16253[HGNC] - ClinVar

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Items: 72

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 149704	GRCh38/hg38 20p13-12.1(chr20:80106-13029401)x3	LOC130065344, LOC130065345 +455 more	Copy number gain	See cases	GPathogenic
Select item 144514	GRCh38/hg38 20p13-q11.1(chr20:80106-30227427)x3	LOC129456123, LOC130065248 +833 more	Copy number gain	See cases	GPathogenic
Select item 153731	GRCh38/hg38 20p13-11.1(chr20:80927-26324843)x3	ABHD12, ACSS1 +828 more	Copy number gain	See cases	GPathogenic
Select item 155359	GRCh38/hg38 20p13-11.23(chr20:80928-18688031)x3	ADAM33, ADISSP +571 more	Copy number gain	See cases	GPathogenic
Select item 2579201	GRCh38/hg38 20p13-11.21(chr20:87153-23635465)x3	ADAM33, ADISSP +731 more	Copy number gain	Renal agenesis	GPathogenic
Select item 59191	GRCh38/hg38 20p13-11.23(chr20:89939-19071495)x3	ADAM33, ADISSP +579 more	Copy number gain	See cases	GPathogenic
Select item 57514	GRCh38/hg38 20p13-11.21(chr20:89939-25697564)x3	FASTKD5, FERMT1 +814 more	Copy number gain	See cases	GPathogenic
Select item 57354	GRCh38/hg38 20p13-11.23(chr20:89939-19146279)x3	LOC130065324, LOC130065325 +581 more	Copy number gain	See cases	GPathogenic
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	JPH2, KAT14 +2522 more	Copy number gain	See cases	GPathogenic
Select item 145966	GRCh38/hg38 20p12.3-12.1(chr20:6617695-13392559)x1	ANKEF1, BMP2 +109 more	Copy number loss	See cases	GPathogenic
Select item 148981	GRCh38/hg38 20p12.2-12.1(chr20:9290612-14648536)x3	ANKEF1, BTBD3 +87 more	Copy number gain	See cases	GUncertain significance
Select item 59195	GRCh38/hg38 20p12.2-q12(chr20:9811433-39316956)x3	LOC613266, MACROD2 +950 more	Copy number gain	See cases	GPathogenic
Select item 146068	GRCh38/hg38 20p12.1(chr20:12130588-14687477)x3	ESF1, FLRT3 +26 more	Copy number gain	See cases	GUncertain significance
Select item 150057	GRCh38/hg38 20p12.1(chr20:12775958-13349293)x3	ISM1, ISM1-AS1 +14 more	Copy number gain	See cases	GLikely benign
Select item 154507	GRCh38/hg38 20p12.1(chr20:12776078-13349316)x3	ISM1, ISM1-AS1 +14 more	Copy number gain	See cases	GUncertain significance
Select item 32195	GRCh38/hg38 20p12.1(chr20:12776078-13349316)x1	ISM1, ISM1-AS1 +14 more	Copy number loss	See cases	GUncertain significance
Select item 2287761	NM_018327.4(SPTLC3):c.101T>A (p.Ile34Lys)	SPTLC3 (I34K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2652205	NM_018327.4(SPTLC3):c.103G>A (p.Val35Met)	SPTLC3 (V35M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3169748	NM_018327.4(SPTLC3):c.130C>G (p.Pro44Ala)	SPTLC3 (P44A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520803	NM_018327.4(SPTLC3):c.152T>C (p.Ile51Thr)	SPTLC3 (I51T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613645	NM_018327.4(SPTLC3):c.271T>G (p.Cys91Gly)	SPTLC3 (C91G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 243088	NM_018327.4(SPTLC3):c.448T>C (p.Trp150Arg)	SPTLC3 (W150R)	Single nucleotide variant (missense variant)	Sensory neuropathy +1 more	GLikely pathogenic
Select item 2333200	NM_018327.4(SPTLC3):c.477C>G (p.Ile159Met)	SPTLC3 (I159M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275942	NM_018327.4(SPTLC3):c.481G>T (p.Asp161Tyr)	SPTLC3 (D161Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277638	NM_018327.4(SPTLC3):c.784G>T (p.Ala262Ser)	SPTLC3 (A262S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473251	NM_018327.4(SPTLC3):c.803C>T (p.Thr268Ile)	SPTLC3 (T268I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3322531	NM_018327.4(SPTLC3):c.862G>A (p.Val288Ile)	SPTLC3, TASP1 (V288I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3169753	NM_018327.4(SPTLC3):c.886C>T (p.Arg296Cys)	SPTLC3, TASP1 (R296C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590601	NM_018327.4(SPTLC3):c.887G>A (p.Arg296His)	SPTLC3, TASP1 (R296H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532020	NM_018327.4(SPTLC3):c.913C>G (p.Leu305Val)	SPTLC3, TASP1 (L305V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280013	NM_018327.4(SPTLC3):c.968T>G (p.Ile323Arg)	SPTLC3, TASP1 (I323R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516402	NM_018327.4(SPTLC3):c.1030G>A (p.Val344Met)	SPTLC3, TASP1 (V344M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517647	NM_018327.4(SPTLC3):c.1046G>A (p.Arg349Gln)	SPTLC3, TASP1 (R349Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169745	NM_018327.4(SPTLC3):c.1055C>T (p.Thr352Met)	SPTLC3, TASP1 (T352M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3322532	NM_018327.4(SPTLC3):c.1060T>C (p.Phe354Leu)	SPTLC3, TASP1 (F354L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473384	NM_018327.4(SPTLC3):c.1072G>T (p.Asp358Tyr)	SPTLC3, TASP1 (D358Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537777	NM_018327.4(SPTLC3):c.1074C>A (p.Asp358Glu)	SPTLC3, TASP1 (D358E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169746	NM_018327.4(SPTLC3):c.1093C>A (p.Leu365Ile)	SPTLC3, TASP1 (L365I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169747	NM_018327.4(SPTLC3):c.1103C>T (p.Thr368Ile)	SPTLC3, TASP1 (T368I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360587	NM_018327.4(SPTLC3):c.1159G>A (p.Val387Met)	SPTLC3, TASP1 (V387M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209712	NM_018327.4(SPTLC3):c.1217C>T (p.Pro406Leu)	SPTLC3, TASP1 (P406L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3322533	NM_018327.4(SPTLC3):c.1327C>A (p.Gln443Lys)	SPTLC3, TASP1 (Q443K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169749	NM_018327.4(SPTLC3):c.1453G>A (p.Val485Met)	SPTLC3, TASP1 (V485M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321128	NM_018327.4(SPTLC3):c.1462G>A (p.Val488Met)	SPTLC3, TASP1 (V488M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169750	NM_018327.4(SPTLC3):c.1501C>T (p.Arg501Trp)	SPTLC3, TASP1 (R501W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323397	NM_018327.4(SPTLC3):c.1502G>A (p.Arg501Gln)	SPTLC3, TASP1 (R501Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522988	NM_018327.4(SPTLC3):c.1544C>T (p.Thr515Met)	SPTLC3, TASP1 (T515M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300676	NM_018327.4(SPTLC3):c.1547T>A (p.Val516Asp)	SPTLC3, TASP1 (V516D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169751	NM_018327.4(SPTLC3):c.1556C>T (p.Ala519Val)	SPTLC3, TASP1 (A519V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302340	NM_018327.4(SPTLC3):c.1589A>G (p.Lys530Arg)	SPTLC3, TASP1 (K530R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464624	NM_018327.4(SPTLC3):c.1616G>A (p.Arg539His)	SPTLC3, TASP1 (R539H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169752	NM_018327.4(SPTLC3):c.1651G>A (p.Glu551Lys)	SPTLC3, TASP1 (E551K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3338444	GRCh37/hg19 20p12.3-12.1(chr20:5454270-13610745)x1	ANKEF1, BMP2 +22 more	Copy number loss	Congenital myasthenic syndrome 18	GLikely pathogenic
Select item 3024619	GRCh37/hg19 20p13-11.21(chr20:68351-23860313)x3	THBD, TMC2 +164 more	Copy number gain	not provided	GPathogenic
Select item 3024618	GRCh37/hg19 20p13-12.1(chr20:68351-16142323)x3	TMEM74B, TMX4 +114 more	Copy number gain	not provided	GPathogenic
Select item 1340705	GRCh37/hg19 20p12.1(chr20:12739155-13341547)x3	ISM1, SPTLC3	Copy number gain	not provided	GLikely benign
Select item 1340349	GRCh37/hg19 20p12.1(chr20:12739155-13341547)x1	ISM1, SPTLC3	Copy number loss	not provided	GUncertain significance
Select item 1328445	GRCh37/hg19 20p12.1(chr20:12740904-13338489)x1	ISM1, SPTLC3	Copy number loss	not provided	GUncertain significance
Select item 1328443	GRCh37/hg19 20p12.2-11.23(chr20:11702911-19179706)x3	SEC23B, SPTLC3 +28 more	Copy number gain	not provided	GUncertain significance
Select item 816114	GRCh37/hg19 20p12.3-11.22(chr20:8571696-22088650)x1	ANKEF1, BANF2 +49 more	Copy number loss	not provided	GPathogenic
Select item 816102	GRCh37/hg19 20p13-11.1(chr20:61568-26305479)x3	ABHD12, ACSS1 +177 more	Copy number gain	not provided	GPathogenic
Select item 686482	GRCh37/hg19 20p12.1(chr20:12742545-13338336)x3	ISM1, SPTLC3	Copy number gain	not provided	GUncertain significance
Select item 625735	GRCh37/hg19 20p12.2-11.23(chr20:11716825-19331055)	BANF2, BFSP1 +29 more	Copy number gain	not provided	GPathogenic
Select item 564645	GRCh37/hg19 20p13-12.1(chr20:3092739-17091453)x1	FERMT1, SPTLC3 +62 more	Copy number loss	not provided	GPathogenic
Select item 564644	GRCh37/hg19 20p12.3-12.1(chr20:7604120-14739025)x3	BTBD3, TMX4 +18 more	Copy number gain	not provided	GPathogenic
Select item 564630	GRCh37/hg19 20p12.1(chr20:12732368-13341547)x1	SPTLC3, ISM1	Copy number loss	not provided	GUncertain significance
Select item 443884	GRCh37/hg19 20p12.1(chr20:12722246-13341547)x3	ISM1, SPTLC3	Copy number gain	See cases	GUncertain significance
Select item 443340	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)x3	AAR2, ABHD12 +540 more	Copy number gain	See cases	GPathogenic
Select item 443339	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)	AAR2, ABHD12 +540 more	Copy number gain	See cases	GPathogenic
Select item 424642	GRCh37/hg19 20p13-q11.21(chr20:80198-26208081)x3	ESF1, FAM110A +178 more	Copy number gain	not provided	GPathogenic
Select item 394915	GRCh37/hg19 20p12.1(chr20:12860899-13329904)x3	ISM1, SPTLC3	Copy number gain	See cases	GLikely benign
Select item 253647	GRCh37/hg19 20p13-11.1(chr20:80198-26075841)x3	ABHD12, ACSS1 +176 more	Copy number gain	See cases	GPathogenic

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Items: 72