Related gene-specific medical variations for Gene (Select 317648) - ClinVar

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

Links from Gene

Items: 52

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3300357	NM_001291978.2(NOP14):c.1297G>A (p.Glu433Lys)	NOP14, NOP14-AS1 (E433K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300354	NM_001291978.2(NOP14):c.1424G>T (p.Gly475Val)	LOC126806948, NOP14 +1 more (G475V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300351	NM_001291978.2(NOP14):c.1663C>G (p.Leu555Val)	NOP14, NOP14-AS1 (L555V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300350	NM_001291978.2(NOP14):c.2506C>G (p.Leu836Val)	NOP14, NOP14-AS1 (L836V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3300349	NM_001291978.2(NOP14):c.2258T>C (p.Leu753Pro)	NOP14, NOP14-AS1 (L753P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300348	NM_001291978.2(NOP14):c.2268G>C (p.Glu756Asp)	NOP14, NOP14-AS1 (E756D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300347	NM_001291978.2(NOP14):c.1879A>C (p.Lys627Gln)	NOP14, NOP14-AS1 (K627Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300346	NM_001291978.2(NOP14):c.1878C>G (p.Asn626Lys)	NOP14, NOP14-AS1 (N626K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300344	NM_001291978.2(NOP14):c.2284C>T (p.Pro762Ser)	NOP14, NOP14-AS1 (P762S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300343	NM_001291978.2(NOP14):c.1156G>A (p.Val386Met)	NOP14, NOP14-AS1 (V386M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300342	NM_001291978.2(NOP14):c.1130A>T (p.Asp377Val)	NOP14, NOP14-AS1 (D377V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201194	NM_001291978.2(NOP14):c.2469G>A (p.Met823Ile)	NOP14, NOP14-AS1 (M823I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3201193	NM_001291978.2(NOP14):c.2392C>T (p.Arg798Cys)	NOP14, NOP14-AS1 (R798C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3201192	NM_001291978.2(NOP14):c.2090G>A (p.Arg697His)	NOP14, NOP14-AS1 (R697H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201191	NM_001291978.2(NOP14):c.2015T>A (p.Leu672Gln)	NOP14, NOP14-AS1 (L672Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201188	NM_001291978.2(NOP14):c.1384C>G (p.Leu462Val)	NOP14, NOP14-AS1 (L462V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201187	NM_001291978.2(NOP14):c.1357A>G (p.Arg453Gly)	NOP14, NOP14-AS1 (R453G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201186	NM_001291978.2(NOP14):c.1255A>G (p.Arg419Gly)	NOP14, NOP14-AS1 (R419G)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3201185	NM_001291978.2(NOP14):c.1252A>G (p.Thr418Ala)	NOP14, NOP14-AS1 (T418A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3201184	NM_001291978.2(NOP14):c.1151C>G (p.Ser384Cys)	NOP14, NOP14-AS1 (S384C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201183	NM_001291978.2(NOP14):c.1099G>C (p.Gly367Arg)	NOP14, NOP14-AS1 (G367R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3024912	NM_001291978.2(NOP14):c.1478C>G (p.Thr493Arg)	LOC126806948, NOP14 +1 more (T493R)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2600339	NM_001291978.2(NOP14):c.1733C>T (p.Thr578Ile)	NOP14, NOP14-AS1 (T578I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594410	NM_001291978.2(NOP14):c.2102T>C (p.Met701Thr)	NOP14, NOP14-AS1 (M701T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2570070	NM_001291978.2(NOP14):c.1121A>G (p.Asp374Gly)	NOP14, NOP14-AS1 (D374G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540920	NM_001291978.2(NOP14):c.1099G>A (p.Gly367Arg)	NOP14, NOP14-AS1 (G367R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2496125	NM_001291978.2(NOP14):c.1741C>T (p.Pro581Ser)	NOP14-AS1, NOP14 (P581S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482706	NM_001291978.2(NOP14):c.2401A>G (p.Lys801Glu)	NOP14, NOP14-AS1 (K801E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2454826	NM_001291978.2(NOP14):c.1105G>A (p.Asp369Asn)	NOP14, NOP14-AS1 (D369N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2412308	NM_001291978.2(NOP14):c.1610G>A (p.Arg537Gln)	NOP14, NOP14-AS1 (R537Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399796	NM_001291978.2(NOP14):c.2245C>T (p.Leu749Phe)	NOP14, NOP14-AS1 (L749F)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2396961	NM_001291978.2(NOP14):c.2251C>T (p.Arg751Trp)	NOP14, NOP14-AS1 (R751W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385076	NM_001291978.2(NOP14):c.1919C>T (p.Ala640Val)	NOP14, NOP14-AS1 (A640V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376672	NM_001291978.2(NOP14):c.1031T>G (p.Val344Gly)	NOP14, NOP14-AS1 (V344G)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 2374239	NM_001291978.2(NOP14):c.1379C>T (p.Pro460Leu)	NOP14, NOP14-AS1 (P460L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356191	NM_001291978.2(NOP14):c.2491C>T (p.Arg831Trp)	NOP14, NOP14-AS1 (R831W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2354306	NM_001291978.2(NOP14):c.2323G>A (p.Glu775Lys)	NOP14, NOP14-AS1 (E775K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2345261	NM_001291978.2(NOP14):c.2480C>T (p.Ala827Val)	NOP14, NOP14-AS1 (A827V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2344827	NM_001291978.2(NOP14):c.1571C>G (p.Ala524Gly)	NOP14, NOP14-AS1 (A524G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334722	NM_001291978.2(NOP14):c.1658G>A (p.Gly553Glu)	NOP14-AS1, NOP14 (G553E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323262	NM_001291978.2(NOP14):c.1228G>A (p.Gly410Ser)	NOP14, NOP14-AS1 (G410S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284714	NM_001291978.2(NOP14):c.1397A>T (p.Asn466Ile)	NOP14, NOP14-AS1 (N466I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279513	NM_001291978.2(NOP14):c.2134A>G (p.Met712Val)	NOP14, NOP14-AS1 (M712V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2264324	NM_001291978.2(NOP14):c.1229G>T (p.Gly410Val)	NOP14, NOP14-AS1 (G410V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259692	NM_001291978.2(NOP14):c.1107C>G (p.Asp369Glu)	NOP14, NOP14-AS1 (D369E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259691	NM_001291978.2(NOP14):c.1106A>G (p.Asp369Gly)	NOP14, NOP14-AS1 (D369G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258571	NM_001291978.2(NOP14):c.2422C>T (p.Arg808Cys)	NOP14, NOP14-AS1 (R808C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2257905	NM_001291978.2(NOP14):c.2492G>A (p.Arg831Gln)	NOP14, NOP14-AS1 (R831Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2253117	NM_001291978.2(NOP14):c.2185C>G (p.Pro729Ala)	NOP14, NOP14-AS1 (P729A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248927	NM_001291978.2(NOP14):c.2273G>C (p.Ser758Thr)	NOP14, NOP14-AS1 (S758T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210305	NM_001291978.2(NOP14):c.2224G>A (p.Glu742Lys)	NOP14, NOP14-AS1 (E742K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 731089	NM_001291978.2(NOP14):c.2323G>C (p.Glu775Gln)	NOP14, NOP14-AS1 (E775Q)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 52