1911[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 619591	NC_000012.12:g.(1_3750000)_(5250000_9000000)del	GAPDH, GAU1 +477 more	Deletion	Tumoral calcinosis, hyperphosphatemic, familial, 1	Gnot provided
Select item 151004	GRCh38/hg38 12p13.33-11.1(chr12:54427-34608071)x4	TAS2R9, TEAD4 +1258 more	Copy number gain	See cases	GPathogenic
Select item 153962	GRCh38/hg38 12p13.33-11.1(chr12:64620-34682902)x4	CLEC12A, CLEC12A-AS1 +1258 more	Copy number gain	See cases	GPathogenic
Select item 59794	GRCh38/hg38 12p13.33-11.1(chr12:77187-34380176)x3	LOC126861410, LOC126861411 +1258 more	Copy number gain	See cases	GPathogenic
Select item 59795	GRCh38/hg38 12p13.33-12.1(chr12:80412-25470329)x3	A2M, A2M-AS1 +1009 more	Copy number gain	See cases	GPathogenic
Select item 147419	GRCh38/hg38 12p13.33-11.1(chr12:121255-34603274)x3	LOC130007230, LOC130007231 +1257 more	Copy number gain	See cases	GPathogenic
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	LOC130008916, LOC130008917 +4836 more	Copy number gain	See cases	GPathogenic
Select item 150158	GRCh38/hg38 12p13.33-11.1(chr12:121271-34603261)x3	LOC126861494, LOC126861495 +1257 more	Copy number gain	See cases	GPathogenic
Select item 59799	GRCh38/hg38 12p13.33-11.1(chr12:212976-33926913)x4	CACNA1C-AS2, CACNA1C-AS4 +1242 more	Copy number gain	See cases	GPathogenic
Select item 153563	GRCh38/hg38 12p13.33-12.2(chr12:1258274-20657577)x3	A2M, A2M-AS1 +853 more	Copy number gain	See cases	GPathogenic
Select item 148626	GRCh38/hg38 12p13.33-12.3(chr12:2871741-14987348)x3	LOC130007190, LOC130007191 +698 more	Copy number gain	See cases	GPathogenic
Select item 152932	GRCh38/hg38 12p13.31(chr12:8839030-9134304)x3	A2M, A2M-AS1 +12 more	Copy number gain	See cases	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 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 2327554	NM_004426.3(PHC1):c.62G>C (p.Ser21Thr)	PHC1 (S21T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 1271948	NM_004426.3(PHC1):c.93T>A (p.Leu31=)	PHC1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
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 1336643	NM_004426.3(PHC1):c.101G>A (p.Arg34Gln)	PHC1 (R34Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1178147	NM_004426.3(PHC1):c.114+191T>C	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 436300	NM_004426.3(PHC1):c.162C>T (p.His54=)	PHC1	Single nucleotide variant (synonymous variant)	not specified	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 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 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 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 436301	NM_004426.3(PHC1):c.306+7A>G	PHC1	Single nucleotide variant (intron variant)	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 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 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 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 1235278	NM_004426.3(PHC1):c.457-215G>T	PHC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 211898	NM_004426.3(PHC1):c.486C>T (p.Asn162=)	PHC1	Single nucleotide variant (synonymous variant)	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 1337745	NM_004426.3(PHC1):c.612+9C>T	PHC1	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 1260582	NM_004426.3(PHC1):c.613-274C>T	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 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 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 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 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 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 211899	NM_004426.3(PHC1):c.918A>G (p.Arg306=)	PHC1	Single nucleotide variant (synonymous variant)	Microcephaly 11, primary, autosomal recessive +2 more	GBenign
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 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 1238831	NM_004426.3(PHC1):c.1106-228G>A	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 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 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 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 376844	NM_004426.3(PHC1):c.1272GCA[4] (p.Gln438_Gln439del)	PHC1	Microsatellite (inframe_deletion)	not provided	GBenign
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 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 2582902	NM_004426.3(PHC1):c.1302G>A (p.Gln434=)	PHC1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 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 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 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 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 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 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 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 436307	NM_004426.3(PHC1):c.1536C>T (p.Ala512=)	PHC1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
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 235403	NM_004426.3(PHC1):c.1598G>A (p.Arg533Gln)	PHC1 (R533Q)	Single nucleotide variant (missense variant)	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 218637	NM_004426.3(PHC1):c.1666C>T (p.Arg556Trp)	PHC1 (R556W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 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 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 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 1337181	NM_004426.3(PHC1):c.1845T>G (p.Val615=)	PHC1	Single nucleotide variant (synonymous variant)	not specified	GBenign
Select item 218638	NM_004426.3(PHC1):c.1885C>A (p.His629Asn)	PHC1 (H629N)	Single nucleotide variant (missense variant)	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 1244482	NM_004426.3(PHC1):c.1894-221A>G	PHC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1271584	NM_004426.3(PHC1):c.1986G>A (p.Lys662=)	PHC1	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 1289518	NM_004426.3(PHC1):c.2041+75A>T	PHC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 493109	NM_004426.3(PHC1):c.2051A>C (p.Glu684Ala)	PHC1 (E684A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 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 1013006	NM_004426.3(PHC1):c.2100C>G (p.Ala700=)	PHC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 436302	NM_004426.3(PHC1):c.2110G>A (p.Ala704Thr)	PHC1 (A704T)	Single nucleotide variant (missense variant)	not provided +2 more	GLikely benign
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 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 436303	NM_004426.3(PHC1):c.2238A>G (p.Gly746=)	PHC1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1270054	NM_004426.3(PHC1):c.2253+7G>A	PHC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3057952	NM_004426.3(PHC1):c.2253+8C>T	PHC1	Single nucleotide variant (intron variant)	PHC1-related disorder	GLikely benign
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 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 1289958	NM_004426.3(PHC1):c.2368+32A>T	PHC1	Single nucleotide variant (intron 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 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 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 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 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 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 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 211897	NM_004426.3(PHC1):c.2626C>T (p.Arg876Trp)	PHC1 (R876W)	Single nucleotide variant (missense variant)	Microcephaly 11, primary, autosomal recessive +1 more	GUncertain significance

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