9605[HGNC] - ClinVar

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Items: 51

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155621	GRCh38/hg38 1q24.2-31.1(chr1:170036068-187555148)x1	MYOC, MYOCOS +540 more	Copy number loss	See cases	GPathogenic
Select item 154301	GRCh38/hg38 1q24.3-31.2(chr1:170929720-191065409)x1	LOC129932082, LOC129932083 +561 more	Copy number loss	See cases	GPathogenic
Select item 145519	GRCh38/hg38 1q24.3-31.1(chr1:171039975-186875957)x3	ABL2, ACBD6 +513 more	Copy number gain	See cases	GPathogenic
Select item 144717	GRCh38/hg38 1q25.2-31.3(chr1:176595962-196301688)x1	MIR488, MR1 +456 more	Copy number loss	See cases	GPathogenic
Select item 60076	GRCh38/hg38 1q25.2-32.1(chr1:179032905-199724897)x1	LOC129932021, LOC129932022 +478 more	Copy number loss	See cases	GPathogenic
Select item 60077	GRCh38/hg38 1q25.3-31.1(chr1:182137726-186931125)x1	APOBEC4, ARPC5 +160 more	Copy number loss	See cases	GPathogenic
Select item 149055	GRCh38/hg38 1q31.1(chr1:185959703-187743891)x3	PLA2G4A, PRG4 +32 more	Copy number gain	See cases	GUncertain significance
Select item 154645	GRCh38/hg38 1q31.1(chr1:185977899-187712734)x3	HMCN1, LINC01036 +32 more	Copy number gain	See cases	GUncertain significance
Select item 2571393	NM_000963.4(PTGS2):c.*427T>C	PTGS2	Single nucleotide variant (3 prime UTR variant)	Cholangiocarcinoma	Gother
Select item 3220841	NM_000963.4(PTGS2):c.1784T>C (p.Val595Ala)	PTGS2 (V595A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 736161	NM_000963.4(PTGS2):c.1767T>C (p.Asp589=)	PTGS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 720903	NM_000963.4(PTGS2):c.1755C>A (p.Arg585=)	PTGS2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2493237	NM_000963.4(PTGS2):c.1742C>G (p.Ala581Gly)	PTGS2 (A581G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3311327	NM_000963.4(PTGS2):c.1741G>A (p.Ala581Thr)	PTGS2 (A581T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220840	NM_000963.4(PTGS2):c.1733C>T (p.Thr578Ile)	PTGS2 (T578I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604033	NM_000963.4(PTGS2):c.1733C>G (p.Thr578Ser)	PTGS2 (T578S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329602	NM_000963.4(PTGS2):c.1586C>T (p.Ala529Val)	PTGS2 (A529V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 717675	NM_000963.4(PTGS2):c.1497G>A (p.Arg499=)	PTGS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2330976	NM_000963.4(PTGS2):c.1423G>A (p.Ala475Thr)	PTGS2 (A475T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276814	NM_000963.4(PTGS2):c.1413G>C (p.Lys471Asn)	PTGS2 (K471N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218758	NM_000963.4(PTGS2):c.1306G>T (p.Ala436Ser)	PTGS2 (A436S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 750088	NM_000963.4(PTGS2):c.1257+8T>C	PTGS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 780290	NM_000963.4(PTGS2):c.1209T>C (p.His403=)	PTGS2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 749381	NM_000963.4(PTGS2):c.1098A>G (p.Glu366=)	PTGS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 780291	NM_000963.4(PTGS2):c.900T>C (p.Asp300=)	PTGS2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 765337	NM_000963.4(PTGS2):c.720T>C (p.Tyr240=)	PTGS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 759981	NM_000963.4(PTGS2):c.640-9A>C	PTGS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2275247	NM_000963.4(PTGS2):c.533A>G (p.Gln178Arg)	LOC126805956, PTGS2 (Q178R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 773291	NM_000963.4(PTGS2):c.457+9G>A	LOC126805956, PTGS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 773292	NM_000963.4(PTGS2):c.390C>T (p.Asn130=)	LOC126805956, PTGS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2494808	NM_000963.4(PTGS2):c.380C>G (p.Ala127Gly)	LOC126805956, PTGS2 (A127G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220842	NM_000963.4(PTGS2):c.299G>A (p.Ser100Asn)	PTGS2 (S100N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 759341	NM_000963.4(PTGS2):c.258C>T (p.Asn86=)	PTGS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2621829	NM_000963.4(PTGS2):c.217A>G (p.Thr73Ala)	PTGS2 (T73A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2571394	NC_000001.11:g.186681189C>G	PACERR, PTGS2	Single nucleotide variant (non-coding transcript variant)	Cholangiocarcinoma	Gother
Select item 3063521	GRCh37/hg19 1q24.2-31.1(chr1:167994071-187711459)x1	ABL2, ACBD6 +123 more	Copy number loss	not specified	GPathogenic
Select item 2426819	NC_000001.10:g.(?_185703912)_(186957640_?)dup	HMCN1, OCLM +6 more	Duplication	not provided	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 1808632	GRCh37/hg19 1q25.2-31.2(chr1:179727182-192260142)x1	ACBD6, APOBEC4 +48 more	Copy number loss	not provided	GPathogenic
Select item 1808555	GRCh37/hg19 1q31.1(chr1:186137950-187028283)x3	HMCN1, OCLM +6 more	Copy number gain	not provided	GUncertain significance
Select item 1527448	GRCh37/hg19 1q25.2-32.1(chr1:179413479-201764737)	ACBD6, APOBEC4 +98 more	Copy number loss	not specified	GPathogenic
Select item 1527437	GRCh37/hg19 1q25.2-32.1(chr1:179073386-200192265)	ABL2, ACBD6 +82 more	Copy number loss	not specified	GPathogenic
Select item 1527404	GRCh37/hg19 1q24.3-31.3(chr1:171990029-195086758)	BRINP2, BRINP3 +101 more	Copy number loss	not specified	GPathogenic
Select item 1341276	GRCh37/hg19 1q25.2-31.1(chr1:178522021-190322133)x1	ABL2, ACBD6 +56 more	Copy number loss	not provided	GPathogenic
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	FCGR3A, LCE3C +956 more	Duplication	Parathyroid carcinoma +2 more	GUncertain significance
Select item 814145	GRCh37/hg19 1q25.2-32.1(chr1:177551193-199599056)x1	ABL2, ACBD6 +88 more	Copy number loss	not provided	GPathogenic
Select item 685144	GRCh37/hg19 1q25.3-44(chr1:182388773-249111240)x3	C4BPB, CACNA1S +433 more	Copy number gain	not provided	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 442042	GRCh37/hg19 1q25.2-32.1(chr1:179011314-199022759)x1	DENND1B, DHX9 +83 more	Copy number loss	See cases	GPathogenic
Select item 253546	GRCh37/hg19 1q25.3-31.2(chr1:181572003-191524283)x1	COLGALT2, LAMC1 +35 more	Copy number loss	See cases	GPathogenic

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Items: 51