ClinVar for Gene (Select 57175) - ClinVar

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Links from Gene

Items: 87

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3311514	NM_005608.3(PTPRCAP):c.569A>G (p.Asp190Gly)	CORO1B, PTPRCAP (D190G)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3311513	NM_005608.3(PTPRCAP):c.410C>T (p.Ala137Val)	CORO1B, PTPRCAP (A137V)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3269023	NM_020441.3(CORO1B):c.836C>T (p.Thr279Ile)	CORO1B (T279I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269022	NM_020441.3(CORO1B):c.957G>A (p.Met319Ile)	CORO1B (M319I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269021	NM_020441.3(CORO1B):c.976G>A (p.Gly326Ser)	CORO1B (G326S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269020	NM_020441.3(CORO1B):c.1123G>A (p.Glu375Lys)	CORO1B (E375K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269019	NM_020441.3(CORO1B):c.1238C>T (p.Ser413Phe)	CORO1B (S413F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269017	NM_020441.3(CORO1B):c.926C>T (p.Thr309Met)	CORO1B (T309M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269016	NM_020441.3(CORO1B):c.1358T>C (p.Leu453Pro)	CORO1B (L453P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269015	NM_020441.3(CORO1B):c.1106G>C (p.Gly369Ala)	CORO1B (G369A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269014	NM_020441.3(CORO1B):c.722G>A (p.Arg241Gln)	CORO1B (R241Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269013	NM_020441.3(CORO1B):c.85A>T (p.Ile29Phe)	CORO1B (I29F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269012	NM_020441.3(CORO1B):c.1204C>T (p.Arg402Trp)	CORO1B (R402W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269011	NM_020441.3(CORO1B):c.1105G>A (p.Gly369Arg)	CORO1B (G369R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149323	NM_005608.3(PTPRCAP):c.484G>A (p.Gly162Ser)	CORO1B, PTPRCAP (G162S)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GLikely benign
Select item 3149322	NM_005608.3(PTPRCAP):c.413C>T (p.Ser138Phe)	CORO1B, PTPRCAP (S138F)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3149321	NM_005608.3(PTPRCAP):c.175C>T (p.Arg59Cys)	CORO1B, PTPRCAP (R59C)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3149320	NM_005608.3(PTPRCAP):c.164G>A (p.Arg55His)	CORO1B, PTPRCAP (R55H)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3076378	NM_020441.3(CORO1B):c.950G>T (p.Arg317Leu)	CORO1B (R317L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076377	NM_020441.3(CORO1B):c.830C>G (p.Pro277Arg)	CORO1B (P277R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076376	NM_020441.3(CORO1B):c.533T>C (p.Leu178Pro)	CORO1B, LOC130006199 (L178P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076375	NM_020441.3(CORO1B):c.434G>A (p.Arg145Gln)	CORO1B (R145Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076374	NM_020441.3(CORO1B):c.415G>T (p.Ala139Ser)	CORO1B (A139S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076373	NM_020441.3(CORO1B):c.203C>T (p.Thr68Met)	CORO1B (T68M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076372	NM_020441.3(CORO1B):c.1459G>T (p.Gly487Trp)	CORO1B (G487W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076371	NM_020441.3(CORO1B):c.1370T>G (p.Met457Arg)	CORO1B (M457R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076370	NM_020441.3(CORO1B):c.1366G>A (p.Val456Met)	CORO1B (V456M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076369	NM_020441.3(CORO1B):c.1324G>A (p.Gly442Ser)	CORO1B (G442S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076368	NM_020441.3(CORO1B):c.1226G>A (p.Arg409His)	CORO1B (R409H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076367	NM_020441.3(CORO1B):c.1222C>T (p.Arg408Trp)	CORO1B (R408W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063215	GRCh37/hg19 11q12.1-13.3(chr11:56895955-69295402)x3	ACTN3, ACY3 +343 more	Copy number gain	not specified	GLikely pathogenic
Select item 2684646	GRCh37/hg19 11q12.2-13.5(chr11:59923608-76272324)x3	FOLR2, RAB3IL1 +362 more	Copy number gain	not provided	GPathogenic
Select item 2642019	NM_020441.3(CORO1B):c.147G>A (p.Ala49=)	CORO1B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2621164	NM_020441.3(CORO1B):c.1205G>A (p.Arg402Gln)	CORO1B (R402Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559537	NM_020441.3(CORO1B):c.839G>C (p.Ser280Thr)	CORO1B (S280T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555661	NM_020441.3(CORO1B):c.197G>C (p.Ser66Thr)	CORO1B (S66T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554156	NM_020441.3(CORO1B):c.439G>A (p.Val147Met)	CORO1B (V147M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549090	NM_005608.3(PTPRCAP):c.236G>A (p.Arg79Gln)	CORO1B, PTPRCAP (R79Q)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2547795	NM_020441.3(CORO1B):c.187C>G (p.Leu63Val)	CORO1B (L63V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541878	NM_020441.3(CORO1B):c.815T>C (p.Leu272Pro)	CORO1B (L272P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536870	NM_020441.3(CORO1B):c.1196G>A (p.Ser399Asn)	CORO1B (S399N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531891	NM_020441.3(CORO1B):c.1348G>T (p.Ala450Ser)	CORO1B (A450S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527622	NM_005608.3(PTPRCAP):c.469G>A (p.Gly157Ser)	CORO1B, PTPRCAP (G157S)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2523855	NM_005608.3(PTPRCAP):c.106G>A (p.Val36Ile)	CORO1B, PTPRCAP (V36I)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2520796	NM_005608.3(PTPRCAP):c.293G>C (p.Gly98Ala)	CORO1B, PTPRCAP (G98A)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2494703	NM_020441.3(CORO1B):c.232G>A (p.Val78Met)	CORO1B (V78M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482859	NM_020441.3(CORO1B):c.1027C>T (p.Arg343Cys)	CORO1B (R343C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457614	NM_020441.3(CORO1B):c.508C>T (p.Arg170Cys)	CORO1B, LOC130006199 (R170C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2424770	NC_000011.9:g.(?_64973914)_(70052579_?)dup	ACTN3, ACY3 +124 more	Duplication	Aicardi-Goutieres syndrome 3 +1 more	GUncertain significance
Select item 2407360	NM_005608.3(PTPRCAP):c.437G>A (p.Arg146Gln)	CORO1B, PTPRCAP (R146Q)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GLikely benign
Select item 2398045	NM_020441.3(CORO1B):c.1448G>A (p.Arg483His)	CORO1B (R483H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396810	NM_020441.3(CORO1B):c.1316C>T (p.Thr439Ile)	CORO1B (T439I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388870	NM_005608.3(PTPRCAP):c.28G>T (p.Gly10Trp)	CORO1B, PTPRCAP (G10W)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2374352	NM_005608.3(PTPRCAP):c.281G>A (p.Arg94Gln)	CORO1B, PTPRCAP (R94Q)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2368337	NM_020441.3(CORO1B):c.1414G>A (p.Asp472Asn)	CORO1B (D472N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356168	NM_020441.3(CORO1B):c.1417C>T (p.Arg473Cys)	CORO1B (R473C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345278	NM_020441.3(CORO1B):c.1362G>C (p.Glu454Asp)	CORO1B (E454D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336302	NM_020441.3(CORO1B):c.338C>T (p.Pro113Leu)	CORO1B (P113L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327773	NM_020441.3(CORO1B):c.253G>A (p.Val85Ile)	CORO1B (V85I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327668	NM_020441.3(CORO1B):c.283G>A (p.Asp95Asn)	CORO1B (D95N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314494	NM_020441.3(CORO1B):c.301G>A (p.Gly101Ser)	CORO1B (G101S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287429	NM_020441.3(CORO1B):c.62A>G (p.Lys21Arg)	CORO1B (K21R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285861	NM_020441.3(CORO1B):c.1410G>T (p.Gln470His)	CORO1B (Q470H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268741	NM_020441.3(CORO1B):c.27G>C (p.Gln9His)	CORO1B (Q9H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2256779	NM_020441.3(CORO1B):c.1447C>T (p.Arg483Cys)	CORO1B (R483C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251477	NM_020441.3(CORO1B):c.1042A>C (p.Ile348Leu)	CORO1B (I348L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249048	NM_020441.3(CORO1B):c.401G>A (p.Arg134Gln)	CORO1B (R134Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236754	NM_005608.3(PTPRCAP):c.205C>T (p.Arg69Cys)	CORO1B, PTPRCAP (R69C)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2232121	NM_020441.3(CORO1B):c.973C>T (p.Arg325Trp)	CORO1B (R325W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2230939	NM_020441.3(CORO1B):c.878G>A (p.Arg293Gln)	CORO1B (R293Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221840	NM_020441.3(CORO1B):c.1223G>T (p.Arg408Leu)	CORO1B (R408L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215346	NM_020441.3(CORO1B):c.1246C>T (p.Arg416Trp)	CORO1B (R416W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214927	NM_020441.3(CORO1B):c.726G>A (p.Met242Ile)	CORO1B (M242I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	MAML2, MAP3K11 +955 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 997825	Single allele	MMP13, MMP20 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 815437	GRCh37/hg19 11q13.2(chr11:66820585-67979510)x3	ALDH3B2, ACY3 +32 more	Copy number gain	not provided	GUncertain significance
Select item 687044	GRCh37/hg19 11q13.2(chr11:67081259-67471729)x3	ACY3, AIP +21 more	Copy number gain	not provided	GUncertain significance
Select item 625593	GRCh37/hg19 11q13.1-13.2(chr11:65138976-67574402)	ACTN3, ACY3 +94 more	Copy number gain	not provided	GPathogenic
Select item 563826	GRCh37/hg19 11q13.2(chr11:67161003-67349899)x1	TBC1D10C, GPR152 +12 more	Copy number loss	not provided	GUncertain significance
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	SLC37A4, SNORD26 +1289 more	Copy number gain	See cases	GPathogenic
Select item 253811	GRCh37/hg19 11q13.2(chr11:66024774-67430781)x3	ACTN3, ACY3 +57 more	Copy number gain	See cases	GUncertain significance
Select item 154814	GRCh38/hg38 11q13.1-13.2(chr11:65741431-67705669)x1	GAL3ST3, GPR152 +282 more	Copy number loss	See cases	GPathogenic
Select item 147720	GRCh38/hg38 11q13.2(chr11:67397196-67644438)x1	LOC130006216, LOC130006217 +54 more	Copy number loss	See cases	GBenign
Select item 146304	GRCh38/hg38 11q13.2-13.3(chr11:67217264-69448598)x1	ACY3, AIP +206 more	Copy number loss	See cases	GLikely pathogenic
Select item 59757	GRCh38/hg38 11q13.2(chr11:66193502-67890770)x3	ACTN3, ACY3 +212 more	Copy number gain	See cases	GPathogenic
Select item 58892	GRCh38/hg38 11q13.2(chr11:66885910-67698250)x1	ACY3, AIP +129 more	Copy number loss	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 87