8960[HGNC] - ClinVar

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Items: 85

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155448	GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3	LOC129931453, LOC129931454 +1585 more	Copy number gain	See cases	GPathogenic
Select item 58109	GRCh38/hg38 1q23.1-25.1(chr1:157747246-176021247)x3	ADAMTS4, ADCY10 +775 more	Copy number gain	See cases	GPathogenic
Select item 60042	GRCh38/hg38 1q23.3-25.1(chr1:161740907-173965154)x1	ADCY10, ALDH9A1 +406 more	Copy number loss	See cases	GPathogenic
Select item 155225	GRCh38/hg38 1q23.3-25.1(chr1:163382523-175877022)x1	LOC129388624, LOC129388625 +407 more	Copy number loss	See cases	GPathogenic
Select item 58111	GRCh38/hg38 1q23.3-25.2(chr1:164922655-180061589)x3	FAM163A, FAM20B +482 more	Copy number gain	See cases	GPathogenic
Select item 60045	GRCh38/hg38 1q24.1-25.1(chr1:166762832-175327423)x1	ADCY10, ANKRD45 +332 more	Copy number loss	See cases	GPathogenic
Select item 60046	GRCh38/hg38 1q24.2-25.1(chr1:168314822-175299299)x1	ANKRD45, ATP1B1 +232 more	Copy number loss	See cases	GPathogenic
Select item 148038	GRCh38/hg38 1q24.2-25.2(chr1:169218236-178075834)x1	ANKRD45, ASTN1 +239 more	Copy number loss	See cases	GPathogenic
Select item 155621	GRCh38/hg38 1q24.2-31.1(chr1:170036068-187555148)x1	MYOC, MYOCOS +540 more	Copy number loss	See cases	GPathogenic
Select item 154301	GRCh38/hg38 1q24.3-31.2(chr1:170929720-191065409)x1	LOC129932082, LOC129932083 +561 more	Copy number loss	See cases	GPathogenic
Select item 145519	GRCh38/hg38 1q24.3-31.1(chr1:171039975-186875957)x3	ABL2, ACBD6 +513 more	Copy number gain	See cases	GPathogenic
Select item 3254725	NM_153747.2(PIGC):c.881G>T (p.Arg294Met)	C1orf105, PIGC (R294M)	Single nucleotide variant (missense variant +1 more)	Glycosylphosphatidylinositol biosynthesis defect 16	GUncertain significance
Select item 2357809	NM_153747.2(PIGC):c.865A>C (p.Lys289Gln)	C1orf105, PIGC (K289Q)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2639563	NM_153747.2(PIGC):c.861A>G (p.Glu287=)	PIGC, C1orf105	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1802584	NM_153747.2(PIGC):c.859G>T (p.Glu287Ter)	C1orf105, PIGC (E287*)	Single nucleotide variant (nonsense +1 more)	Glycosylphosphatidylinositol biosynthesis defect 16	GPathogenic
Select item 2483690	NM_153747.2(PIGC):c.850G>A (p.Asp284Asn)	C1orf105, PIGC (D284N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1033525	NM_153747.2(PIGC):c.812G>A (p.Arg271His)	C1orf105, PIGC (R271H)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1327021	NM_153747.2(PIGC):c.796C>T (p.Pro266Ser)	C1orf105, PIGC (P266S)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign
Select item 1033524	NM_153747.2(PIGC):c.739A>G (p.Ser247Gly)	C1orf105, PIGC (S247G)	Single nucleotide variant (missense variant +1 more)	Glycosylphosphatidylinositol biosynthesis defect 16	GUncertain significance
Select item 3306476	NM_153747.2(PIGC):c.677G>A (p.Arg226Gln)	C1orf105, PIGC (R226Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 769251	NM_153747.2(PIGC):c.676C>T (p.Arg226Trp)	C1orf105, PIGC (R226W)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign/Likely benign
Select item 190451	NM_153747.2(PIGC):c.659T>C (p.Leu220Pro)	C1orf105, PIGC (L220P)	Single nucleotide variant (missense variant +1 more)	Non-immune hydrops fetalis +1 more	GConflicting classifications of pathogenicity
Select item 1965533	NM_153747.2(PIGC):c.644T>C (p.Met215Thr)	C1orf105, PIGC (M215T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3212781	NM_153747.2(PIGC):c.635T>G (p.Leu212Arg)	C1orf105, PIGC (L212R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 471154	NM_153747.2(PIGC):c.635T>C (p.Leu212Pro)	C1orf105, PIGC (L212P)	Single nucleotide variant (missense variant +1 more)	Glycosylphosphatidylinositol biosynthesis defect 16	GLikely pathogenic
Select item 3306473	NM_153747.2(PIGC):c.593A>G (p.His198Arg)	C1orf105, PIGC (H198R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2176751	NM_153747.2(PIGC):c.584G>A (p.Arg195Gln)	C1orf105, PIGC (R195Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1402737	NM_153747.2(PIGC):c.574C>T (p.Arg192Cys)	C1orf105, PIGC (R192C)	Single nucleotide variant (missense variant +1 more)	Glycosylphosphatidylinositol biosynthesis defect 16 +1 more	GUncertain significance
Select item 471151	NM_153747.2(PIGC):c.566T>G (p.Leu189Trp)	C1orf105, PIGC (L189W)	Single nucleotide variant (missense variant +1 more)	Glycosylphosphatidylinositol biosynthesis defect 16	GLikely pathogenic
Select item 2063404	NM_153747.2(PIGC):c.557C>G (p.Ser186Cys)	C1orf105, PIGC (S186C)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 2032783	NM_153747.2(PIGC):c.533C>T (p.Ser178Phe)	C1orf105, PIGC (S178F)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2722261	NM_153747.2(PIGC):c.531A>G (p.Leu177=)	C1orf105, PIGC	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1924079	NM_153747.2(PIGC):c.530T>C (p.Leu177Pro)	C1orf105, PIGC (L177P)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 767727	NM_153747.2(PIGC):c.498T>C (p.Tyr166=)	C1orf105, PIGC	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3254687	NM_153747.2(PIGC):c.484A>T (p.Ile162Phe)	C1orf105, PIGC (I162F)	Single nucleotide variant (missense variant +1 more)	Glycosylphosphatidylinositol biosynthesis defect 16	GUncertain significance
Select item 1511713	NM_153747.2(PIGC):c.445A>G (p.Ile149Val)	C1orf105, PIGC (I149V)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 2197701	NM_153747.2(PIGC):c.411G>A (p.Leu137=)	C1orf105, PIGC	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1299807	NM_153747.2(PIGC):c.393T>C (p.Tyr131=)	C1orf105, PIGC	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1029616	NM_153747.2(PIGC):c.389C>T (p.Thr130Ile)	C1orf105, PIGC (T130I)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2639564	NM_153747.2(PIGC):c.336T>C (p.Ser112=)	C1orf105, PIGC	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3212780	NM_153747.2(PIGC):c.330G>T (p.Lys110Asn)	C1orf105, PIGC (K110N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2278798	NM_153747.2(PIGC):c.325C>T (p.Arg109Trp)	C1orf105, PIGC (R109W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1029615	NM_153747.2(PIGC):c.308T>C (p.Ile103Thr)	PIGC, C1orf105 (I103T)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1704034	NM_153747.2(PIGC):c.286G>A (p.Gly96Arg)	C1orf105, PIGC (G96R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2341208	NM_153747.2(PIGC):c.275C>A (p.Ser92Tyr)	C1orf105, PIGC (S92Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 595495	NM_153747.2(PIGC):c.267T>C (p.Gly89=)	C1orf105, PIGC	Single nucleotide variant (synonymous variant +1 more)	Glycosylphosphatidylinositol biosynthesis defect 16 +2 more	GBenign
Select item 1388527	NM_153747.2(PIGC):c.266G>A (p.Gly89Asp)	C1orf105, PIGC (G89D)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1492240	NM_153747.2(PIGC):c.256T>A (p.Leu86Ile)	C1orf105, PIGC (L86I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2076874	NM_153747.2(PIGC):c.247C>T (p.His83Tyr)	C1orf105, PIGC (H83Y)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2169336	NM_153747.2(PIGC):c.225G>A (p.Met75Ile)	C1orf105, PIGC (M75I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2434837	NM_153747.2(PIGC):c.223A>G (p.Met75Val)	C1orf105, PIGC (M75V)	Single nucleotide variant (missense variant +1 more)	Glycosylphosphatidylinositol biosynthesis defect 16	GUncertain significance
Select item 982966	NM_153747.2(PIGC):c.138C>A (p.Tyr46Ter)	C1orf105, PIGC (Y46*)	Single nucleotide variant (nonsense +1 more)	Glycosylphosphatidylinositol biosynthesis defect 16	GUncertain significance
Select item 2037413	NM_153747.2(PIGC):c.126T>C (p.His42=)	C1orf105, PIGC	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1438724	NM_153747.2(PIGC):c.119A>G (p.Asn40Ser)	PIGC, C1orf105 (N40S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1414329	NM_153747.2(PIGC):c.113G>A (p.Arg38Gln)	C1orf105, PIGC (R38Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3306475	NM_153747.2(PIGC):c.112C>T (p.Arg38Trp)	C1orf105, PIGC (R38W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2721122	NM_153747.2(PIGC):c.94C>A (p.Arg32=)	C1orf105, PIGC	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2404624	NM_153747.2(PIGC):c.91C>T (p.Arg31Trp)	C1orf105, PIGC (R31W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2537062	NM_153747.2(PIGC):c.83A>G (p.Tyr28Cys)	C1orf105, PIGC (Y28C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2235607	NM_153747.2(PIGC):c.70T>C (p.Phe24Leu)	C1orf105, PIGC (F24L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 471153	NM_153747.2(PIGC):c.61C>T (p.Arg21Ter)	C1orf105, PIGC (R21*)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2125690	NM_153747.2(PIGC):c.36C>G (p.Val12=)	C1orf105, PIGC	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1930939	NM_153747.2(PIGC):c.16G>A (p.Val6Met)	C1orf105, PIGC (V6M)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 3306477	NM_153747.2(PIGC):c.13C>A (p.Pro5Thr)	C1orf105, PIGC (P5T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 917868	NM_153747.2(PIGC):c.12_13insTTGTGACTAACA (p.Pro5delinsLeuTer)	C1orf105, PIGC	Insertion (nonsense +1 more)	Glycosylphosphatidylinositol biosynthesis defect 16 +1 more	GPathogenic/Likely pathogenic
Select item 3248010	NC_000001.10:g.(?_171604992)_(173962123_?)dup	ANKRD45, C1orf105 +22 more	Duplication	not provided	GUncertain significance
Select item 3242279	GRCh37/hg19 1q24.2-25.1(chr1:170777501-173113232)x1	C1orf105, DNM3 +17 more	Copy number loss	not provided	GLikely pathogenic
Select item 3063521	GRCh37/hg19 1q24.2-31.1(chr1:167994071-187711459)x1	ABL2, ACBD6 +123 more	Copy number loss	not specified	GPathogenic
Select item 2685754	GRCh37/hg19 1q23.3-25.1(chr1:164571371-175708060)x1	ADCY10, ALDH9A1 +81 more	Copy number loss	not provided	GPathogenic
Select item 2424509	NC_000001.10:g.(?_172410869)_(172411762_?)dup	C1orf105, PIGC	Duplication	not provided	GUncertain significance
Select item 1808068	GRCh37/hg19 1q24.3(chr1:172399416-172468762)x1	C1orf105, PIGC	Copy number loss	not provided	GUncertain significance
Select item 1527404	GRCh37/hg19 1q24.3-31.3(chr1:171990029-195086758)	BRINP2, BRINP3 +101 more	Copy number loss	not specified	GPathogenic
Select item 1527393	GRCh37/hg19 1q24.3-25.1(chr1:171881608-175899893)	ANKRD45, C1orf105 +26 more	Copy number loss	not specified	GPathogenic
Select item 1527381	GRCh37/hg19 1q24.2-25.3(chr1:169873155-181823980)	METTL13, MIR199A2 +68 more	Copy number loss	not specified	GPathogenic
Select item 1409896	NC_000001.10:g.(?_171605065)_(173962123_?)dup	ANKRD45, C1orf105 +22 more	Duplication	Autoimmune lymphoproliferative syndrome type 1	GUncertain significance
Select item 1367461	NC_000001.10:g.(?_171605065)_(173962123_?)del	GAS5, KLHL20 +22 more	Deletion	Autoimmune lymphoproliferative syndrome type 1	GPathogenic
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	FCGR3A, LCE3C +956 more	Duplication	Parathyroid carcinoma +2 more	GUncertain significance
Select item 814137	GRCh37/hg19 1q24.2-25.1(chr1:167430471-174635618)x1	METTL13, METTL18 +60 more	Copy number loss	not provided	GPathogenic
Select item 686908	GRCh37/hg19 1q24.3(chr1:172362787-172508698)x3	C1orf105, DNM3 +2 more	Copy number gain	not provided	GUncertain significance
Select item 625771	GRCh37/hg19 1q23.2-25.1(chr1:160369890-175796325)	ADCY10, ALDH9A1 +137 more	Copy number loss	not provided	GPathogenic
Select item 625613	GRCh37/hg19 1q24.2-25.3(chr1:169423492-180367623)	ABL2, ACBD6 +70 more	Copy number gain	not provided	GPathogenic
Select item 558766	Single allele	ANKRD45, ATP1B1 +51 more	Deletion	1q24q25 microdeletion syndrome	GPathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 395654	GRCh37/hg19 1q23.3-25.3(chr1:161676893-184071723)x1	SUCO, TADA1 +147 more	Copy number loss	See cases	GPathogenic

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Items: 85