ClinVar for Gene (Select 722) - ClinVar

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Links from Gene

Items: 78

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3347684	NM_000715.4(C4BPA):c.372dup (p.Glu125fs)	C4BPA (E125fs)	Duplication (frameshift variant)	C4BPA-related disorder	GUncertain significance
Select item 3345967	NM_000715.4(C4BPA):c.182C>T (p.Pro61Leu)	C4BPA (P61L)	Single nucleotide variant (missense variant)	C4BPA-related disorder	GUncertain significance
Select item 3262519	NM_000715.4(C4BPA):c.152G>T (p.Gly51Val)	C4BPA (G51V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3262518	NM_000715.4(C4BPA):c.1144C>T (p.Arg382Cys)	C4BPA (R382C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3248093	NC_000001.10:g.(?_190829412)_(216061974_?)del	RPS6KC1, SERTAD4 +185 more	Deletion	not provided	GPathogenic
Select item 3136020	NM_000715.4(C4BPA):c.957G>C (p.Glu319Asp)	C4BPA (E319D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136019	NM_000715.4(C4BPA):c.946C>T (p.Pro316Ser)	C4BPA (P316S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136018	NM_000715.4(C4BPA):c.787A>G (p.Ile263Val)	C4BPA (I263V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136017	NM_000715.4(C4BPA):c.733T>G (p.Ser245Ala)	C4BPA (S245A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136016	NM_000715.4(C4BPA):c.605G>T (p.Ser202Ile)	C4BPA (S202I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136015	NM_000715.4(C4BPA):c.1571C>A (p.Thr524Asn)	C4BPA (T524N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136014	NM_000715.4(C4BPA):c.152G>A (p.Gly51Asp)	C4BPA (G51D)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3136013	NM_000715.4(C4BPA):c.1468G>A (p.Val490Met)	C4BPA (V490M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136012	NM_000715.4(C4BPA):c.1143T>G (p.Ser381Arg)	C4BPA (S381R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3067387	NM_000715.4(C4BPA):c.1629C>T (p.Pro543=)	C4BPA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3052147	NM_000715.4(C4BPA):c.1154A>G (p.Asn385Ser)	C4BPA (N385S)	Single nucleotide variant (missense variant)	C4BPA-related disorder	GUncertain significance
Select item 3048307	NM_000715.4(C4BPA):c.1291A>G (p.Lys431Glu)	C4BPA (K431E)	Single nucleotide variant (missense variant)	C4BPA-related disorder	GUncertain significance
Select item 3030960	NM_000715.4(C4BPA):c.1066C>T (p.Pro356Ser)	C4BPA (P356S)	Single nucleotide variant (missense variant)	C4BPA-related disorder	GUncertain significance
Select item 2632437	NM_000715.4(C4BPA):c.640T>A (p.Ser214Thr)	C4BPA (S214T)	Single nucleotide variant (missense variant)	C4BPA-related disorder	GUncertain significance
Select item 2531950	NM_000715.4(C4BPA):c.1733T>C (p.Ile578Thr)	C4BPA (I578T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481277	NM_000715.4(C4BPA):c.1777T>G (p.Leu593Val)	C4BPA (L593V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2422293	NC_000001.10:g.(?_200522516)_(208391267_?)dup	ADIPOR1, ADORA1 +110 more	Duplication	not provided	GUncertain significance
Select item 2405698	NM_000715.4(C4BPA):c.86C>T (p.Ser29Phe)	C4BPA (S29F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403118	NM_000715.4(C4BPA):c.677T>C (p.Val226Ala)	C4BPA (V226A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395882	NM_000715.4(C4BPA):c.1763C>T (p.Ala588Val)	C4BPA (A588V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376940	NM_000715.4(C4BPA):c.28G>A (p.Ala10Thr)	C4BPA (A10T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2369453	NM_000715.4(C4BPA):c.20C>T (p.Pro7Leu)	C4BPA (P7L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367001	NM_000715.4(C4BPA):c.1375A>C (p.Ile459Leu)	C4BPA (I459L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365876	NM_000715.4(C4BPA):c.1781A>G (p.Asp594Gly)	C4BPA (D594G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330083	NM_000715.4(C4BPA):c.58T>C (p.Trp20Arg)	C4BPA (W20R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316222	NM_000715.4(C4BPA):c.1144C>A (p.Arg382Ser)	C4BPA (R382S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306548	NM_000715.4(C4BPA):c.1012C>A (p.Pro338Thr)	C4BPA (P338T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294146	NM_000715.4(C4BPA):c.29C>T (p.Ala10Val)	C4BPA (A10V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285090	NM_000715.4(C4BPA):c.586G>A (p.Gly196Ser)	C4BPA (G196S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280899	NM_000715.4(C4BPA):c.227C>T (p.Thr76Ile)	C4BPA (T76I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243004	NM_000715.4(C4BPA):c.350G>A (p.Gly117Glu)	C4BPA (G117E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239894	NM_000715.4(C4BPA):c.617G>A (p.Arg206His)	C4BPA (R206H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234774	NM_000715.4(C4BPA):c.70A>G (p.Arg24Gly)	C4BPA (R24G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233194	NM_000715.4(C4BPA):c.980T>C (p.Val327Ala)	C4BPA (V327A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224656	NM_000715.4(C4BPA):c.1762G>A (p.Ala588Thr)	C4BPA (A588T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207005	NM_000715.4(C4BPA):c.1504G>A (p.Val502Ile)	C4BPA (V502I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1809264	GRCh37/hg19 1q25.3-32.3(chr1:181453460-213107248)x3	ASPM, IPO9 +211 more	Copy number gain	not provided	GPathogenic
Select item 1708464	GRCh37/hg19 1q31.3-44(chr1:197867914-249224684)x3	COA6, COG2 +381 more	Copy number gain	See cases	GPathogenic
Select item 1409891	NC_000001.10:g.(?_206941981)_(208391267_?)dup	C1orf116, C4BPA +19 more	Duplication	Immunodeficiency, common variable, 7 +1 more	GUncertain significance
Select item 1288103	NM_000715.4(C4BPA):c.428+37T>C	C4BPA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1282338	NM_000715.4(C4BPA):c.889+141T>A	C4BPA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1280369	NM_000715.4(C4BPA):c.1621-101G>C	C4BPA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1279740	NM_000715.4(C4BPA):c.1274-95A>C	C4BPA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1278073	NM_000715.4(C4BPA):c.142+245T>C	C4BPA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1276972	NM_000715.4(C4BPA):c.515-36G>C	C4BPA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1271178	NM_000715.4(C4BPA):c.889+19A>G	C4BPA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1267035	NM_000715.4(C4BPA):c.143-258C>T	C4BPA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1249174	NM_000715.4(C4BPA):c.328+226del	C4BPA	Deletion (intron variant)	not provided	GBenign
Select item 1238277	NM_000715.4(C4BPA):c.1068A>C (p.Pro356=)	C4BPA	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1234524	NM_000715.4(C4BPA):c.1274-63C>T	C4BPA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1229349	NM_000715.4(C4BPA):c.11C>A (p.Pro4Gln)	C4BPA (P4Q)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1175658	NM_000715.4(C4BPA):c.719G>A (p.Arg240His)	C4BPA (R240H)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	FCGR3A, LCE3C +956 more	Duplication	Parathyroid carcinoma +2 more	GUncertain significance
Select item 972964	GRCh37/hg19 1q31.3-32.2(chr1:194356425-210988710)x3	CD34, MDM4 +145 more	Copy number gain	not provided	Gnot provided
Select item 816482	GRCh37/hg19 1q32.1-44(chr1:204045948-249218992)x3	C1orf35, C1orf74 +320 more	Copy number gain	See cases	GPathogenic
Select item 787219	NM_000715.4(C4BPA):c.97C>G (p.Leu33Val)	C4BPA (L33V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 783303	NM_000715.4(C4BPA):c.671T>C (p.Ile224Thr)	C4BPA (I224T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 780297	NM_000715.4(C4BPA):c.10C>G (p.Pro4Ala)	C4BPA (P4A)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 775644	NM_000715.4(C4BPA):c.1454G>A (p.Arg485Gln)	C4BPA (R485Q)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 775643	NM_000715.4(C4BPA):c.179C>T (p.Ala60Val)	C4BPA (A60V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 711057	NM_000715.4(C4BPA):c.39A>G (p.Arg13=)	C4BPA	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 688022	GRCh37/hg19 1q32.1-32.3(chr1:206329070-213263817)x3	ANGEL2, ATF3 +63 more	Copy number gain	not provided	GUncertain significance
Select item 685144	GRCh37/hg19 1q25.3-44(chr1:182388773-249111240)x3	C4BPB, CACNA1S +433 more	Copy number gain	not provided	GPathogenic
Select item 545154	NC_000001.11:g.(?_204033173)_(208209798_?)del	LOC129932391, PIK3C2B +278 more	Deletion	Autism	GLikely pathogenic
Select item 523270	GRCh37/hg19 1q32.1-32.3(chr1:204682513-212815646)	CAMK1G, CD34 +75 more	Copy number loss	Global developmental delay +2 more	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 402445	NM_000715.4(C4BPA):c.899T>C (p.Ile300Thr)	C4BPA (I300T)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 402444	NM_000715.4(C4BPA):c.675T>C (p.Gly225=)	C4BPA	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 394081	GRCh37/hg19 1q31.3-44(chr1:195483439-249213000)x3	AVPR1B, B3GALNT2 +393 more	Copy number gain	See cases	GPathogenic
Select item 253654	GRCh37/hg19 1q31.3-42.13(chr1:197811907-228997888)x3	ACBD3, ADIPOR1 +242 more	Copy number gain	See cases	GPathogenic
Select item 153790	GRCh38/hg38 1q32.1-42.12(chr1:204764914-225408698)x3	LOC129388734, LOC129388735 +723 more	Copy number gain	See cases	GPathogenic
Select item 58112	GRCh38/hg38 1q31.1-42.11(chr1:187143981-224299417)x3	LOC129932539, LOC129932540 +1148 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 78