5241[geneid] - ClinVar

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Search results

Items: 82

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58918	GRCh38/hg38 11q14.1-22.3(chr11:78232836-106779420)x1	LINC02553, LINC02700 +528 more	Copy number loss	See cases	GPathogenic
Select item 58919	GRCh38/hg38 11q14.1-22.2(chr11:85242847-102920097)x1	LOC101929174, LOC102723838 +378 more	Copy number loss	See cases	GPathogenic
Select item 148976	GRCh38/hg38 11q14.3-22.3(chr11:91086659-109595582)x1	LOC130006596, LOC130006597 +387 more	Copy number loss	See cases	GPathogenic
Select item 147379	GRCh38/hg38 11q22.1-22.3(chr11:98357901-106059146)x1	LOC132089949, LOC132089950 +149 more	Copy number loss	See cases	GPathogenic
Select item 59772	GRCh38/hg38 11q22.1-25(chr11:100348599-135040246)x3	LOC130006930, LOC130006931 +1199 more	Copy number gain	See cases	GPathogenic
Select item 2351123	NM_000926.4(PGR):c.2780C>A (p.Pro927His)	PGR (P333H +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 769806	NM_000926.4(PGR):c.2604G>A (p.Gln868=)	PGR	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2290442	NM_000926.4(PGR):c.2323A>G (p.Met775Val)	PGR (M509V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 722198	NM_000926.4(PGR):c.1983C>T (p.Gly661=)	PGR	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 720193	NM_000926.4(PGR):c.1951C>G (p.Leu651Val)	PGR (L651V +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GBenign
Select item 771450	NM_000926.4(PGR):c.1869C>A (p.Arg623=)	PGR	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 785890	NM_000926.4(PGR):c.1789+8C>T	PGR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2247482	NM_000926.4(PGR):c.1783A>G (p.Met595Val)	PGR (M1V +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3211900	NM_000926.4(PGR):c.1678G>A (p.Glu560Lys)	PGR (E396K +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3211899	NM_000926.4(PGR):c.1628A>G (p.Asn543Ser)	PGR (N379S +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2243348	NM_000926.4(PGR):c.1615C>T (p.Pro539Ser)	PGR (P375S +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 716972	NM_000926.4(PGR):c.1607A>C (p.Gln536Pro)	PGR (Q372P +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GBenign
Select item 738291	NM_000926.4(PGR):c.1575C>T (p.Tyr525=)	PGR	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2460067	NM_000926.4(PGR):c.1475G>T (p.Arg492Leu)	PGR (R328L +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2287293	NM_000926.4(PGR):c.1472C>G (p.Pro491Arg)	PGR (P327R +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3211897	NM_000926.4(PGR):c.1444G>A (p.Ala482Thr)	PGR (A318T +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2243948	NM_000926.4(PGR):c.1438T>G (p.Cys480Gly)	PGR (C316G +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2346975	NM_000926.4(PGR):c.1343T>C (p.Val448Ala)	PGR (V448A +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 710125	NM_000926.4(PGR):c.1323C>G (p.Ala441=)	PGR	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 713816	NM_000926.4(PGR):c.1305G>C (p.Gly435=)	PGR	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2204881	NM_000926.4(PGR):c.1301C>G (p.Pro434Arg)	PGR (P434R +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2352287	NM_000926.4(PGR):c.1271C>G (p.Pro424Arg)	PGR (P260R +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2554644	NM_000926.4(PGR):c.1244C>G (p.Pro415Arg)	PGR (P251R +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2234865	NM_000926.4(PGR):c.1231C>G (p.Pro411Ala)	PGR (P247A +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2221470	NM_000926.4(PGR):c.1184A>C (p.Glu395Ala)	PGR (E231A +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3211895	NM_000926.4(PGR):c.1135G>A (p.Asp379Asn)	PGR (D215N +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2456079	NM_000926.4(PGR):c.1120T>G (p.Tyr374Asp)	PGR (Y210D +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 768473	NM_000926.4(PGR):c.1040G>C (p.Cys347Ser)	PGR (C183S +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GBenign
Select item 3211894	NM_000926.4(PGR):c.1012G>A (p.Ala338Thr)	PGR (A174T +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2612567	NM_000926.4(PGR):c.976G>A (p.Asp326Asn)	PGR (D326N +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2642312	NM_000926.4(PGR):c.933C>T (p.Leu311=)	PGR	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 3211907	NM_000926.4(PGR):c.863C>G (p.Pro288Arg)	PGR (P124R +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3211906	NM_000926.4(PGR):c.841G>T (p.Ala281Ser)	PGR (A281S +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2493823	NM_000926.4(PGR):c.830C>G (p.Ala277Gly)	PGR (A113G +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2350210	NM_000926.4(PGR):c.809A>G (p.Lys270Arg)	PGR (K106R +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 768474	NM_000926.4(PGR):c.789A>G (p.Gly263=)	PGR	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 2318897	NM_000926.4(PGR):c.782C>G (p.Ala261Gly)	PGR (A261G +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2237229	NM_000926.4(PGR):c.760G>C (p.Ala254Pro)	PGR (A254P +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2286739	NM_000926.4(PGR):c.691G>A (p.Glu231Lys)	PGR (E67K +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3211904	NM_000926.4(PGR):c.662T>A (p.Val221Asp)	PGR (V57D +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2607642	NM_000926.4(PGR):c.640C>G (p.Pro214Ala)	PGR (P214A +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 768475	NM_000926.4(PGR):c.612C>T (p.His204=)	PGR	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 3211903	NM_000926.4(PGR):c.562G>A (p.Gly188Ser)	PGR (G188S +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 708537	NM_000926.4(PGR):c.561G>A (p.Arg187=)	PGR	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 787546	NM_000926.4(PGR):c.549A>G (p.Lys183=)	PGR	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign/Likely benign
Select item 2250192	NM_000926.4(PGR):c.490C>A (p.Leu164Ile)	PGR (L164I)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3211902	NM_000926.4(PGR):c.442C>T (p.Pro148Ser)	PGR (P148S)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2386612	NM_000926.4(PGR):c.413G>A (p.Ser138Asn)	PGR (S138N)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 740350	NM_000926.4(PGR):c.396C>A (p.Pro132=)	PGR	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
Select item 2362978	NM_000926.4(PGR):c.385C>T (p.Pro129Ser)	PGR (P129S)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 709071	NM_000926.4(PGR):c.359C>T (p.Ala120Val)	PGR (A120V)	Single nucleotide variant (missense variant +3 more)	not provided	GBenign
Select item 2274542	NM_000926.4(PGR):c.332T>C (p.Leu111Pro)	PGR (L111P)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3211901	NM_000926.4(PGR):c.259T>A (p.Tyr87Asn)	PGR (Y87N)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 710356	NM_000926.4(PGR):c.223C>A (p.Gln75Lys)	PGR (Q75K)	Single nucleotide variant (missense variant +3 more)	not provided	GLikely benign
Select item 743649	NM_000926.4(PGR):c.156T>A (p.Pro52=)	PGR	Single nucleotide variant (synonymous variant +3 more)	not provided	GBenign
Select item 785379	NM_000926.4(PGR):c.152T>C (p.Ile51Thr)	PGR (I51T)	Single nucleotide variant (missense variant +3 more)	not provided	GBenign
Select item 3211898	NM_000926.4(PGR):c.149C>A (p.Ala50Asp)	PGR (A50D)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 708538	NM_000926.4(PGR):c.147G>A (p.Ser49=)	PGR	Single nucleotide variant (synonymous variant +3 more)	not provided	GBenign
Select item 2292821	NM_000926.4(PGR):c.122C>T (p.Thr41Ile)	PGR (T41I)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2613017	NM_000926.4(PGR):c.85T>C (p.Cys29Arg)	PGR (C29R)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2221137	NM_000926.4(PGR):c.29G>A (p.Arg10Gln)	PGR (R10Q)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3063222	GRCh37/hg19 11q22.1(chr11:100770764-101584390)x3	ARHGAP42, PGR +2 more	Copy number gain	not specified	GUncertain significance
Select item 2684654	GRCh37/hg19 11q21-22.3(chr11:97147292-102979905)x3	ANGPTL5, ARHGAP42 +20 more	Copy number gain	not provided	GUncertain significance
Select item 1809349	GRCh37/hg19 11q14.1-22.3(chr11:81478509-104667040)x1	AMOTL1, ANGPTL5 +93 more	Copy number loss	not provided	GPathogenic
Select item 1807932	GRCh37/hg19 11q22.1-22.3(chr11:99059204-103281943)x3	ANGPTL5, ARHGAP42 +22 more	Copy number gain	not provided	GUncertain significance
Select item 1807796	GRCh37/hg19 11q22.1-22.3(chr11:98770072-104602846)x1	ANGPTL5, ARHGAP42 +24 more	Copy number loss	not provided	GLikely pathogenic
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	GRIA4, GRIK4 +956 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1340870	GRCh37/hg19 11q22.1(chr11:100183922-101781251)x3	ANGPTL5, ARHGAP42 +4 more	Copy number gain	not provided	GUncertain significance
Select item 1340004	GRCh37/hg19 11q14.1-23.3(chr11:85422071-118022671)x1	PCSK7, PGR +183 more	Copy number loss	not provided	GUncertain significance
Select item 1075501	NC_000011.9:g.(?_94153285)_(111965700_?)del	PIH1D2, PIWIL4 +95 more	Deletion	Ataxia-telangiectasia syndrome	GPathogenic
Select item 997825	Single allele	ACER3, ACP2 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 563885	GRCh37/hg19 11q13.4-23.3(chr11:71588805-116680918)x3	AAMDC, AASDHPPT +261 more	Copy number gain	not provided	GPathogenic
Select item 563854	GRCh37/hg19 11q22.1(chr11:100507403-101123672)x3	PGR, TMEM133 +1 more	Copy number gain	not provided	GLikely benign
Select item 442680	GRCh37/hg19 11q22.1-22.3(chr11:98515900-104970876)x1	ANGPTL5, ARHGAP42 +29 more	Copy number loss	See cases	GLikely pathogenic
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	ACP2, CREBZF +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	GALNT18, MPZL3 +1289 more	Copy number gain	See cases	GPathogenic
Select item 441837	GRCh37/hg19 11q14.2-22.3(chr11:88152458-109414650)x1	AASDHPPT, ACAT1 +95 more	Copy number loss	See cases	GPathogenic

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Items: 82