Arg)	PLCD1 (G597R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2293881	NM_006225.4(PLCD1):c.380A>G (p.Lys127Arg)	PLCD1 (K127R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2267694	NM_006225.4(PLCD1):c.479T>G (p.Met160Arg)	PLCD1 (M181R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2255645	NM_006225.4(PLCD1):c.35-4069G>A	PLCD1 (G5R)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2250891	NM_006225.4(PLCD1):c.1553A>G (p.Tyr518Cys)	PLCD1 (Y539C +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2242164	NM_006225.4(PLCD1):c.1508A>C (p.His503Pro)	PLCD1 (H503P +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2230584	NM_006225.4(PLCD1):c.704C>T (p.Thr235Met)	PLCD1 (T256M +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2214844	NM_006225.4(PLCD1):c.25A>T (p.Thr9Ser)	PLCD1 (T9S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2211847	NM_006225.4(PLCD1):c.1948T>G (p.Ser650Ala)	PLCD1 (S650A +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2207452	NM_006225.4(PLCD1):c.1888C>T (p.Arg630Trp)	PLCD1 (R630W +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2206793	NM_006225.4(PLCD1):c.35-3988C>G	PLCD1 (L32V)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2064069	NM_006225.4(PLCD1):c.1588C>T (p.Arg530Ter)	PLCD1 (R551* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 1527008	GRCh37/hg19 3p22.2(chr3:37347773-38109534)	APRG1, CTDSPL +6 more	Copy number gain	not specified	GUncertain significance
Select item 1455527	NC_000003.11:g.(?_16710965)_(41275270_?)del	EFHB, EIF1B +93 more	Deletion	not provided	GPathogenic
Select item 1373543	NC_000003.11:g.(?_37034542)_(38835501_?)dup	ACAA1, ACVR2B +19 more	Duplication	Heterotaxy, visceral, 4, autosomal	GUncertain significance
Select item 1333358	NM_006225.4(PLCD1):c.1016G>T (p.Cys339Phe)	PLCD1 (C339F +1 more)	Single nucleotide variant (missense variant +1 more)	Nonsyndromic congenital nail disorder 3	GUncertain significance
Select item 1314291	NM_006225.4(PLCD1):c.1836C>A (p.Asn612Lys)	PLCD1 (N612K +1 more)	Single nucleotide variant (missense variant +1 more)	PLCD1-related condition +1 more	GConflicting classifications of pathogenicity
Select item 1305116	NM_006225.4(PLCD1):c.1397C>G (p.Ala466Gly)	PLCD1 (A466G +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1291715	NM_006225.4(PLCD1):c.1724-186C>G	PLCD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1283648	NM_006225.4(PLCD1):c.200-274C>G	PLCD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1282299	NM_006225.4(PLCD1):c.429-159_429-158insTAACGGGACG	PLCD1	Insertion (intron variant)	not provided	GBenign
Select item 1281242	NM_006225.4(PLCD1):c.200-175C>A	PLCD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1275453	NM_006225.4(PLCD1):c.*234del	PLCD1	Deletion (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1273578	NM_006225.4(PLCD1):c.1607-42C>T	PLCD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1269433	NM_006225.4(PLCD1):c.34+257A>T	PLCD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1265892	NM_006225.4(PLCD1):c.199+139T>C	PLCD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1260022	NM_006225.4(PLCD1):c.200-31C>G	PLCD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1258434	NM_006225.4(PLCD1):c.200-257T>C	PLCD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1258332	NM_006225.4(PLCD1):c.428+84T>C	PLCD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1249991	NM_006225.4(PLCD1):c.691G>A (p.Asp231Asn)	PLCD1 (D231N +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign
Select item 1247370	NC_000003.12:g.38029646C>T	PLCD1	Single nucleotide variant	not provided	GBenign
Select item 1244336	NM_006225.4(PLCD1):c.130T>C (p.Leu44=)	PLCD1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 1244332	NM_006225.4(PLCD1):c.1724-32C>T	PLCD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1244265	NM_006225.4(PLCD1):c.903A>G (p.Pro301=)	PLCD1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 1237863	NM_006225.4(PLCD1):c.770G>A (p.Arg257His)	PLCD1 (R257H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 1228231	NM_006225.4(PLCD1):c.366G>A (p.Val122=)	PLCD1	Single nucleotide variant (synonymous variant +1 more)	PLCD1-related condition +1 more	GBenign
Select item 1221088	NM_006225.4(PLCD1):c.790+300dup	PLCD1	Duplication (intron variant)	not provided	GBenign
Select item 1180373	NM_006225.4(PLCD1):c.790+92C>G	PLCD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1177793	NM_006225.4(PLCD1):c.429-42A>G	PLCD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1074942	NM_006225.4(PLCD1):c.1738C>T (p.Gln580Ter)	PLCD1 (Q580* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 1050045	NM_006225.4(PLCD1):c.678_692del (p.Glu226_Val230del)	PLCD1	Deletion (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 1049906	NM_006225.4(PLCD1):c.650C>A (p.Thr217Asn)	PLCD1 (T217N +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 870546	NM_006225.4(PLCD1):c.631C>T (p.Arg211Trp)	PLCD1 (R211W +1 more)	Single nucleotide variant (missense variant +1 more)	Primary degenerative dementia of the Alzheimer type, presenile onset	GUncertain significance
Select item 830760	NC_000003.12:g.(?_37452365)_(38950372_?)dup	DLEC1, EXOG +15 more	Duplication	Heterotaxy, visceral, 4, autosomal	GUncertain significance
Select item 814435	GRCh37/hg19 3p22.2(chr3:37987092-38194369)x3	MIR26A1, DLEC1 +5 more	Copy number gain	not provided	GUncertain significance
Select item 789276	NM_006225.4(PLCD1):c.1554C>T (p.Tyr518=)	PLCD1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign/Likely benign

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