CSRP1[gene] - ClinVar

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Items: 36

	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 144143	GRCh38/hg38 1q32.1(chr1:200144603-203112078)x1	LOC122149345, LOC122149346 +166 more	Copy number loss	See cases	GPathogenic
Select item 57818	GRCh38/hg38 1q32.1(chr1:201226425-202014204)x3	CSRP1, CSRP1-AS1 +49 more	Copy number gain	See cases	GUncertain significance
Select item 711842	NM_004078.3(CSRP1):c.387G>A (p.Ala129=)	CSRP1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3078389	NM_004078.3(CSRP1):c.379T>C (p.Tyr127His)	CSRP1 (Y127H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2569874	NM_004078.3(CSRP1):c.372G>C (p.Gln124His)	CSRP1 (Q124H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523827	NM_004078.3(CSRP1):c.362G>A (p.Arg121Gln)	CSRP1 (R121Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221319	NM_004078.3(CSRP1):c.349G>A (p.Glu117Lys)	CSRP1 (E117K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543737	NM_004078.3(CSRP1):c.332A>T (p.Gln111Leu)	CSRP1 (Q111L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2639783	NM_004078.3(CSRP1):c.315T>C (p.Asn105=)	CSRP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2270062	NM_004078.3(CSRP1):c.305C>T (p.Thr102Ile)	CSRP1 (T102I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312458	NM_004078.3(CSRP1):c.260C>T (p.Ser87Leu)	CSRP1 (S87L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216826	NM_004078.3(CSRP1):c.220G>A (p.Gly74Arg)	CSRP1 (G74R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410966	NM_004078.3(CSRP1):c.215G>C (p.Gly72Ala)	CSRP1 (G72A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078388	NM_004078.3(CSRP1):c.209G>T (p.Gly70Val)	CSRP1 (G70V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 775640	NM_004078.3(CSRP1):c.186C>T (p.Tyr62=)	CSRP1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2402890	NM_004078.3(CSRP1):c.151G>A (p.Val51Met)	CSRP1 (V51M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 720828	NM_004078.3(CSRP1):c.82A>G (p.Asn28Asp)	CSRP1 (N28D)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3078390	NM_004078.3(CSRP1):c.47C>T (p.Thr16Met)	CSRP1 (T16M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547513	NM_004078.3(CSRP1):c.28T>C (p.Cys10Arg)	CSRP1 (C10R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3248093	NC_000001.10:g.(?_190829412)_(216061974_?)del	CFHR5, CHI3L1 +185 more	Deletion	not provided	GPathogenic
Select item 3062955	GRCh37/hg19 1q32.1(chr1:199373229-204335027)x3	ADIPOR1, ADORA1 +58 more	Copy number gain	not specified	GLikely pathogenic
Select item 3062655	GRCh37/hg19 1q31.3-32.1(chr1:197216705-203683110)x1	ADIPOR1, ADORA1 +57 more	Copy number loss	not specified	GLikely pathogenic
Select item 2425293	NC_000001.10:g.(?_200522516)_(206945780_?)dup	ADIPOR1, ADORA1 +90 more	Duplication	Epilepsy, familial adult myoclonic, 5	GUncertain significance
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 1527448	GRCh37/hg19 1q25.2-32.1(chr1:179413479-201764737)	ACBD6, APOBEC4 +98 more	Copy number loss	not specified	GPathogenic
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 685144	GRCh37/hg19 1q25.3-44(chr1:182388773-249111240)x3	CAPN9, CATSPERE +433 more	Copy number gain	not provided	GPathogenic
Select item 565211	GRCh37/hg19 1q32.1(chr1:200873507-201947585)x3	ASCL5, CACNA1S +15 more	Copy number gain	not provided	GUncertain significance
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: 36