C4BPB[gene] and "single gene"[properties] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 40

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3262520	NM_001017365.3(C4BPB):c.70C>G (p.Pro24Ala)	C4BPB (P24A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 specified +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 provided +1 more	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 specified +1 more	GBenign
Select item 3035845	NM_001017365.3(C4BPB):c.504-21_504-3dup	C4BPB	Duplication (intron variant)	C4BPB-related disorder	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 disorder	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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 40