ClinVar for Gene (Select 64434) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3300315	NM_138400.2(NOM1):c.1711G>C (p.Val571Leu)	NOM1 (V572L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300314	NM_138400.2(NOM1):c.1612G>C (p.Glu538Gln)	NOM1 (E538Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300312	NM_138400.2(NOM1):c.2210A>G (p.Glu737Gly)	NOM1 (E737G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300311	NM_138400.2(NOM1):c.994T>C (p.Cys332Arg)	NOM1 (C333R +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3300310	NM_138400.2(NOM1):c.245G>C (p.Arg82Pro)	NOM1 (R82P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300309	NM_138400.2(NOM1):c.2491G>T (p.Ala831Ser)	NOM1 (A831S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300308	NM_138400.2(NOM1):c.1348G>A (p.Asp450Asn)	NOM1 (D450N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300307	NM_138400.2(NOM1):c.230G>A (p.Gly77Glu)	NOM1 (G77E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300306	NM_138400.2(NOM1):c.1817C>T (p.Thr606Met)	NOM1 (T606M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300305	NM_138400.2(NOM1):c.589A>C (p.Lys197Gln)	NOM1 (K197Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300304	NM_138400.2(NOM1):c.1183G>T (p.Asp395Tyr)	NOM1 (D395Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300303	NM_138400.2(NOM1):c.832G>T (p.Ala278Ser)	NOM1 (A278S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300301	NM_138400.2(NOM1):c.2345G>A (p.Arg782Gln)	NOM1 (R783Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201141	NM_138400.2(NOM1):c.959C>T (p.Ser320Phe)	NOM1 (S320F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201140	NM_138400.2(NOM1):c.94C>T (p.Arg32Cys)	NOM1 (R32C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201139	NM_138400.2(NOM1):c.920G>A (p.Arg307Lys)	NOM1 (R307K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201137	NM_138400.2(NOM1):c.736C>T (p.Leu246Phe)	NOM1 (L246F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201136	NM_138400.2(NOM1):c.614G>T (p.Ser205Ile)	NOM1 (S205I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201134	NM_138400.2(NOM1):c.437C>A (p.Pro146Gln)	NOM1 (P146Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201133	NM_138400.2(NOM1):c.352G>A (p.Glu118Lys)	LOC129999733, NOM1 (E118K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201132	NM_138400.2(NOM1):c.329T>C (p.Leu110Pro)	NOM1 (L110P)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3201131	NM_138400.2(NOM1):c.311C>G (p.Pro104Arg)	NOM1 (P104R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201130	NM_138400.2(NOM1):c.2566G>A (p.Ala856Thr)	NOM1 (A857T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201129	NM_138400.2(NOM1):c.2459T>A (p.Phe820Tyr)	NOM1 (F821Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201128	NM_138400.2(NOM1):c.244C>T (p.Arg82Cys)	NOM1 (R82C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201127	NM_138400.2(NOM1):c.2276C>T (p.Ser759Leu)	NOM1 (S759L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201126	NM_138400.2(NOM1):c.205G>C (p.Gly69Arg)	NOM1 (G69R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201125	NM_138400.2(NOM1):c.1960G>C (p.Asp654His)	NOM1 (D655H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201124	NM_138400.2(NOM1):c.195C>G (p.Cys65Trp)	NOM1 (C65W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201123	NM_138400.2(NOM1):c.1913T>C (p.Val638Ala)	NOM1 (V638A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201122	NM_138400.2(NOM1):c.1873A>G (p.Ser625Gly)	NOM1 (S625G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201121	NM_138400.2(NOM1):c.1781G>A (p.Arg594His)	NOM1 (R595H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201120	NM_138400.2(NOM1):c.1757G>A (p.Gly586Asp)	NOM1 (G587D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201119	NM_138400.2(NOM1):c.1547A>G (p.Asp516Gly)	NOM1 (D517G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201118	NM_138400.2(NOM1):c.1172A>G (p.His391Arg)	NOM1 (H392R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201117	NM_138400.2(NOM1):c.1078A>G (p.Arg360Gly)	NOM1 (R360G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3148948	GRCh37/hg19 7q34-36.3(chr7:141690279-159119707)x3	ABCB8, ABCF2 +125 more	Copy number gain	See cases	GPathogenic
Select item 3062984	GRCh37/hg19 7q33-36.3(chr7:137456457-159119707)x3	ABCB8, ABCF2 +165 more	Copy number gain	not specified	GPathogenic
Select item 3062957	GRCh37/hg19 7q36.3(chr7:155607058-159119707)x1	DNAJB6, DYNC2I1 +9 more	Copy number loss	not specified	GPathogenic
Select item 2685274	GRCh37/hg19 7q35-36.3(chr7:144940098-159119707)x1	INSIG1, PDIA4 +80 more	Copy number loss	not provided	GPathogenic
Select item 2685272	GRCh37/hg19 7q34-36.3(chr7:142099013-159119707)x1	CLCN1, RHEB +123 more	Copy number loss	not provided	GPathogenic
Select item 2685271	GRCh37/hg19 7q33-36.3(chr7:135639005-159119707)x1	ARHGEF35, KEL +169 more	Copy number loss	not provided	GPathogenic
Select item 2619673	NM_138400.2(NOM1):c.1142G>C (p.Ser381Thr)	NOM1 (S381T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2618984	NM_138400.2(NOM1):c.2038G>A (p.Gly680Arg)	NOM1 (G680R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615000	NM_138400.2(NOM1):c.406C>G (p.Arg136Gly)	NOM1 (R136G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608434	NM_138400.2(NOM1):c.1751A>G (p.Asn584Ser)	NOM1 (N585S +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2579275	GRCh38/hg38 7q36.2-36.3(chr7:154446117-159206757)x1	BLACE, CNPY1 +193 more	Copy number loss	Holoprosencephaly 3	GPathogenic
Select item 2579171	GRCh38/hg38 7q34-36.3(chr7:138620939-159233475)x3	LOC129999716, LOC129999717 +847 more	Copy number gain	Neurodevelopmental disorder	GLikely pathogenic
Select item 2579170	GRCh38/hg38 7q33-36.3(chr7:137463392-159345973)x3	EPHA1-AS1, EPHB6 +888 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 2550291	NM_138400.2(NOM1):c.2386G>T (p.Asp796Tyr)	NOM1 (D796Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548792	NM_138400.2(NOM1):c.1913T>A (p.Val638Asp)	NOM1 (V639D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547244	NM_138400.2(NOM1):c.1808C>T (p.Ala603Val)	NOM1 (A603V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545719	NM_138400.2(NOM1):c.5C>T (p.Ala2Val)	LOC129999732, NOM1 (A2V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538432	NM_138400.2(NOM1):c.1748G>A (p.Arg583His)	NOM1 (R584H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523976	NM_138400.2(NOM1):c.2044A>C (p.Lys682Gln)	NOM1 (K683Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512070	NM_138400.2(NOM1):c.377C>T (p.Thr126Met)	LOC129999733, NOM1 (T126M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494458	NM_138400.2(NOM1):c.2549A>G (p.Lys850Arg)	NOM1 (K851R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492320	NM_138400.2(NOM1):c.730C>A (p.Gln244Lys)	NOM1 (Q244K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472225	NM_138400.2(NOM1):c.151G>A (p.Glu51Lys)	NOM1 (E51K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464087	NM_138400.2(NOM1):c.479C>A (p.Thr160Asn)	NOM1 (T160N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463118	NM_138400.2(NOM1):c.1433T>C (p.Val478Ala)	NOM1 (V478A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459123	NM_138400.2(NOM1):c.622C>T (p.Pro208Ser)	NOM1 (P208S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456115	NM_138400.2(NOM1):c.1756G>A (p.Gly586Ser)	NOM1 (G586S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2422565	NC_000007.13:g.(?_152617597)_(158500659_?)del	INSIG1, LMBR1 +13 more	Deletion	not provided	GPathogenic
Select item 2411962	NM_138400.2(NOM1):c.1567G>C (p.Glu523Gln)	NOM1 (E523Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407790	NM_138400.2(NOM1):c.617C>T (p.Ser206Phe)	NOM1 (S206F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402960	NM_138400.2(NOM1):c.804A>T (p.Glu268Asp)	NOM1 (E268D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398256	NM_138400.2(NOM1):c.508G>A (p.Ala170Thr)	NOM1 (A170T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393299	NM_138400.2(NOM1):c.976A>G (p.Ile326Val)	NOM1 (I326V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2372798	NM_138400.2(NOM1):c.2546C>T (p.Thr849Met)	NOM1 (T849M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372631	NM_138400.2(NOM1):c.853G>A (p.Glu285Lys)	NOM1 (E285K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350822	NM_138400.2(NOM1):c.34C>T (p.Pro12Ser)	LOC129999732, NOM1 (P12S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341468	NM_138400.2(NOM1):c.1949G>A (p.Arg650Lys)	NOM1 (R650K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322596	NM_138400.2(NOM1):c.208G>A (p.Ala70Thr)	NOM1 (A70T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317038	NM_138400.2(NOM1):c.1946A>T (p.Gln649Leu)	NOM1 (Q650L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316960	NM_138400.2(NOM1):c.1850G>A (p.Ser617Asn)	NOM1 (S618N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313624	NM_138400.2(NOM1):c.373G>A (p.Asp125Asn)	LOC129999733, NOM1 (D125N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293058	NM_138400.2(NOM1):c.164C>T (p.Ala55Val)	NOM1 (A55V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278675	NM_138400.2(NOM1):c.1637G>A (p.Arg546Gln)	NOM1 (R547Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276978	NM_138400.2(NOM1):c.742G>A (p.Glu248Lys)	NOM1 (E248K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270185	NM_138400.2(NOM1):c.1867G>A (p.Asp623Asn)	NOM1 (D624N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269209	NM_138400.2(NOM1):c.1507T>G (p.Leu503Val)	NOM1 (L504V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260621	NM_138400.2(NOM1):c.82C>A (p.Arg28Ser)	NOM1 (R28S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257862	NM_138400.2(NOM1):c.2217G>C (p.Leu739Phe)	NOM1 (L740F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257331	NM_138400.2(NOM1):c.907A>T (p.Arg303Trp)	NOM1 (R303W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255524	NM_138400.2(NOM1):c.1795A>C (p.Ser599Arg)	NOM1 (S600R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252758	NM_138400.2(NOM1):c.1689T>G (p.Ile563Met)	NOM1 (I564M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247127	NM_138400.2(NOM1):c.2427G>C (p.Lys809Asn)	NOM1 (K810N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247029	NM_138400.2(NOM1):c.61C>A (p.Arg21Ser)	LOC129999732, NOM1 (R21S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242443	NM_138400.2(NOM1):c.535A>G (p.Asn179Asp)	NOM1 (N179D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240512	NM_138400.2(NOM1):c.502G>A (p.Ala168Thr)	NOM1 (A168T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232427	NM_138400.2(NOM1):c.1439C>T (p.Ser480Phe)	NOM1 (S481F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221037	NM_138400.2(NOM1):c.2484C>G (p.Asn828Lys)	NOM1 (N828K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211826	NM_138400.2(NOM1):c.1225G>A (p.Val409Ile)	NOM1 (V410I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1708459	GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1	AASS, ABCA13 +896 more	Copy number loss	See cases	GUncertain significance
Select item 1705937	GRCh37/hg19 7q36.3(chr7:155389460-157960969)x1	RBM33, DNAJB6 +7 more	Copy number loss	Microcephaly	GPathogenic
Select item 1703560	Single allele	CACNA2D1, CADPS2 +896 more	Complex	Ring chromosome 7	GPathogenic
Select item 1436808	NC_000007.13:g.(?_155595594)_(157208792_?)dup	DNAJB6, LMBR1 +5 more	Duplication	Holoprosencephaly 3	GUncertain significance
Select item 1341986	GRCh37/hg19 7q36.1-36.3(chr7:149062717-159124131)x1	ACTR3C, AGAP3 +65 more	Copy number loss	not provided	GPathogenic
Select item 1341970	GRCh37/hg19 7q35-36.3(chr7:146927174-159128556)x3	CUL1, DNAJB6 +80 more	Copy number gain	not provided	GPathogenic

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