32933[HGNC] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 173

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC124210612, LOC124210613 +3786 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	LOC121331326, LOC121331327 +3785 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC126860737, LOC126860738 +3786 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	LOC110121197, LOC110121234 +3786 more	Copy number gain	See cases	GPathogenic
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC121331342, LOC121331343 +3786 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	LOC113839542, LOC113839543 +3786 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	LOC130002189, LOC130002190 +3786 more	Copy number gain	See cases	GPathogenic
Select item 147624	GRCh38/hg38 9q21.11-31.2(chr9:68420430-106579493)x3	ABCA1, ABHD17B +1072 more	Copy number gain	See cases	GPathogenic
Select item 151006	GRCh38/hg38 9q21.12-31.3(chr9:69627642-111454304)x3	ABCA1, ABHD17B +1188 more	Copy number gain	See cases	GPathogenic
Select item 59881	GRCh38/hg38 9q22.1-32(chr9:88522292-113687796)x3	LOC130002218, LOC130002219 +994 more	Copy number gain	See cases	GPathogenic
Select item 59118	GRCh38/hg38 9q22.31-22.33(chr9:91596533-97018746)x1	AOPEP, ASPN +268 more	Copy number loss	See cases	GPathogenic
Select item 58479	GRCh38/hg38 9q22.31(chr9:91935027-92331095)x3	CENPP, IARS1 +16 more	Copy number gain	See cases	GUncertain significance
Select item 154976	GRCh38/hg38 9q22.31(chr9:92094765-92337566)x3	LOC130002066, CENPP +11 more	Copy number gain	See cases	GUncertain significance
Select item 221727	GRCh38/hg38 9q22.31(chr9:92301666-92417555)x1	OMD, CENPP +4 more	Copy number loss	Premature ovarian failure	GUncertain significance
Select item 2339753	NM_001012267.3(CENPP):c.146G>T (p.Gly49Val)	CENPP (G49V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2391297	NM_001012267.3(CENPP):c.162A>T (p.Lys54Asn)	CENPP (K54N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3265941	NM_001012267.3(CENPP):c.202T>G (p.Ser68Ala)	CENPP (S68A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3043563	NM_001012267.3(CENPP):c.215C>T (p.Thr72Met)	CENPP (T72M)	Single nucleotide variant (missense variant +1 more)	CENPP-related disorder	GLikely benign
Select item 3265939	NM_001012267.3(CENPP):c.371A>G (p.Glu124Gly)	CENPP (E124G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3265940	NM_001012267.3(CENPP):c.385G>A (p.Glu129Lys)	CENPP (E17K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142415	NM_001012267.3(CENPP):c.410A>T (p.Asp137Val)	CENPP (D25V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319108	NM_001012267.3(CENPP):c.418A>G (p.Ile140Val)	CENPP (I28V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337941	NM_001012267.3(CENPP):c.475G>C (p.Glu159Gln)	CENPP (E47Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3048561	NM_001012267.3(CENPP):c.503G>A (p.Arg168Gln)	CENPP (R168Q +1 more)	Single nucleotide variant (missense variant)	CENPP-related disorder	GLikely benign
Select item 2555125	NM_001012267.3(CENPP):c.552T>G (p.Phe184Leu)	CENPP (F72L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204162	NM_014057.5(OGN):c.790C>T (p.Arg264Trp)	CENPP, OGN (R264W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2624186	NM_014057.5(OGN):c.665A>G (p.His222Arg)	CENPP, OGN (H222R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3302233	NM_014057.5(OGN):c.547C>T (p.Pro183Ser)	CENPP, OGN (P241S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3302235	NM_014057.5(OGN):c.481G>A (p.Gly161Ser)	CENPP, OGN (G161S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3302234	NM_014057.5(OGN):c.471T>A (p.Asp157Glu)	CENPP, OGN (D157E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3204161	NM_014057.5(OGN):c.397A>C (p.Lys133Gln)	CENPP, OGN (K133Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2278949	NM_014057.5(OGN):c.364G>A (p.Ala122Thr)	CENPP, OGN (A180T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3204160	NM_014057.5(OGN):c.352C>G (p.Pro118Ala)	CENPP, OGN (P176A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2304444	NM_014057.5(OGN):c.242C>T (p.Pro81Leu)	CENPP, OGN (P139L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3204159	NM_014057.5(OGN):c.233C>T (p.Ala78Val)	CENPP, OGN (A136V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3204158	NM_014057.5(OGN):c.201T>A (p.Asn67Lys)	CENPP, OGN (N125K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2280955	NM_014057.5(OGN):c.83G>A (p.Arg28His)	CENPP, OGN (R28H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2367684	NM_014057.5(OGN):c.79T>A (p.Ser27Thr)	CENPP, OGN (S27T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3204297	NM_005014.3(OMD):c.1228G>A (p.Gly410Arg)	CENPP, OMD (G410R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3204296	NM_005014.3(OMD):c.1102A>G (p.Thr368Ala)	CENPP, OMD (T368A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3204295	NM_005014.3(OMD):c.1097G>A (p.Arg366Gln)	CENPP, OMD (R366Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2457147	NM_005014.3(OMD):c.1073A>G (p.His358Arg)	CENPP, OMD (H358R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3204294	NM_005014.3(OMD):c.1072C>T (p.His358Tyr)	CENPP, OMD (H358Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2372823	NM_005014.3(OMD):c.1068T>A (p.His356Gln)	CENPP, OMD (H356Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2488778	NM_005014.3(OMD):c.1057T>A (p.Cys353Ser)	CENPP, OMD (C353S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3204293	NM_005014.3(OMD):c.1007G>A (p.Arg336His)	CENPP, OMD (R336H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3204299	NM_005014.3(OMD):c.850G>C (p.Glu284Gln)	CENPP, OMD (E284Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3204298	NM_005014.3(OMD):c.844A>G (p.Ile282Val)	CENPP, OMD (I282V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2209904	NM_005014.3(OMD):c.827T>C (p.Ile276Thr)	CENPP, OMD (I276T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3302304	NM_005014.3(OMD):c.779A>G (p.His260Arg)	CENPP, OMD (H260R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2284408	NM_005014.3(OMD):c.737C>A (p.Ser246Tyr)	CENPP, OMD (S246Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2517621	NM_005014.3(OMD):c.719T>C (p.Leu240Ser)	CENPP, OMD (L240S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2595302	NM_005014.3(OMD):c.707T>G (p.Met236Arg)	CENPP, OMD (M236R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2558778	NM_005014.3(OMD):c.602C>T (p.Ser201Phe)	CENPP, OMD (S201F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2336647	NM_005014.3(OMD):c.571C>T (p.Leu191Phe)	CENPP, OMD (L191F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2617562	NM_005014.3(OMD):c.395T>C (p.Ile132Thr)	CENPP, OMD (I132T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2261881	NM_005014.3(OMD):c.286C>T (p.Leu96Phe)	CENPP, OMD (L96F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2356123	NM_005014.3(OMD):c.269C>T (p.Pro90Leu)	CENPP, OMD (P90L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2265188	NM_005014.3(OMD):c.214T>C (p.Phe72Leu)	CENPP, OMD (F72L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1049559	NM_017680.6(ASPN):c.1090C>T (p.Arg364Cys)	ASPN, CENPP (R364C)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 3052688	NM_017680.6(ASPN):c.727T>C (p.Leu243=)	ASPN, CENPP	Single nucleotide variant (synonymous variant +1 more)	ASPN-related disorder	GLikely benign
Select item 2274517	NM_017680.6(ASPN):c.627T>A (p.Asn209Lys)	ASPN, CENPP (N209K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3041357	NM_017680.6(ASPN):c.575G>A (p.Gly192Glu)	ASPN, CENPP (G192E)	Single nucleotide variant (missense variant +1 more)	ASPN-related disorder	GBenign
Select item 3051497	NM_017680.6(ASPN):c.378A>T (p.Ser126=)	ASPN, CENPP	Single nucleotide variant (synonymous variant +1 more)	ASPN-related disorder	GLikely benign
Select item 3033526	NM_001012267.3(CENPP):c.564+94884TCA[18]	ASPN, CENPP	Microsatellite (inframe_insertion +1 more)	CENPP-related disorder	GBenign
Select item 1248251	NM_017680.6(ASPN):c.114TGA[19] (p.Asp50_Glu51insAspAspAspAspAspAsp)	ASPN, CENPP	Microsatellite (inframe_insertion +1 more)	not provided	GBenign
Select item 1237100	NM_017680.6(ASPN):c.114TGA[16] (p.Asp50_Glu51insAspAspAsp)	ASPN, CENPP	Microsatellite (inframe_insertion +1 more)	not provided	GBenign
Select item 419955	NM_017680.6(ASPN):c.114TGA[17] (p.Asp50_Glu51insAspAspAspAsp)	ASPN, CENPP	Microsatellite (inframe_insertion +1 more)	not provided	GUncertain significance
Select item 2527	NM_017680.6(ASPN):c.114TGA[15] (p.Asp50_Glu51insAspAsp)	ASPN, CENPP	Microsatellite (inframe_insertion +1 more)	not specified	GBenign
Select item 1302755	NM_017680.6(ASPN):c.112_152= (p.Asp38_Glu51=)	ASPN, CENPP	Microsatellite (no sequence alteration +1 more)	not provided	GBenign
Select item 3040749	NM_017680.6(ASPN):c.132T>C (p.Asp44=)	ASPN, CENPP	Single nucleotide variant (synonymous variant +1 more)	ASPN-related disorder	GLikely benign
Select item 3048941	NM_017680.6(ASPN):c.89T>C (p.Met30Thr)	ASPN, CENPP (M30T)	Single nucleotide variant (missense variant +1 more)	ASPN-related disorder	GLikely benign
Select item 2247049	NM_017680.6(ASPN):c.62C>A (p.Pro21His)	ASPN, CENPP (P21H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2478243	NM_001393.4(ECM2):c.2036C>T (p.Ser679Phe)	CENPP, ECM2 (S679F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2326747	NM_001393.4(ECM2):c.1930C>T (p.Arg644Trp)	CENPP, ECM2 (R622C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2305605	NM_001393.4(ECM2):c.1898T>G (p.Leu633Arg)	CENPP, ECM2 (L611R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2360818	NM_001393.4(ECM2):c.1882C>A (p.Gln628Lys)	CENPP, ECM2 (Q628K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2363413	NM_001393.4(ECM2):c.1811A>G (p.Tyr604Cys)	CENPP, ECM2 (Y582C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3086991	NM_001393.4(ECM2):c.1799G>A (p.Arg600His)	CENPP, ECM2 (R600H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2411874	NM_001393.4(ECM2):c.1785T>A (p.Asp595Glu)	CENPP, ECM2 (D595E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3274423	NM_001393.4(ECM2):c.1757T>G (p.Leu586Trp)	CENPP, ECM2 (L586W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2467278	NM_001393.4(ECM2):c.1708C>T (p.Arg570Trp)	CENPP, ECM2 (R548W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3086990	NM_001393.4(ECM2):c.1652C>T (p.Pro551Leu)	CENPP, ECM2 (P529L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2401633	NM_001393.4(ECM2):c.1559A>G (p.Lys520Arg)	CENPP, ECM2 (K498R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2618844	NM_001393.4(ECM2):c.1532T>C (p.Ile511Thr)	CENPP, ECM2 (I511T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2400340	NM_001393.4(ECM2):c.1521T>A (p.His507Gln)	CENPP, ECM2 (H485Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3086989	NM_001393.4(ECM2):c.1502C>T (p.Thr501Ile)	CENPP, ECM2 (T501I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2461453	NM_001393.4(ECM2):c.1460T>C (p.Ile487Thr)	CENPP, ECM2 (I465T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2481767	NM_001393.4(ECM2):c.1439C>T (p.Pro480Leu)	CENPP, ECM2 (P458L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2277073	NM_001393.4(ECM2):c.1412T>C (p.Leu471Pro)	CENPP, ECM2 (L449P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3086988	NM_001393.4(ECM2):c.1408C>A (p.Arg470Ser)	CENPP, ECM2 (R448S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2281663	NM_001393.4(ECM2):c.1397T>C (p.Leu466Pro)	CENPP, ECM2 (L466P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2463246	NM_001393.4(ECM2):c.1288G>A (p.Asp430Asn)	CENPP, ECM2 (D408N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2618144	NM_001393.4(ECM2):c.1283C>T (p.Ala428Val)	CENPP, ECM2 (A428V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2240526	NM_001393.4(ECM2):c.1186A>T (p.Met396Leu)	CENPP, ECM2 (M396L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3274421	NM_001393.4(ECM2):c.1151T>C (p.Ile384Thr)	CENPP, ECM2 (I384T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2476910	NM_001393.4(ECM2):c.1075C>A (p.Pro359Thr)	CENPP, ECM2 (P337T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2212439	NM_001393.4(ECM2):c.1066G>A (p.Ala356Thr)	CENPP, ECM2 (A356T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign

<< First< Prev

Page of 2