ClinVar for Gene (Select 1911) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3239150	NM_004426.3(PHC1):c.2999T>A (p.Val1000Asp)	PHC1 (V1000D +13 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 3211986	NM_004426.3(PHC1):c.872T>G (p.Leu291Trp)	PHC1 (L239W +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3211985	NM_004426.3(PHC1):c.871T>G (p.Leu291Val)	PHC1 (L239V +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3211984	NM_004426.3(PHC1):c.58G>A (p.Gly20Ser)	PHC1 (G20S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3211983	NM_004426.3(PHC1):c.534G>A (p.Met178Ile)	PHC1 (M141I +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3211982	NM_004426.3(PHC1):c.2722C>T (p.His908Tyr)	PHC1 (H729Y +13 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3211981	NM_004426.3(PHC1):c.2530G>C (p.Glu844Gln)	PHC1 (E665Q +13 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3211980	NM_004426.3(PHC1):c.245G>A (p.Arg82Gln)	PHC1 (R45Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3211978	NM_004426.3(PHC1):c.1892C>T (p.Pro631Leu)	PHC1 (P594L +7 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3211977	NM_004426.3(PHC1):c.1370A>C (p.Gln457Pro)	PHC1 (Q449P +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3211976	NM_004426.3(PHC1):c.1238A>G (p.Gln413Arg)	PHC1 (Q361R +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3063250	GRCh37/hg19 12p13.33-11.1(chr12:173786-34835641)x3	A2M, A2ML1 +278 more	Copy number gain	not specified	GPathogenic
Select item 3057952	NM_004426.3(PHC1):c.2253+8C>T	PHC1	Single nucleotide variant (intron variant)	PHC1-related disorder	GLikely benign
Select item 3050067	NM_004426.3(PHC1):c.2781C>T (p.Gly927=)	PHC1	Single nucleotide variant (synonymous variant +1 more)	PHC1-related disorder	GLikely benign
Select item 3044952	NM_004426.3(PHC1):c.1224G>A (p.Gln408=)	PHC1	Single nucleotide variant (synonymous variant +1 more)	PHC1-related disorder	GLikely benign
Select item 3037744	NM_004426.3(PHC1):c.219C>A (p.Val73=)	PHC1	Single nucleotide variant (synonymous variant +2 more)	PHC1-related disorder	GLikely benign
Select item 2671607	Single allele	FGD4, FGF23 +278 more	Duplication	not provided	GPathogenic
Select item 2642691	NM_004426.3(PHC1):c.1735C>G (p.Pro579Ala)	PHC1 (P527A +4 more)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 2642690	NM_004426.3(PHC1):c.1642C>T (p.Leu548=)	PHC1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2605561	NM_004426.3(PHC1):c.739G>T (p.Ala247Ser)	PHC1 (A197S +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2605064	NM_004426.3(PHC1):c.2219G>C (p.Gly740Ala)	PHC1 (G517A +13 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2595931	NM_004426.3(PHC1):c.325T>C (p.Ser109Pro)	PHC1 (S72P +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2582902	NM_004426.3(PHC1):c.1302G>A (p.Gln434=)	PHC1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2550294	NM_004426.3(PHC1):c.299A>G (p.Gln100Arg)	PHC1 (Q63R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2548464	NM_004426.3(PHC1):c.2078C>T (p.Thr693Ile)	PHC1 (T512I +13 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2547219	NM_004426.3(PHC1):c.13A>C (p.Ser5Arg)	PHC1 (S5R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2544853	NM_004426.3(PHC1):c.367C>T (p.Pro123Ser)	PHC1 (P86S +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2522271	NM_004426.3(PHC1):c.1290A>T (p.Gln430His)	PHC1 (Q378H +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2520226	NM_004426.3(PHC1):c.2546A>G (p.Asn849Ser)	PHC1 (N620S +13 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2512773	NM_004426.3(PHC1):c.812G>C (p.Ser271Thr)	PHC1 (S263T +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2498544	NM_004426.3(PHC1):c.1399C>A (p.Gln467Lys)	PHC1 (Q415K +4 more)	Single nucleotide variant (missense variant +2 more)	not provided	GBenign
Select item 2486302	NM_004426.3(PHC1):c.621C>A (p.Asn207Lys)	PHC1 (N199K +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2475581	NM_004426.3(PHC1):c.2325G>C (p.Glu775Asp)	PHC1 (E588D +13 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2459761	NM_004426.3(PHC1):c.2027A>G (p.Lys676Arg)	PHC1 (K447R +13 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2458854	NM_004426.3(PHC1):c.1280A>T (p.Gln427Leu)	PHC1 (Q375L +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2445417	GRCh37/hg19 12p13.33-11.1(chr12:176047-34179852)x4	AKAP3, ETFRF1 +278 more	Copy number gain	Pallister-Killian syndrome	GPathogenic
Select item 2356804	NM_004426.3(PHC1):c.1375G>T (p.Val459Phe)	PHC1 (V457F +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350088	NM_004426.3(PHC1):c.1389G>C (p.Gln463His)	PHC1 (Q411H +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346049	NM_004426.3(PHC1):c.1520C>T (p.Pro507Leu)	PHC1 (P455L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335460	NM_004426.3(PHC1):c.1552G>C (p.Ala518Pro)	PHC1 (A481P +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327554	NM_004426.3(PHC1):c.62G>C (p.Ser21Thr)	PHC1 (S21T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317213	NM_004426.3(PHC1):c.1064G>A (p.Arg355Gln)	PHC1 (R303Q +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317119	NM_004426.3(PHC1):c.2840A>T (p.Glu947Val)	PHC1 (E760V +13 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315303	NM_004426.3(PHC1):c.1420C>A (p.Gln474Lys)	PHC1 (Q474K +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306861	NM_004426.3(PHC1):c.1011G>T (p.Lys337Asn)	PHC1 (K287N +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298852	NM_004426.3(PHC1):c.2986G>A (p.Ala996Thr)	PHC1 (A773T +13 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296058	NM_004426.3(PHC1):c.284A>C (p.Gln95Pro)	PHC1 (Q95P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285759	NM_004426.3(PHC1):c.385A>G (p.Thr129Ala)	PHC1 (T129A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282585	NM_004426.3(PHC1):c.2560C>T (p.Arg854Cys)	PHC1 (R675C +13 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278469	NM_004426.3(PHC1):c.2605A>G (p.Lys869Glu)	PHC1 (K688E +13 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274050	NM_004426.3(PHC1):c.1316A>C (p.Gln439Pro)	PHC1 (Q431P +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265564	NM_004426.3(PHC1):c.1229G>A (p.Arg410Gln)	PHC1 (R358Q +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255093	NM_004426.3(PHC1):c.1324G>A (p.Ala442Thr)	PHC1 (A440T +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243803	NM_004426.3(PHC1):c.2513A>C (p.Lys838Thr)	PHC1 (K691T +13 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224158	NM_004426.3(PHC1):c.2567G>A (p.Arg856His)	PHC1 (R856H +13 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223910	NM_004426.3(PHC1):c.2165C>T (p.Ser722Leu)	PHC1 (S493L +13 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223312	NM_004426.3(PHC1):c.1766T>G (p.Leu589Trp)	PHC1 (L464W +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223034	NM_004426.3(PHC1):c.2309C>T (p.Pro770Leu)	PHC1 (P733L +13 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210248	NM_004426.3(PHC1):c.1417G>A (p.Val473Ile)	PHC1 (V421I +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207053	NM_004426.3(PHC1):c.1823G>A (p.Gly608Glu)	PHC1 (G467E +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1807971	GRCh37/hg19 12p13.31(chr12:8781515-9605163)x4	A2M, A2ML1 +6 more	Copy number gain	not provided	GUncertain significance
Select item 1527672	GRCh37/hg19 12p13.33-q11(chr12:173786-37869301)	C3AR1, CACNA1C +278 more	Copy number gain	not specified	GPathogenic
Select item 1527671	GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)	A2M, A2ML1 +278 more	Copy number gain	not specified	GPathogenic
Select item 1527669	GRCh37/hg19 12p13.33-12.1(chr12:173786-25286865)	A2ML1, ABCC9 +235 more	Copy number gain	not specified	GPathogenic
Select item 1337745	NM_004426.3(PHC1):c.612+9C>T	PHC1	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 1337181	NM_004426.3(PHC1):c.1845T>G (p.Val615=)	PHC1	Single nucleotide variant (synonymous variant)	not specified	GBenign
Select item 1336643	NM_004426.3(PHC1):c.101G>A (p.Arg34Gln)	PHC1 (R34Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1336331	NM_004426.3(PHC1):c.2710G>T (p.Val904Leu)	PHC1 (V904L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1332797	NM_004426.3(PHC1):c.100C>T (p.Arg34Ter)	PHC1 (R34*)	Single nucleotide variant (nonsense)	Microcephaly 11, primary, autosomal recessive	GPathogenic
Select item 1290013	NM_004426.3(PHC1):c.2077A>G (p.Thr693Ala)	PHC1 (T693A)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1289958	NM_004426.3(PHC1):c.2368+32A>T	PHC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1289518	NM_004426.3(PHC1):c.2041+75A>T	PHC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1288219	NM_004426.3(PHC1):c.1106-60G>A	PHC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1282841	NM_004426.3(PHC1):c.2628+164G>A	PHC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1280679	NM_004426.3(PHC1):c.613-176A>G	PHC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1275406	NM_004426.3(PHC1):c.2860+236C>T	PHC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1272832	NM_004426.3(PHC1):c.115-190C>T	PHC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1271948	NM_004426.3(PHC1):c.93T>A (p.Leu31=)	PHC1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1271584	NM_004426.3(PHC1):c.1986G>A (p.Lys662=)	PHC1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1270054	NM_004426.3(PHC1):c.2253+7G>A	PHC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1260582	NM_004426.3(PHC1):c.613-274C>T	PHC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1259124	NM_004426.3(PHC1):c.2861-314G>A	PHC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1252581	NM_004426.3(PHC1):c.369C>T (p.Pro123=)	PHC1	Single nucleotide variant (synonymous variant)	Microcephaly 11, primary, autosomal recessive +1 more	GBenign
Select item 1247398	NM_004426.3(PHC1):c.2860+12C>T	PHC1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1244532	NM_004426.3(PHC1):c.2860+203G>A	PHC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1244482	NM_004426.3(PHC1):c.1894-221A>G	PHC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1238831	NM_004426.3(PHC1):c.1106-228G>A	PHC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1237271	NM_004426.3(PHC1):c.2629-127G>A	PHC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1235278	NM_004426.3(PHC1):c.457-215G>T	PHC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1231103	NM_004426.3(PHC1):c.*243C>T	PHC1	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1227373	NM_004426.3(PHC1):c.2369-180A>C	PHC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1178147	NM_004426.3(PHC1):c.114+191T>C	PHC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1175399	NM_004426.3(PHC1):c.2732G>A (p.Arg911His)	PHC1 (R911H)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1031420	NM_004426.3(PHC1):c.71C>T (p.Pro24Leu)	PHC1 (P24L)	Single nucleotide variant (missense variant)	Microcephaly 11, primary, autosomal recessive	GUncertain significance
Select item 1031419	NM_004426.3(PHC1):c.1777A>T (p.Met593Leu)	PHC1 (M593L)	Single nucleotide variant (missense variant)	Microcephaly 11, primary, autosomal recessive	GUncertain significance
Select item 1013006	NM_004426.3(PHC1):c.2100C>G (p.Ala700=)	PHC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 815493	GRCh37/hg19 12p13.33-q11(chr12:274676-37869301)x4	ART4, DYRK4 +278 more	Copy number gain	not provided	GPathogenic
Select item 688765	GRCh37/hg19 12p13.31(chr12:8966269-9289695)x3	A2M, A2ML1 +3 more	Copy number gain	not provided	GUncertain significance
Select item 686501	GRCh37/hg19 12p13.33-11.1(chr12:173786-34496628)x3	CLEC1B, CLEC2A +278 more	Copy number gain	not provided	GPathogenic
Select item 625809	GRCh37/hg19 12p13.33-12.3(chr12:189216-15001420)	A2M, A2ML1 +193 more	Copy number gain	not provided	GPathogenic

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