30714[HGNC] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 141

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155358	GRCh38/hg38 16q12.2-24.3(chr16:52899183-90088654)x3	MIR138-2, MIR140 +1738 more	Copy number gain	See cases	GPathogenic
Select item 146601	GRCh38/hg38 16q21-24.1(chr16:62925929-84585795)x3	AARS1, ACD +939 more	Copy number gain	See cases	GPathogenic
Select item 154511	GRCh38/hg38 16q21-24.3(chr16:64389378-90081985)x3	LOC130059829, LOC130059830 +1429 more	Copy number gain	See cases	GPathogenic
Select item 58645	GRCh38/hg38 16q21-24.3(chr16:65313395-90081985)x3	LOC108281164, LOC109029536 +1426 more	Copy number gain	See cases	GPathogenic
Select item 150599	GRCh38/hg38 16q21-24.3(chr16:65511483-90096995)x3	LOC130059834, LOC130059835 +1424 more	Copy number gain	See cases	GPathogenic
Select item 144332	GRCh38/hg38 16q22.1-24.1(chr16:70414573-84908120)x1	ADAD2, ADAMTS18 +591 more	Copy number loss	See cases	GPathogenic
Select item 58646	GRCh38/hg38 16q22.1-24.3(chr16:70514631-90081985)x3	LOC130059850, LOC130059851 +1041 more	Copy number gain	See cases	GPathogenic
Select item 148421	GRCh38/hg38 16q22.1-24.3(chr16:70749398-90096995)x3	PKD1L2, PKD1L3 +1031 more	Copy number gain	See cases	GPathogenic
Select item 150450	GRCh38/hg38 16q23.1-24.3(chr16:75377981-90081992)x3	LOC130059772, LOC130059773 +832 more	Copy number gain	See cases	GPathogenic
Select item 153239	GRCh38/hg38 16q23.1-24.3(chr16:76336203-90088654)x3	LOC132090418, LOC132090419 +788 more	Copy number gain	See cases	GPathogenic
Select item 58647	GRCh38/hg38 16q23.1-24.3(chr16:76873569-90081985)x3	ACSF3, ADAD2 +781 more	Copy number gain	See cases	GPathogenic
Select item 59517	GRCh38/hg38 16q23.1-24.2(chr16:78704275-87819342)x1	LOC130059506, LOC130059507 +447 more	Copy number loss	See cases	GPathogenic
Select item 57187	GRCh38/hg38 16q23.1-24.3(chr16:78816291-90081985)x3	LOC130059746, LOC130059747 +719 more	Copy number gain	See cases	GPathogenic
Select item 154631	GRCh38/hg38 16q23.2-24.3(chr16:80067315-90057871)x3	LOC130059500, LOC130059501 +691 more	Copy number gain	See cases	GPathogenic
Select item 152591	GRCh38/hg38 16q23.2-24.3(chr16:80717291-90096662)x3	LOC132090448, LOC132090449 +677 more	Copy number gain	See cases	GPathogenic
Select item 147748	GRCh38/hg38 16q23.2-24.3(chr16:80946659-90081985)x3	LOC130059591, LOC130059592 +670 more	Copy number gain	See cases	GPathogenic
Select item 59518	GRCh38/hg38 16q23.3-24.1(chr16:81753762-85714791)x1	ADAD2, ATP2C2 +211 more	Copy number loss	See cases	GPathogenic
Select item 58648	GRCh38/hg38 16q23.3-24.3(chr16:82173150-90081985)x3	LOC130059691, LOC130059692 +566 more	Copy number gain	See cases	GPathogenic
Select item 59519	GRCh38/hg38 16q23.3-24.1(chr16:83016872-85087809)x1	ADAD2, ATP2C2 +106 more	Copy number loss	See cases	GPathogenic
Select item 144447	GRCh38/hg38 16q23.3-24.1(chr16:83399060-84908120)x1	ADAD2, ATP2C2 +93 more	Copy number loss	See cases	GPathogenic
Select item 148918	GRCh38/hg38 16q23.3-24.3(chr16:83478453-89932910)x3	ACSF3, ADAD2 +531 more	Copy number gain	See cases	GLikely pathogenic
Select item 147286	GRCh38/hg38 16q23.3-24.1(chr16:83687650-86073240)x1	ADAD2, CIBAR2 +203 more	Copy number loss	See cases	GPathogenic
Select item 152236	GRCh38/hg38 16q23.3-24.1(chr16:83763804-84276472)x3	ADAD2, CDH13 +36 more	Copy number gain	See cases	GUncertain significance
Select item 150582	GRCh38/hg38 16q23.3-24.1(chr16:83763804-84558035)x1	ADAD2, ATP2C2 +55 more	Copy number loss	See cases	GUncertain significance
Select item 146470	GRCh38/hg38 16q23.3-24.1(chr16:83878992-84908120)x3	ADAD2, KCNG4 +80 more	Copy number gain	See cases	GUncertain significance
Select item 57422	GRCh38/hg38 16q23.3-24.2(chr16:83878992-87223838)x1	LOC130059603, LOC130059604 +227 more	Copy number loss	See cases	GPathogenic
Select item 146355	GRCh38/hg38 16q23.3-24.3(chr16:83988570-90081985)x3	ACSF3, ADAD2 +534 more	Copy number gain	See cases	GLikely pathogenic
Select item 147259	GRCh38/hg38 16q23.3-24.1(chr16:84063406-84404889)x3	ADAD2, ATP2C2 +20 more	Copy number gain	See cases	GBenign
Select item 2568476	NM_001145400.2(ADAD2):c.8C>T (p.Ser3Leu)	ADAD2 (S3L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361975	NM_001145400.2(ADAD2):c.13T>G (p.Ser5Ala)	ADAD2 (S5A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2394564	NM_001145400.2(ADAD2):c.20G>T (p.Gly7Val)	ADAD2 (G7V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2646917	NM_001145400.2(ADAD2):c.36C>T (p.Gly12=)	ADAD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3265132	NM_001145400.2(ADAD2):c.37A>G (p.Ser13Gly)	ADAD2 (S13G)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3143669	NM_001145400.2(ADAD2):c.59C>G (p.Ala20Gly)	ADAD2 (A20G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387628	NM_001145400.2(ADAD2):c.86C>G (p.Pro29Arg)	ADAD2 (P29R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253574	NM_001145400.2(ADAD2):c.89G>A (p.Arg30His)	ADAD2 (R30H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306285	NM_001145400.2(ADAD2):c.107C>T (p.Pro36Leu)	ADAD2 (P36L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600419	NM_001145400.2(ADAD2):c.122G>A (p.Ser41Asn)	ADAD2 (S41N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143522	NM_001145400.2(ADAD2):c.124G>T (p.Ala42Ser)	ADAD2 (A42S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143616	NM_001145400.2(ADAD2):c.203G>A (p.Gly68Glu)	ADAD2 (G68E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537497	NM_001145400.2(ADAD2):c.215G>A (p.Gly72Glu)	ADAD2 (G72E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143627	NM_001145400.2(ADAD2):c.221G>A (p.Gly74Glu)	ADAD2 (G74E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143630	NM_001145400.2(ADAD2):c.241G>A (p.Ala81Thr)	ADAD2 (A81T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143633	NM_001145400.2(ADAD2):c.244C>T (p.Arg82Trp)	ADAD2 (R82W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3265151	NM_001145400.2(ADAD2):c.259T>G (p.Leu87Val)	ADAD2 (L87V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406979	NM_001145400.2(ADAD2):c.298C>T (p.Pro100Ser)	ADAD2 (P100S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611003	NM_001145400.2(ADAD2):c.308G>T (p.Gly103Val)	ADAD2 (G103V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549922	NM_001145400.2(ADAD2):c.335C>T (p.Pro112Leu)	ADAD2 (P112L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211965	NM_001145400.2(ADAD2):c.362C>G (p.Thr121Arg)	ADAD2 (T121R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143649	NM_001145400.2(ADAD2):c.371C>A (p.Ala124Glu)	ADAD2 (A124E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143653	NM_001145400.2(ADAD2):c.419-409G>A	ADAD2, LOC654780 (G149E)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3143660	NM_001145400.2(ADAD2):c.419-376A>C	ADAD2, LOC654780 (Q160P)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2494002	NM_001145400.2(ADAD2):c.419-334G>A	ADAD2, LOC654780 (R174H)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2459209	NM_001145400.2(ADAD2):c.419-274C>T	ADAD2, LOC654780 (P194L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2404930	NM_001145400.2(ADAD2):c.419-262T>C	ADAD2, LOC654780 (I198T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2455282	NM_001145400.2(ADAD2):c.437C>T (p.Ser146Leu)	ADAD2, LOC126862424 +1 more (S218L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1244228	NM_001145400.2(ADAD2):c.515_516insA (p.Leu173fs)	ADAD2, LOC126862424 +1 more (L173fs +1 more)	Insertion (frameshift variant +1 more)	Non-obstructive azoospermia	GPathogenic
Select item 2322118	NM_001145400.2(ADAD2):c.530G>A (p.Cys177Tyr)	ADAD2, LOC126862424 +1 more (C249Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2516096	NM_001145400.2(ADAD2):c.538C>T (p.Arg180Trp)	ADAD2, LOC126862424 +1 more (R180W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2610850	NM_001145400.2(ADAD2):c.539G>A (p.Arg180Gln)	ADAD2, LOC126862424 +1 more (R180Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GLikely benign
Select item 2303436	NM_001145400.2(ADAD2):c.581G>A (p.Arg194Gln)	ADAD2, LOC126862424 +1 more (R194Q +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2533889	NM_001145400.2(ADAD2):c.593C>T (p.Ala198Val)	ADAD2, LOC126862424 +1 more (A270V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143697	NM_001145400.2(ADAD2):c.613A>C (p.Ile205Leu)	ADAD2, LOC126862424 +1 more (I205L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3265159	NM_001145400.2(ADAD2):c.637G>A (p.Ala213Thr)	ADAD2, LOC654780 +1 more (A285T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2392846	NM_001145400.2(ADAD2):c.655G>A (p.Gly219Ser)	ADAD2, LOC126862424 +1 more (G219S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3143718	NM_001145400.2(ADAD2):c.683C>T (p.Ser228Leu)	ADAD2, LOC126862424 +1 more (S300L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3265137	NM_001145400.2(ADAD2):c.734-22G>A	ADAD2, LOC126862424 +1 more (V320I)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2591952	NM_001145400.2(ADAD2):c.736A>C (p.Ile246Leu)	ADAD2, LOC126862424 +1 more (I246L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2342572	NM_001145400.2(ADAD2):c.740C>T (p.Pro247Leu)	ADAD2, LOC126862424 +1 more (P247L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3143499	NM_001145400.2(ADAD2):c.800G>A (p.Ser267Asn)	ADAD2, LOC126862424 +1 more (S267N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2288356	NM_001145400.2(ADAD2):c.802T>A (p.Cys268Ser)	ADAD2, LOC126862424 +1 more (C268S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3265147	NM_001145400.2(ADAD2):c.833A>T (p.Gln278Leu)	ADAD2, LOC126862424 +1 more (Q278L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2264472	NM_001145400.2(ADAD2):c.891G>C (p.Leu297Phe)	ADAD2, LOC654780 (L297F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143512	NM_001145400.2(ADAD2):c.892T>C (p.Phe298Leu)	ADAD2, LOC654780 (F298L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3265172	NM_001145400.2(ADAD2):c.894C>A (p.Phe298Leu)	ADAD2, LOC654780 (F298L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382091	NM_001145400.2(ADAD2):c.923G>A (p.Gly308Asp)	ADAD2, LOC654780 (G390D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3265144	NM_001145400.2(ADAD2):c.977C>T (p.Pro326Leu)	ADAD2, LOC654780 (P326L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386024	NM_001145400.2(ADAD2):c.1037C>T (p.Ala346Val)	ADAD2, LOC654780 (A428V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388067	NM_001145400.2(ADAD2):c.1043G>A (p.Arg348His)	ADAD2, LOC654780 (R348H +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2215551	NM_001145400.2(ADAD2):c.1064C>G (p.Thr355Ser)	ADAD2, LOC654780 (T437S +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2237319	NM_001145400.2(ADAD2):c.1086C>A (p.His362Gln)	ADAD2, LOC654780 (H362Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604826	NM_001145400.2(ADAD2):c.1094C>A (p.Pro365His)	ADAD2, LOC654780 (P365H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339790	NM_001145400.2(ADAD2):c.1133C>A (p.Pro378His)	ADAD2, LOC654780 (P460H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608463	NM_001145400.2(ADAD2):c.1187C>T (p.Ala396Val)	ADAD2, LOC654780 (A478V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530818	NM_001145400.2(ADAD2):c.1198C>G (p.Leu400Val)	ADAD2, LOC654780 (L482V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143560	NM_001145400.2(ADAD2):c.1225G>A (p.Gly409Ser)	ADAD2, LOC654780 (G409S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366495	NM_001145400.2(ADAD2):c.1297G>A (p.Asp433Asn)	ADAD2, LOC654780 (D515N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304530	NM_001145400.2(ADAD2):c.1300C>T (p.Pro434Ser)	ADAD2, LOC654780 (P434S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387457	NM_001145400.2(ADAD2):c.1378G>A (p.Val460Ile)	ADAD2, LOC654780 (V542I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593048	NM_001145400.2(ADAD2):c.1381C>T (p.Arg461Trp)	ADAD2, LOC654780 (R461W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143576	NM_001145400.2(ADAD2):c.1391T>C (p.Leu464Pro)	ADAD2, LOC654780 (L546P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389685	NM_001145400.2(ADAD2):c.1442C>G (p.Thr481Ser)	ADAD2, LOC654780 (T481S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143583	NM_001145400.2(ADAD2):c.1447C>G (p.Arg483Gly)	ADAD2, LOC654780 (R565G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411972	NM_001145400.2(ADAD2):c.1474G>C (p.Gly492Arg)	ADAD2, LOC654780 (G492R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401192	NM_001145400.2(ADAD2):c.1489G>A (p.Glu497Lys)	ADAD2, LOC654780 (E497K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275510	NM_001145400.2(ADAD2):c.1507A>C (p.Thr503Pro)	ADAD2, LOC654780 (T585P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244304	NM_001145400.2(ADAD2):c.1531G>A (p.Ala511Thr)	ADAD2, LOC654780 (A593T +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2351151	NM_001145400.2(ADAD2):c.1532C>T (p.Ala511Val)	ADAD2, LOC654780 (A511V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549921	NM_001145400.2(ADAD2):c.1574G>T (p.Arg525Leu)	ADAD2, LOC654780 (R525L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456281	NM_001145400.2(ADAD2):c.1613A>G (p.Tyr538Cys)	ADAD2, LOC654780 (Y538C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

<< First< Prev

Page of 2