19762[HGNC] - ClinVar - NCBI

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	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 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 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 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 58648	GRCh38/hg38 16q23.3-24.3(chr16:82173150-90081985)x3	LOC130059691, LOC130059692 +566 more	Copy number gain	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 146355	GRCh38/hg38 16q23.3-24.3(chr16:83988570-90081985)x3	ACSF3, ADAD2 +534 more	Copy number gain	See cases	GLikely pathogenic
Select item 150862	GRCh38/hg38 16q24.1-24.3(chr16:85552976-90096995)x3	ACSF3, ANKRD11 +420 more	Copy number gain	See cases	GPathogenic
Select item 155557	GRCh38/hg38 16q24.1-24.3(chr16:86950106-89335814)x1	ACSF3, ANKRD11 +210 more	Copy number loss	See cases	GPathogenic
Select item 2503467	Single allele	LOC121587566, LOC121587567 +218 more	Deletion	KBG syndrome	GPathogenic
Select item 59520	GRCh38/hg38 16q24.2-24.3(chr16:87306529-89269079)x1	ACSF3, ANKRD11 +196 more	Copy number loss	See cases	GPathogenic
Select item 149103	GRCh38/hg38 16q24.2-24.3(chr16:87848216-90096995)x3	ACSF3, ANKRD11 +268 more	Copy number gain	See cases	GLikely pathogenic
Select item 58651	GRCh38/hg38 16q24.2-24.3(chr16:87853401-90081985)x3	ACSF3, ANKRD11 +267 more	Copy number gain	See cases	GPathogenic
Select item 59521	GRCh38/hg38 16q24.2-24.3(chr16:88159660-89506042)x1	ACSF3, ANKRD11 +160 more	Copy number loss	See cases	GPathogenic
Select item 2503468	Single allele	LOC130059772, LOC130059773 +138 more	Deletion	KBG syndrome	GPathogenic
Select item 147550	GRCh38/hg38 16q24.2(chr16:88440499-88524205)x3	LOC112486222, LOC130059720 +12 more	Copy number gain	See cases	GBenign
Select item 1224704	NM_153813.3(ZFPM1):c.64A>G (p.Arg22Gly)	ZFPM1 (R22G)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3334544	NM_153813.3(ZFPM1):c.73G>A (p.Val25Met)	ZFPM1 (V25M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2255185	NM_153813.3(ZFPM1):c.86G>T (p.Gly29Val)	ZFPM1 (G29V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193260	NM_153813.3(ZFPM1):c.112A>C (p.Thr38Pro)	ZFPM1 (T38P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193263	NM_153813.3(ZFPM1):c.136C>A (p.Pro46Thr)	ZFPM1 (P46T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3334552	NM_153813.3(ZFPM1):c.142G>A (p.Ala48Thr)	ZFPM1 (A48T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2372230	NM_153813.3(ZFPM1):c.170C>T (p.Pro57Leu)	ZFPM1 (P57L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2646973	NM_153813.3(ZFPM1):c.171G>A (p.Pro57=)	ZFPM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 784346	NM_153813.3(ZFPM1):c.209G>C (p.Gly70Ala)	ZFPM1 (G70A)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2454927	NM_153813.3(ZFPM1):c.247G>A (p.Gly83Ser)	ZFPM1 (G83S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2646974	NM_153813.3(ZFPM1):c.282G>A (p.Pro94=)	ZFPM1, ZFPM1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2276401	NM_153813.3(ZFPM1):c.452C>T (p.Thr151Met)	ZFPM1, ZFPM1-AS1 (T151M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 786298	NM_153813.3(ZFPM1):c.477C>T (p.Ala159=)	ZFPM1, ZFPM1-AS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3193292	NM_153813.3(ZFPM1):c.511G>A (p.Ala171Thr)	ZFPM1, ZFPM1-AS1 (A171T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309587	NM_153813.3(ZFPM1):c.544G>A (p.Ala182Thr)	ZFPM1, ZFPM1-AS1 (A182T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544007	NM_153813.3(ZFPM1):c.562G>A (p.Val188Met)	ZFPM1, ZFPM1-AS1 (V188M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3334547	NM_153813.3(ZFPM1):c.565C>T (p.Leu189Phe)	ZFPM1, ZFPM1-AS1 (L189F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3334542	NM_153813.3(ZFPM1):c.572C>T (p.Thr191Met)	ZFPM1, ZFPM1-AS1 (T191M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372828	NM_153813.3(ZFPM1):c.577G>A (p.Glu193Lys)	ZFPM1, ZFPM1-AS1 (E193K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474476	NM_153813.3(ZFPM1):c.610A>G (p.Lys204Glu)	ZFPM1, ZFPM1-AS1 (K204E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484863	NM_153813.3(ZFPM1):c.620C>A (p.Ala207Glu)	ZFPM1, ZFPM1-AS1 (A207E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3025295	NM_153813.3(ZFPM1):c.699C>T (p.Thr233=)	ZFPM1, ZFPM1-AS1	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 3334543	NM_153813.3(ZFPM1):c.706A>G (p.Ile236Val)	ZFPM1, ZFPM1-AS1 (I236V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2281814	NM_153813.3(ZFPM1):c.757G>A (p.Glu253Lys)	ZFPM1 (E253K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193293	NM_153813.3(ZFPM1):c.800G>A (p.Arg267His)	ZFPM1 (R267H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590859	NM_153813.3(ZFPM1):c.811G>A (p.Gly271Ser)	ZFPM1 (G271S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193294	NM_153813.3(ZFPM1):c.827C>T (p.Ala276Val)	ZFPM1 (A276V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360373	NM_153813.3(ZFPM1):c.829G>A (p.Ala277Thr)	ZFPM1 (A277T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356219	NM_153813.3(ZFPM1):c.884C>A (p.Pro295His)	ZFPM1 (P295H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406392	NM_153813.3(ZFPM1):c.893G>A (p.Arg298His)	ZFPM1 (R298H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370230	NM_153813.3(ZFPM1):c.898A>G (p.Ser300Gly)	ZFPM1 (S300G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248256	NM_153813.3(ZFPM1):c.931A>G (p.Met311Val)	ZFPM1 (M311V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2646975	NM_153813.3(ZFPM1):c.1005C>T (p.Cys335=)	ZFPM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2229133	NM_153813.3(ZFPM1):c.1039A>T (p.Ser347Cys)	ZFPM1 (S347C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193259	NM_153813.3(ZFPM1):c.1054A>G (p.Ser352Gly)	ZFPM1 (S352G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616213	NM_153813.3(ZFPM1):c.1067T>G (p.Ile356Ser)	ZFPM1 (I356S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485209	NM_153813.3(ZFPM1):c.1094G>A (p.Ser365Asn)	ZFPM1 (S365N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362893	NM_153813.3(ZFPM1):c.1101G>C (p.Leu367Phe)	ZFPM1 (L367F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193261	NM_153813.3(ZFPM1):c.1162G>A (p.Gly388Arg)	ZFPM1 (G388R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595540	NM_153813.3(ZFPM1):c.1193G>A (p.Ser398Asn)	ZFPM1 (S398N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3334554	NM_153813.3(ZFPM1):c.1202G>C (p.Ser401Thr)	ZFPM1 (S401T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323787	NM_153813.3(ZFPM1):c.1243T>C (p.Ser415Pro)	ZFPM1 (S415P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193262	NM_153813.3(ZFPM1):c.1261G>A (p.Ala421Thr)	ZFPM1 (A421T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307375	NM_153813.3(ZFPM1):c.1262C>T (p.Ala421Val)	ZFPM1 (A421V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365033	NM_153813.3(ZFPM1):c.1273T>C (p.Ser425Pro)	ZFPM1 (S425P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314587	NM_153813.3(ZFPM1):c.1283T>A (p.Leu428Gln)	ZFPM1 (L428Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253349	NM_153813.3(ZFPM1):c.1285G>T (p.Asp429Tyr)	ZFPM1 (D429Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2619222	NM_153813.3(ZFPM1):c.1310C>T (p.Thr437Ile)	ZFPM1 (T437I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 981064	NM_153813.3(ZFPM1):c.1331_1333del (p.Glu444_Pro445delinsAla)	ZFPM1	Deletion (inframe_indel)	not specified	GUncertain significance
Select item 791649	NM_153813.3(ZFPM1):c.1332G>C (p.Glu444Asp)	ZFPM1 (E444D)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3193265	NM_153813.3(ZFPM1):c.1379G>A (p.Arg460Lys)	ZFPM1 (R460K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460339	NM_153813.3(ZFPM1):c.1400T>C (p.Val467Ala)	ZFPM1 (V467A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2405385	NM_153813.3(ZFPM1):c.1415C>T (p.Ala472Val)	ZFPM1 (A472V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350964	NM_153813.3(ZFPM1):c.1438G>A (p.Glu480Lys)	ZFPM1 (E480K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477560	NM_153813.3(ZFPM1):c.1481G>A (p.Ser494Asn)	ZFPM1 (S494N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374051	NM_153813.3(ZFPM1):c.1495A>G (p.Arg499Gly)	ZFPM1 (R499G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484283	NM_153813.3(ZFPM1):c.1504G>A (p.Ala502Thr)	ZFPM1 (A502T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304953	NM_153813.3(ZFPM1):c.1538C>A (p.Pro513Gln)	ZFPM1 (P513Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3334545	NM_153813.3(ZFPM1):c.1551G>C (p.Glu517Asp)	ZFPM1 (E517D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410544	NM_153813.3(ZFPM1):c.1565G>C (p.Gly522Ala)	ZFPM1 (G522A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353137	NM_153813.3(ZFPM1):c.1584G>C (p.Gln528His)	ZFPM1 (Q528H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2646976	NM_153813.3(ZFPM1):c.1596G>A (p.Gly532=)	ZFPM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2553701	NM_153813.3(ZFPM1):c.1630G>A (p.Ala544Thr)	ZFPM1 (A544T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193266	NM_153813.3(ZFPM1):c.1651C>T (p.His551Tyr)	ZFPM1 (H551Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411000	NM_153813.3(ZFPM1):c.1665G>C (p.Gln555His)	ZFPM1 (Q555H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313352	NM_153813.3(ZFPM1):c.1685C>G (p.Ala562Gly)	ZFPM1 (A562G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277779	NM_153813.3(ZFPM1):c.1690G>T (p.Gly564Cys)	ZFPM1 (G564C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3334553	NM_153813.3(ZFPM1):c.1694C>T (p.Ala565Val)	ZFPM1 (A565V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607812	NM_153813.3(ZFPM1):c.1717G>A (p.Ala573Thr)	ZFPM1 (A573T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364820	NM_153813.3(ZFPM1):c.1720C>T (p.Pro574Ser)	ZFPM1 (P574S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193267	NM_153813.3(ZFPM1):c.1792C>T (p.Leu598Phe)	ZFPM1 (L598F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466708	NM_153813.3(ZFPM1):c.1807C>G (p.Arg603Gly)	ZFPM1 (R603G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3334550	NM_153813.3(ZFPM1):c.1825G>C (p.Ala609Pro)	ZFPM1 (A609P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510881	NM_153813.3(ZFPM1):c.1835C>T (p.Ala612Val)	ZFPM1 (A612V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193268	NM_153813.3(ZFPM1):c.1852C>T (p.Pro618Ser)	ZFPM1 (P618S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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