15478[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150785	GRCh38/hg38 20p13-12.3(chr20:80093-6386012)x3	LOC130065401, LOC130065402 +348 more	Copy number gain	See cases	GPathogenic
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 154176	GRCh38/hg38 20p13-12.3(chr20:80927-5447679)x3	LOC112694699, LOC112694712 +306 more	Copy number gain	See cases	GUncertain significance
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 152841	GRCh38/hg38 20p13-12.3(chr20:84402-6159078)x3	LOC114004355, LOC116286198 +347 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 154850	GRCh38/hg38 20p13-12.3(chr20:1269303-8626911)x3	LOC130065322, LOC130065323 +300 more	Copy number gain	See cases	GPathogenic
Select item 59194	GRCh38/hg38 20p13(chr20:3059231-4187716)x3	ADAM33, ADISSP +76 more	Copy number gain	See cases	GPathogenic
Select item 154523	GRCh38/hg38 20p13(chr20:3177313-3849958)x1	ADAM33, ADISSP +45 more	Copy number loss	See cases	GUncertain significance
Select item 145587	GRCh38/hg38 20p13(chr20:3177313-3734506)x1	ADAM33, ATRN +24 more	Copy number loss	See cases	GUncertain significance
Select item 146301	GRCh38/hg38 20p13(chr20:3510905-3891967)x3	ADAM33, ADISSP +33 more	Copy number gain	See cases	GUncertain significance
Select item 402342	NM_025220.5(ADAM33):c.2412_2419del (p.Gln804fs)	ADAM33 (Q803fs +2 more)	Deletion (frameshift variant)	not provided +1 more	GBenign
Select item 2536309	NM_025220.5(ADAM33):c.2356A>T (p.Ser786Cys)	ADAM33 (S786C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 769070	NM_025220.5(ADAM33):c.2280C>T (p.Gly760=)	ADAM33	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 729623	NM_025220.5(ADAM33):c.2268C>T (p.His756=)	ADAM33	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3145823	NM_025220.5(ADAM33):c.2212G>A (p.Gly738Ser)	ADAM33 (G712S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377860	NM_025220.5(ADAM33):c.2201G>A (p.Arg734Gln)	ADAM33 (R708Q +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2412333	NM_025220.5(ADAM33):c.2177G>A (p.Arg726Gln)	ADAM33 (R700Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1810748	NM_025220.5(ADAM33):c.2128G>A (p.Val710Ile)	ADAM33 (V710I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305085	NM_025220.5(ADAM33):c.2118G>A (p.Met706Ile)	ADAM33 (M680I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 784404	NM_025220.5(ADAM33):c.2102C>A (p.Thr701Asn)	ADAM33 (T701N +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3145810	NM_025220.5(ADAM33):c.2099A>T (p.Asp700Val)	ADAM33 (D674V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145806	NM_025220.5(ADAM33):c.2045A>C (p.Lys682Thr)	ADAM33 (K682T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554225	NM_025220.5(ADAM33):c.1981G>T (p.Gly661Trp)	ADAM33 (G661W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2305578	NM_025220.5(ADAM33):c.1820G>A (p.Arg607Gln)	ADAM33 (R607Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310776	NM_025220.5(ADAM33):c.1819C>T (p.Arg607Trp)	ADAM33 (R607W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 769071	NM_025220.5(ADAM33):c.1768A>G (p.Met590Val)	ADAM33 (M590V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3145795	NM_025220.5(ADAM33):c.1741G>A (p.Gly581Arg)	ADAM33 (G581R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275513	NM_025220.5(ADAM33):c.1684C>G (p.His562Asp)	ADAM33 (H562D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388121	NM_025220.5(ADAM33):c.1677C>G (p.Ser559Arg)	ADAM33 (S559R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373583	NM_025220.5(ADAM33):c.1676G>T (p.Ser559Ile)	ADAM33 (S559I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512385	NM_025220.5(ADAM33):c.1619C>T (p.Ala540Val)	ADAM33 (A540V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145776	NM_025220.5(ADAM33):c.1615G>A (p.Glu539Lys)	ADAM33 (E539K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145771	NM_025220.5(ADAM33):c.1583A>T (p.Gln528Leu)	ADAM33 (Q528L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614108	NM_025220.5(ADAM33):c.1572G>C (p.Gln524His)	ADAM33 (Q524H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465422	NM_025220.5(ADAM33):c.1558C>T (p.Pro520Ser)	ADAM33 (P520S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 785649	NM_025220.5(ADAM33):c.1543T>C (p.Trp515Arg)	ADAM33 (W515R)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2235344	NM_025220.5(ADAM33):c.1517C>G (p.Pro506Arg)	ADAM33 (P506R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553396	NM_025220.5(ADAM33):c.1516C>A (p.Pro506Thr)	ADAM33 (P506T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364262	NM_025220.5(ADAM33):c.1505T>C (p.Leu502Pro)	ADAM33 (L502P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 769072	NM_025220.5(ADAM33):c.1497T>A (p.Val499=)	ADAM33	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3145752	NM_025220.5(ADAM33):c.1436T>C (p.Met479Thr)	ADAM33 (M479T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 769073	NM_025220.5(ADAM33):c.1402-7_1402-3del	ADAM33	Deletion (intron variant)	not provided	GBenign
Select item 2510582	NM_025220.5(ADAM33):c.1372G>A (p.Ala458Thr)	ADAM33 (A458T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 778877	NM_025220.5(ADAM33):c.1362G>A (p.Gly454=)	ADAM33	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3145745	NM_025220.5(ADAM33):c.1318C>G (p.Arg440Gly)	ADAM33 (R440G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344678	NM_025220.5(ADAM33):c.1286A>G (p.Glu429Gly)	ADAM33 (E429G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2652175	NM_025220.5(ADAM33):c.1260C>T (p.Cys420=)	ADAM33	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3145743	NM_025220.5(ADAM33):c.1258T>C (p.Cys420Arg)	ADAM33 (C420R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304845	NM_025220.5(ADAM33):c.1256T>C (p.Leu419Pro)	ADAM33 (L419P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602389	NM_025220.5(ADAM33):c.1255C>T (p.Leu419Phe)	ADAM33 (L419F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266084	NM_025220.5(ADAM33):c.1225C>G (p.Pro409Ala)	ADAM33 (P409A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 221543	GRCh38/hg38 20p13(chr20:3672810-3673617)x1	ADAM33	Copy number loss	Breast ductal adenocarcinoma	GUncertain significance
Select item 2547203	NM_025220.5(ADAM33):c.1202G>A (p.Gly401Asp)	ADAM33 (G401D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145725	NM_025220.5(ADAM33):c.1198G>C (p.Gly400Arg)	ADAM33 (G400R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484546	NM_025220.5(ADAM33):c.1198G>T (p.Gly400Trp)	ADAM33 (G400W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320309	NM_025220.5(ADAM33):c.1193G>T (p.Arg398Leu)	ADAM33 (R398L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 717744	NM_025220.5(ADAM33):c.1184C>T (p.Ala395Val)	ADAM33 (A395V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3266063	NM_025220.5(ADAM33):c.1051C>T (p.Leu351Phe)	ADAM33 (L351F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535186	NM_025220.5(ADAM33):c.1048A>G (p.Ser350Gly)	ADAM33 (S350G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243482	NM_025220.5(ADAM33):c.977G>A (p.Gly326Glu)	ADAM33 (G326E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544443	NM_025220.5(ADAM33):c.913G>A (p.Ala305Thr)	ADAM33 (A305T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484955	NM_025220.5(ADAM33):c.875A>G (p.Gln292Arg)	ADAM33 (Q292R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2227369	NM_025220.5(ADAM33):c.866T>C (p.Leu289Pro)	ADAM33 (L289P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266044	NM_025220.5(ADAM33):c.796C>T (p.Arg266Trp)	ADAM33 (R266W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550659	NM_025220.5(ADAM33):c.749C>T (p.Thr250Ile)	ADAM33 (T250I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145848	NM_025220.5(ADAM33):c.721G>A (p.Ala241Thr)	ADAM33 (A241T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145845	NM_025220.5(ADAM33):c.608G>A (p.Arg203Gln)	ADAM33 (R203Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335808	NM_025220.5(ADAM33):c.601G>A (p.Gly201Ser)	ADAM33 (G201S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266052	NM_025220.5(ADAM33):c.503G>A (p.Arg168Gln)	ADAM33 (R168Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145834	NM_025220.5(ADAM33):c.373G>A (p.Asp125Asn)	ADAM33 (D125N)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 717578	NM_025220.5(ADAM33):c.326A>G (p.Asn109Ser)	ADAM33 (N109S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2232439	NM_025220.5(ADAM33):c.238G>C (p.Glu80Gln)	ADAM33 (E80Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266073	NM_025220.5(ADAM33):c.155G>A (p.Arg52His)	ADAM33 (R52H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3248364	NC_000020.10:g.(?_2361615)_(3903941_?)dup	ADAM33, ADISSP +36 more	Duplication	not provided	GUncertain significance
Select item 3248273	NC_000020.10:g.(?_3190198)_(6760201_?)del	ADAM33, ADISSP +35 more	Deletion	Inosine triphosphatase deficiency	GPathogenic
Select item 3062409	GRCh37/hg19 20p13(chr20:2640674-4323312)x3	OXT, PANK2 +33 more	Copy number gain	not specified	GUncertain significance
Select item 3024619	GRCh37/hg19 20p13-11.21(chr20:68351-23860313)x3	RAD21L1, RALGAPA2 +164 more	Copy number gain	not provided	GPathogenic
Select item 3024618	GRCh37/hg19 20p13-12.1(chr20:68351-16142323)x3	SIRPB2, SIRPD +114 more	Copy number gain	not provided	GPathogenic
Select item 2684899	GRCh37/hg19 20p13-12.2(chr20:61569-9542361)x3	ADAM33, ADISSP +100 more	Copy number gain	not provided	GPathogenic
Select item 2446383	GRCh37/hg19 20p13-12.3(chr20:3034557-5524417)x1	MAVS, OXT +36 more	Copy number loss	See cases	GLikely pathogenic
Select item 2426797	NC_000020.10:g.(?_3063276)_(3903941_?)del	ADAM33, ADISSP +19 more	Deletion	not provided	GPathogenic
Select item 2422855	NC_000020.10:g.(?_1959939)_(6760201_?)dup	ADAM33, ADISSP +60 more	Duplication	Pigmentary pallidal degeneration +1 more	GUncertain significance
Select item 1706505	GRCh37/hg19 20p13(chr20:2802218-4010802)x3	SPEF1, UBOX5 +26 more	Copy number gain	See cases	GUncertain significance
Select item 1703638	GRCh37/hg19 20p13-12.2(chr20:3178539-11848383)	ADAM33, ADRA1D +47 more	Copy number loss	20p12.3 microdeletion syndrome	GPathogenic
Select item 1054510	NC_000020.10:g.(?_3190178)_(3903961_?)dup	DNAAF9, GFRA4 +14 more	Duplication	Inosine triphosphatase deficiency	GUncertain significance
Select item 979728	GRCh37/hg19 20p13(chr20:3116478-4199486)x3	FASTKD5, CDC25B +20 more	Copy number gain	not provided	GUncertain significance
Select item 979727	GRCh37/hg19 20p13(chr20:3092739-4939933)x3	CDC25B, ADAM33 +25 more	Copy number gain	not provided	GUncertain significance
Select item 979576	GRCh37/hg19 20p13(chr20:2802218-4010802)x3	OXT, LZTS3 +26 more	Copy number gain	not provided	GUncertain significance
Select item 816106	GRCh37/hg19 20p13(chr20:2806498-4007381)x1	CDC25B, AVP +26 more	Copy number loss	not provided	GUncertain significance
Select item 816102	GRCh37/hg19 20p13-11.1(chr20:61568-26305479)x3	ABHD12, ACSS1 +177 more	Copy number gain	not provided	GPathogenic
Select item 686194	GRCh37/hg19 20p13(chr20:3654723-3796884)x3	ADAM33, C20orf27 +5 more	Copy number gain	not provided	GUncertain significance
Select item 564645	GRCh37/hg19 20p13-12.1(chr20:3092739-17091453)x1	FERMT1, SPTLC3 +62 more	Copy number loss	not provided	GPathogenic
Select item 443885	GRCh37/hg19 20p13-12.3(chr20:2463101-8185680)x1	ADAM33, ADISSP +58 more	Copy number loss	See cases	GPathogenic

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