15859[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 3031214	NM_080826.2(ISM1):c.14C>T (p.Ala5Val)	ISM1, TASP1 (A5V)	Single nucleotide variant (missense variant)	ISM1-related disorder	GUncertain significance
Select item 3037929	NM_080826.2(ISM1):c.22CTG[4] (p.Leu12del)	ISM1, TASP1 (L12del)	Microsatellite	ISM1-related disorder	GLikely benign
Select item 2324144	NM_080826.2(ISM1):c.22C>G (p.Leu8Val)	ISM1, TASP1 (L8V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595482	NM_080826.2(ISM1):c.79T>C (p.Ser27Pro)	ISM1, TASP1 (S27P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286622	NM_080826.2(ISM1):c.100G>T (p.Asp34Tyr)	ISM1, TASP1 (D34Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313493	NM_080826.2(ISM1):c.167C>T (p.Thr56Ile)	ISM1, TASP1 (T56I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408170	NM_080826.2(ISM1):c.215T>C (p.Leu72Pro)	ISM1, TASP1 (L72P)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3040070	NM_080826.2(ISM1):c.252G>A (p.Pro84=)	ISM1, TASP1	Single nucleotide variant (synonymous variant)	ISM1-related disorder	GLikely benign
Select item 2633990	NM_080826.2(ISM1):c.259C>T (p.Arg87Ter)	ISM1, TASP1 (R87*)	Single nucleotide variant (nonsense)	ISM1-related disorder	GUncertain significance
Select item 2229789	NM_080826.2(ISM1):c.275A>G (p.His92Arg)	ISM1, TASP1 (H92R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3034804	NM_080826.2(ISM1):c.313C>T (p.Leu105Phe)	ISM1, TASP1 (L105F)	Single nucleotide variant (missense variant)	ISM1-related disorder	GLikely benign
Select item 3044524	NM_080826.2(ISM1):c.376C>G (p.Gln126Glu)	ISM1, TASP1 (Q126E)	Single nucleotide variant (missense variant)	ISM1-related disorder	GBenign
Select item 3039672	NM_080826.2(ISM1):c.397G>A (p.Asp133Asn)	ISM1, TASP1 (D133N)	Single nucleotide variant (missense variant)	ISM1-related disorder	GBenign
Select item 2380253	NM_080826.2(ISM1):c.400G>A (p.Gly134Ser)	ISM1, TASP1 (G134S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607295	NM_080826.2(ISM1):c.425A>T (p.Asp142Val)	ISM1, TASP1 (D142V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394825	NM_080826.2(ISM1):c.434C>T (p.Pro145Leu)	ISM1, TASP1 (P145L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111029	NM_080826.2(ISM1):c.469G>A (p.Asp157Asn)	ISM1, TASP1 (D157N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3047170	NM_080826.2(ISM1):c.507C>G (p.Ala169=)	ISM1, TASP1	Single nucleotide variant (synonymous variant)	ISM1-related disorder	GLikely benign
Select item 3286623	NM_080826.2(ISM1):c.510G>T (p.Arg170Ser)	ISM1, TASP1 (R170S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111030	NM_080826.2(ISM1):c.556G>A (p.Asp186Asn)	ISM1, TASP1 (D186N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608666	NM_080826.2(ISM1):c.592C>T (p.His198Tyr)	ISM1, TASP1 (H198Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530776	NM_080826.2(ISM1):c.611G>A (p.Arg204Gln)	ISM1, TASP1 (R204Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111031	NM_080826.2(ISM1):c.641A>C (p.Tyr214Ser)	ISM1, TASP1 (Y214S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596700	NM_080826.2(ISM1):c.653A>G (p.Asp218Gly)	ISM1, TASP1 (D218G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3036491	NM_080826.2(ISM1):c.657C>A (p.Gly219=)	ISM1, TASP1	Single nucleotide variant (synonymous variant)	ISM1-related disorder	GLikely benign
Select item 3286621	NM_080826.2(ISM1):c.683T>C (p.Val228Ala)	ISM1, TASP1 (V228A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3053477	NM_080826.2(ISM1):c.690C>T (p.Ser230=)	ISM1, TASP1	Single nucleotide variant (synonymous variant)	ISM1-related disorder	GLikely benign
Select item 2336174	NM_080826.2(ISM1):c.719G>A (p.Arg240Gln)	ISM1, TASP1 (R240Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286625	NM_080826.2(ISM1):c.820G>A (p.Glu274Lys)	ISM1, TASP1 (E274K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208659	NM_080826.2(ISM1):c.836C>T (p.Ala279Val)	ISM1, TASP1 (A279V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249747	NM_080826.2(ISM1):c.844G>A (p.Glu282Lys)	ISM1, TASP1 (E282K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341497	NM_080826.2(ISM1):c.866T>C (p.Leu289Pro)	ISM1, TASP1 (L289P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254169	NM_080826.2(ISM1):c.874G>C (p.Val292Leu)	ISM1, TASP1 (V292L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3047599	NM_080826.2(ISM1):c.878-10C>A	ISM1, TASP1	Single nucleotide variant (intron variant)	ISM1-related disorder	GLikely benign
Select item 2549818	NM_080826.2(ISM1):c.934A>G (p.Met312Val)	ISM1, TASP1 (M312V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3352076	NM_080826.2(ISM1):c.1096C>A (p.Arg366=)	ISM1, TASP1	Single nucleotide variant (synonymous variant)	ISM1-related disorder	GLikely benign
Select item 2264901	NM_080826.2(ISM1):c.1109G>T (p.Arg370Leu)	ISM1, TASP1 (R370L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286624	NM_080826.2(ISM1):c.1162G>A (p.Gly388Ser)	ISM1, TASP1 (G388S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494095	NM_080826.2(ISM1):c.1225G>C (p.Glu409Gln)	ISM1, TASP1 (E409Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456750	NM_080826.2(ISM1):c.1258G>A (p.Val420Ile)	ISM1, TASP1 (V420I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2390678	NM_080826.2(ISM1):c.1303G>A (p.Glu435Lys)	ISM1, TASP1 (E435K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601076	NM_080826.2(ISM1):c.1327C>G (p.Gln443Glu)	ISM1, TASP1 (Q443E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3039192	NM_080826.2(ISM1):c.1331A>G (p.Lys444Arg)	ISM1, TASP1 (K444R)	Single nucleotide variant (missense variant)	ISM1-related disorder	GBenign
Select item 2260999	NM_080826.2(ISM1):c.1343G>A (p.Ser448Asn)	ISM1, TASP1 (S448N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3044432	NM_080826.2(ISM1):c.*4G>C	ISM1, TASP1	Single nucleotide variant (3 prime UTR variant)	ISM1-related disorder	GLikely benign
Select item 3048393	NM_080826.2(ISM1):c.*5A>G	ISM1, TASP1	Single nucleotide variant (3 prime UTR variant)	ISM1-related disorder	GBenign
Select item 2396084	NM_017714.3(TASP1):c.1198G>A (p.Ala400Thr)	TASP1 (A269T +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2466281	NM_017714.3(TASP1):c.1172C>G (p.Thr391Ser)	TASP1 (T391S +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3055272	NM_017714.3(TASP1):c.1171-16CT[5]	TASP1	Microsatellite (intron variant)	TASP1-related disorder	GLikely benign
Select item 2265152	NM_017714.3(TASP1):c.1123G>A (p.Glu375Lys)	TASP1 (E273K +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2607130	NM_017714.3(TASP1):c.1063C>A (p.Pro355Thr)	TASP1 (P253T +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2242392	NM_017714.3(TASP1):c.1060G>A (p.Glu354Lys)	TASP1 (E223K +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 973975	NM_017714.3(TASP1):c.1027G>A (p.Val343Met)	TASP1 (V343M +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3256687	NM_017714.3(TASP1):c.1024G>A (p.Gly342Arg)	TASP1 (G211R +2 more)	Single nucleotide variant (missense variant +1 more)	Suleiman-El-Hattab syndrome	GUncertain significance
Select item 149958	GRCh38/hg38 20p12.1(chr20:13441077-14062969)x4	ESF1, LOC113939992 +8 more	Copy number gain	See cases	GUncertain significance
Select item 633715	NC_000020.10:g.13448380_13597783del	TASP1, LOC125384585	Deletion	Developmental delay +2 more	GLikely pathogenic
Select item 1683690	NM_017714.3(TASP1):c.977A>G (p.Lys326Arg)	TASP1 (K195R +2 more)	Single nucleotide variant (missense variant +1 more)	Suleiman-El-Hattab syndrome	GUncertain significance
Select item 2231960	NM_017714.3(TASP1):c.903A>G (p.Ile301Met)	TASP1 (I199M +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2442162	NM_017714.3(TASP1):c.875-10G>A	TASP1	Single nucleotide variant (intron variant)	Suleiman-El-Hattab syndrome	GUncertain significance

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