C4BPB[gene] - ClinVar

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Items: 56

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58112	GRCh38/hg38 1q31.1-42.11(chr1:187143981-224299417)x3	PIK3C2B, PKP1 +1147 more	Copy number gain	See cases	GPathogenic
Select item 545154	NC_000001.11:g.(?_204033173)_(208209798_?)del	AVPR1B, AVPR1B-DT +278 more	Deletion	Autism	GLikely pathogenic
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 2343489	NM_001017365.3(C4BPB):c.29T>C (p.Met10Thr)	C4BPB (M10T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549441	NM_001017365.3(C4BPB):c.35C>T (p.Ala12Val)	C4BPB (A12V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2602432	NM_001017365.3(C4BPB):c.56A>G (p.Asp19Gly)	C4BPB (D19G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1274277	NM_001017365.3(C4BPB):c.58+46T>G	C4BPB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1286738	NM_001017365.3(C4BPB):c.59-114C>T	C4BPB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 741452	NM_001017365.3(C4BPB):c.66C>T (p.His22=)	C4BPB	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 780296	NM_001017365.3(C4BPB):c.105C>T (p.Val35=)	C4BPB	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2518691	NM_001017365.3(C4BPB):c.142G>C (p.Val48Leu)	C4BPB (V47L +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3136021	NM_001017365.3(C4BPB):c.229C>T (p.Arg77Cys)	C4BPB (R77C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 402446	NM_001017365.3(C4BPB):c.232+3A>G	C4BPB	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 3136022	NM_001017365.3(C4BPB):c.311C>T (p.Thr104Met)	C4BPB (T104M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518420	NM_001017365.3(C4BPB):c.352C>T (p.Arg118Trp)	C4BPB (R118W +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2639869	NM_001017365.3(C4BPB):c.409+8C>A	C4BPB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1258240	NM_001017365.3(C4BPB):c.409+265G>A	C4BPB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 402447	NM_001017365.3(C4BPB):c.410-12C>T	C4BPB	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 402448	NM_001017365.3(C4BPB):c.410-9T>C	C4BPB	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 402449	NM_001017365.3(C4BPB):c.462C>T (p.Asn154=)	C4BPB	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 3035845	NM_001017365.3(C4BPB):c.504-21_504-3dup	C4BPB	Duplication (intron variant)	C4BPB-related condition	GLikely benign
Select item 3051596	NM_001017365.3(C4BPB):c.520G>A (p.Val174Met)	C4BPB (V173M +1 more)	Single nucleotide variant (missense variant)	C4BPB-related condition	GLikely benign
Select item 748377	NM_001017365.3(C4BPB):c.582C>T (p.Ile194=)	C4BPB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3136023	NM_001017365.3(C4BPB):c.585G>C (p.Gln195His)	C4BPB (Q195H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462578	NM_001017365.3(C4BPB):c.596A>C (p.Lys199Thr)	C4BPB (K199T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1179254	NM_001017365.3(C4BPB):c.618+253T>G	C4BPB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2222249	NM_001017365.3(C4BPB):c.659A>C (p.Glu220Ala)	C4BPB (E220A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257647	NM_001017365.3(C4BPB):c.666T>G (p.Phe222Leu)	C4BPB (F222L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588343	NM_001017365.3(C4BPB):c.691A>G (p.Met231Val)	C4BPB (M230V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1288725	NC_000001.11:g.207100054_207100065del	C4BPB	Deletion	not provided	GBenign
Select item 1286682	NC_000001.11:g.207100054_207100055del	C4BPB	Deletion	not provided	GBenign
Select item 1229135	NC_000001.11:g.207100054_207100067del	C4BPB	Deletion	not provided	GBenign
Select item 1279234	NC_000001.11:g.207100056GT[14]	C4BPB	Microsatellite	not provided	GBenign
Select item 1276137	NC_000001.11:g.207100056GT[16]	C4BPB	Microsatellite	not provided	GBenign
Select item 1253475	NC_000001.11:g.207100056GT[17]	C4BPB	Microsatellite	not provided	GBenign
Select item 1222733	NC_000001.11:g.207100056GT[18]	C4BPB	Microsatellite	not provided	GBenign
Select item 1183016	NC_000001.11:g.207100080G>A	C4BPB	Single nucleotide variant	not provided	GBenign
Select item 1225286	NC_000001.11:g.207100094_207100103del	C4BPB	Deletion	not provided	GBenign
Select item 1228604	NC_000001.11:g.207100094_207100099del	C4BPB	Deletion	not provided	GBenign
Select item 1227988	NC_000001.11:g.207100090G>A	C4BPB	Single nucleotide variant	not provided	GBenign
Select item 1228764	NC_000001.11:g.207100096GT[11]	C4BPB	Microsatellite	not provided	GBenign
Select item 1247682	NC_000001.11:g.207100147G>A	C4BPB	Single nucleotide variant	not provided	GBenign
Select item 2422293	NC_000001.10:g.(?_200522516)_(208391267_?)dup	C4BPA, FMOD +110 more	Duplication	not provided	GUncertain significance
Select item 1809264	GRCh37/hg19 1q25.3-32.3(chr1:181453460-213107248)x3	IGFN1, IKBKE +211 more	Copy number gain	not provided	GPathogenic
Select item 1708464	GRCh37/hg19 1q31.3-44(chr1:197867914-249224684)x3	ABCB10, ACBD3 +381 more	Copy number gain	See cases	GPathogenic
Select item 1409891	NC_000001.10:g.(?_206941981)_(208391267_?)dup	FCMR, IL10 +19 more	Duplication	Inflammatory bowel disease +1 more	GUncertain significance
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	CA14, CACNA1E +956 more	Duplication	Gastrointestinal stromal tumor +2 more	GUncertain significance
Select item 972964	GRCh37/hg19 1q31.3-32.2(chr1:194356425-210988710)x3	CSRP1, PPFIA4 +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 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	CAPN9, CATSPERE +433 more	Copy number gain	not provided	GPathogenic
Select item 523270	GRCh37/hg19 1q32.1-32.3(chr1:204682513-212815646)	EIF2D, LPGAT1 +75 more	Copy number loss	Global developmental delay +2 more	GPathogenic
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
Select item 394081	GRCh37/hg19 1q31.3-44(chr1:195483439-249213000)x3	EGLN1, EIF2D +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

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Items: 56