PHC2[gene] - ClinVar

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Items: 76

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2664871	GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	LOC112577491, LOC112577504 +2149 more	Copy number gain	Trisomy 12p	GPathogenic
Select item 149963	GRCh38/hg38 1p36.11-34.2(chr1:24381206-41401517)x3	LOC129929733, LOC129929734 +1145 more	Copy number gain	See cases	GPathogenic
Select item 59931	GRCh38/hg38 1p35.2-35.1(chr1:30766758-33359428)x1	A3GALT2, ADGRB2 +214 more	Copy number loss	See cases	GPathogenic
Select item 2672311	Single allele	ARTN, ATP6V0B +1226 more	Inversion	Bilateral polymicrogyria	GLikely pathogenic
Select item 3211998	NM_001385109.1(PHC2):c.2574C>G (p.Asp858Glu)	PHC2 (D829E +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211997	NM_001385109.1(PHC2):c.2512G>A (p.Ala838Thr)	PHC2 (A302T +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211996	NM_001385109.1(PHC2):c.2416T>G (p.Ser806Ala)	PHC2 (S828A +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403705	NM_001385109.1(PHC2):c.2378C>G (p.Thr793Ser)	PHC2 (T257S +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211995	NM_001385109.1(PHC2):c.2341G>A (p.Val781Met)	PHC2 (V779M +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211994	NM_001385109.1(PHC2):c.2323A>G (p.Met775Val)	PHC2 (M746V +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461821	NM_001385109.1(PHC2):c.2303G>A (p.Arg768Gln)	PHC2 (R526Q +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307396	NM_001385109.1(PHC2):c.2230A>G (p.Asn744Asp)	PHC2 (N502D +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2230025	NM_001385109.1(PHC2):c.2219G>A (p.Arg740His)	PHC2 (R498H +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554645	NM_001385109.1(PHC2):c.2125C>T (p.Leu709Phe)	PHC2 (L173F +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211991	NM_001385109.1(PHC2):c.2120C>T (p.Pro707Leu)	PHC2 (P707L +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211990	NM_001385109.1(PHC2):c.2098C>G (p.Arg700Gly)	PHC2 (R458G +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211989	NM_001385109.1(PHC2):c.2095C>T (p.Arg699Cys)	PHC2 (R697C +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2619370	NM_001385109.1(PHC2):c.1879C>T (p.Pro627Ser)	PHC2 (P626S +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 715331	NM_001385109.1(PHC2):c.1866G>A (p.Ser622=)	PHC2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2298134	NM_001385109.1(PHC2):c.1781T>C (p.Leu594Pro)	PHC2 (L616P +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479877	NM_001385109.1(PHC2):c.1760C>T (p.Pro587Leu)	PHC2 (P345L +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 770113	NM_001385109.1(PHC2):c.1645G>A (p.Ala549Thr)	PHC2 (A13T +6 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2523069	NM_001385109.1(PHC2):c.1642A>G (p.Ile548Val)	PHC2 (I519V +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214827	NM_001385109.1(PHC2):c.1594C>T (p.Leu532Phe)	PHC2 (L532F +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2458625	NM_001385109.1(PHC2):c.1574T>C (p.Ile525Thr)	PHC2 (I496T +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3211988	NM_001385109.1(PHC2):c.1573A>G (p.Ile525Val)	PHC2 (I525V +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2207174	NM_001385109.1(PHC2):c.1552G>T (p.Ala518Ser)	PHC2, PHC2-AS1 (A276S +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307178	NM_001385109.1(PHC2):c.1549C>T (p.Pro517Ser)	PHC2, PHC2-AS1 (P275S +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 743098	NM_001385109.1(PHC2):c.1544C>T (p.Pro515Leu)	PHC2, PHC2-AS1 (P514L +5 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2555178	NM_001385109.1(PHC2):c.1526C>T (p.Thr509Met)	PHC2, PHC2-AS1 (T267M +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207172	NM_001385109.1(PHC2):c.1487C>A (p.Ala496Asp)	PHC2, PHC2-AS1 (A467D +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211987	NM_001385109.1(PHC2):c.1459C>T (p.Arg487Trp)	PHC2, PHC2-AS1 (R486W +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542101	NM_001385109.1(PHC2):c.1457C>T (p.Thr486Met)	PHC2, PHC2-AS1 (T484M +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243512	NM_001385109.1(PHC2):c.1369C>A (p.Gln457Lys)	PHC2, PHC2-AS1 (Q428K +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484339	NM_001385109.1(PHC2):c.1316G>C (p.Gly439Ala)	PHC2, PHC2-AS1 (G197A +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 767664	NM_001385109.1(PHC2):c.1311C>T (p.Pro437=)	PHC2-AS1, PHC2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2391275	NM_001385109.1(PHC2):c.1199C>T (p.Pro400Leu)	PHC2, PHC2-AS1 (P400L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552757	NM_001385109.1(PHC2):c.1156G>A (p.Ala386Thr)	PHC2, PHC2-AS1 (A144T +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 725556	NM_001385109.1(PHC2):c.1100G>A (p.Arg367Gln)	PHC2, PHC2-AS1 (R367Q +4 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2638621	NM_001385109.1(PHC2):c.978C>T (p.Ala326=)	PHC2, PHC2-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2475204	NM_001385109.1(PHC2):c.940G>A (p.Val314Ile)	PHC2 (V285I +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2297938	NM_001385109.1(PHC2):c.928C>G (p.Leu310Val)	PHC2 (L281V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2638622	NM_001385109.1(PHC2):c.924T>C (p.Ala308=)	PHC2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2371998	NM_001385109.1(PHC2):c.920G>A (p.Arg307Gln)	PHC2 (R307Q +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3212006	NM_001385109.1(PHC2):c.911T>C (p.Met304Thr)	PHC2 (M275T +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3212005	NM_001385109.1(PHC2):c.829G>A (p.Ala277Thr)	PHC2 (A277T +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3212004	NM_001385109.1(PHC2):c.827C>T (p.Pro276Leu)	PHC2 (P274L +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2364358	NM_001385109.1(PHC2):c.821C>T (p.Ala274Val)	PHC2 (A274V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2392008	NM_001385109.1(PHC2):c.764C>T (p.Thr255Met)	PHC2 (T226M +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2270474	NM_001385109.1(PHC2):c.683G>A (p.Arg228Gln)	PHC2 (R228Q +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2371118	NM_001385109.1(PHC2):c.653C>A (p.Thr218Asn)	PHC2 (T218N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2303706	NM_001385109.1(PHC2):c.644G>A (p.Arg215Gln)	PHC2 (R215Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2454918	NM_001385109.1(PHC2):c.593C>T (p.Thr198Met)	PHC2 (T220M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3212002	NM_001385109.1(PHC2):c.521C>T (p.Thr174Met)	PHC2 (T174M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2387605	NM_001385109.1(PHC2):c.460C>A (p.Gln154Lys)	PHC2 (Q154K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2397636	NM_001385109.1(PHC2):c.455G>A (p.Arg152Gln)	PHC2 (R152Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3212001	NM_001385109.1(PHC2):c.446T>A (p.Leu149His)	PHC2 (L149H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2248175	NM_001385109.1(PHC2):c.410C>T (p.Ser137Leu)	PHC2 (S137L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2598396	NM_001385109.1(PHC2):c.376A>T (p.Asn126Tyr)	PHC2 (N126Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3212000	NM_001385109.1(PHC2):c.350A>G (p.Asn117Ser)	PHC2 (N117S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2461980	NM_001385109.1(PHC2):c.301G>A (p.Ala101Thr)	PHC2 (A101T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320296	NM_001385109.1(PHC2):c.277C>T (p.Leu93Phe)	PHC2 (L93F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211992	NM_001385109.1(PHC2):c.214G>A (p.Ala72Thr)	PHC2 (A72T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592597	NM_001385109.1(PHC2):c.167C>A (p.Thr56Asn)	PHC2 (T56N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245397	NM_001385109.1(PHC2):c.115C>T (p.Arg39Cys)	PHC2 (R39C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212003	NM_001385109.1(PHC2):c.64G>A (p.Gly22Arg)	PHC2 (G22R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204179	NM_001385109.1(PHC2):c.26A>G (p.His9Arg)	PHC2 (H9R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254936	NM_001385109.1(PHC2):c.17C>T (p.Pro6Leu)	PHC2 (P6L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 145637	GRCh38/hg38 1p35.1(chr1:33411353-33916406)x3	CSMD2, CSMD2-AS1 +10 more	Copy number gain	See cases	GUncertain significance
Select item 1526762	GRCh37/hg19 1p35.1-33(chr1:33285582-47891811)	A3GALT2, ADPRS +202 more	Copy number gain	not specified	GPathogenic
Select item 814067	GRCh37/hg19 1p35.2-35.1(chr1:30819875-34380419)x3	TMEM54, RBBP4 +51 more	Copy number gain	not provided	GLikely pathogenic
Select item 635767	GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	ANGPTL7, C1orf127 +783 more	Copy number gain	Intellectual disability, mild +1 more	GUncertain significance
Select item 625764	GRCh37/hg19 1p35.1-34.3(chr1:32859415-36454915)	YARS1, ZBTB8A +41 more	Copy number loss	not provided	GPathogenic
Select item 584069	NC_000001.10:g.(?_33241563)_(46663513_?)dup	GJB3, PIK3R3 +179 more	Duplication	Charcot-Marie-Tooth disease dominant intermediate C	GUncertain significance
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	BCAS2, CNTN2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	FAM76A, FAM78B +2014 more	Copy number gain	See cases	GPathogenic

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Items: 76