ClinVar for Gene (Select 79050) - ClinVar

Links from Gene

Items: 95

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3200992	NM_024078.3(NOC4L):c.911T>C (p.Leu304Pro)	NOC4L (L213P +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3200991	NM_024078.3(NOC4L):c.893G>A (p.Cys298Tyr)	NOC4L (C207Y +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3200990	NM_024078.3(NOC4L):c.869T>C (p.Met290Thr)	NOC4L (M273T +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3200989	NM_024078.3(NOC4L):c.835G>A (p.Ala279Thr)	NOC4L (A273T +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3200988	NM_024078.3(NOC4L):c.778C>G (p.Leu260Val)	NOC4L (L260V +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3200987	NM_024078.3(NOC4L):c.665G>T (p.Arg222Leu)	NOC4L (R131L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3200986	NM_024078.3(NOC4L):c.621G>T (p.Trp207Cys)	NOC4L (W116C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3200985	NM_024078.3(NOC4L):c.515G>C (p.Arg172Pro)	NOC4L (R81P +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3200984	NM_024078.3(NOC4L):c.301A>C (p.Asn101His)	NOC4L (N101H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3200983	NM_024078.3(NOC4L):c.293G>A (p.Ser98Asn)	NOC4L (S7N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3200982	NM_024078.3(NOC4L):c.284G>A (p.Arg95His)	NOC4L (R4H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3200981	NM_024078.3(NOC4L):c.1414G>C (p.Glu472Gln)	NOC4L (E381Q +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3200980	NM_024078.3(NOC4L):c.1321C>T (p.Leu441Phe)	NOC4L (L421F +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3200978	NM_024078.3(NOC4L):c.1319C>T (p.Ala440Val)	NOC4L (A440V +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3200977	NM_024078.3(NOC4L):c.1264G>A (p.Glu422Lys)	NOC4L (E405K +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3200976	NM_024078.3(NOC4L):c.1213G>A (p.Val405Met)	NOC4L (V386M +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3200975	NM_024078.3(NOC4L):c.1195C>T (p.Pro399Ser)	NOC4L (P308S +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3200974	NM_024078.3(NOC4L):c.1036C>G (p.Arg346Gly)	NOC4L (R329G +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2684688	GRCh37/hg19 12q24.33(chr12:132523434-133055234)x3	DDX51, EP400 +2 more	Copy number gain	not provided	GUncertain significance
Select item 2684685	GRCh37/hg19 12q24.31-24.33(chr12:121551496-133777902)x3	AACS, ABCB9 +93 more	Copy number gain	not provided	GPathogenic
Select item 2684684	GRCh37/hg19 12q24.31-24.33(chr12:120880079-133777902)x3	AACS, ABCB9 +108 more	Copy number gain	not provided	GPathogenic
Select item 2643634	NM_024078.3(NOC4L):c.1350C>G (p.Ser450=)	NOC4L	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2643633	NM_024078.3(NOC4L):c.864G>A (p.Thr288=)	NOC4L	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2620719	NM_024078.3(NOC4L):c.1198G>C (p.Ala400Pro)	NOC4L (A394P +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2601329	NM_024078.3(NOC4L):c.1189C>T (p.Arg397Trp)	NOC4L (R378W +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2595274	NM_024078.3(NOC4L):c.955C>T (p.His319Tyr)	NOC4L (H228Y +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2593883	NM_024078.3(NOC4L):c.1468C>T (p.Pro490Ser)	NOC4L (P470S +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2592822	NM_024078.3(NOC4L):c.664C>T (p.Arg222Trp)	NOC4L (R203W +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2556152	NM_024078.3(NOC4L):c.1205G>A (p.Arg402Gln)	NOC4L (R383Q +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2532172	NM_024078.3(NOC4L):c.1120C>T (p.Arg374Cys)	NOC4L (R355C +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2528403	NM_024078.3(NOC4L):c.821T>A (p.Leu274Gln)	NOC4L (L255Q +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2521512	NM_024078.3(NOC4L):c.372G>C (p.Lys124Asn)	NOC4L (K124N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2519005	NM_024078.3(NOC4L):c.7C>T (p.Arg3Trp)	LOC130009247, NOC4L (R3W)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2466394	NM_024078.3(NOC4L):c.854C>T (p.Ala285Val)	NOC4L (A268V +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2425542	NC_000012.11:g.(?_132414268)_(133263901_?)dup	DDX51, EP400 +7 more	Duplication	Colorectal cancer, susceptibility to, 12	GUncertain significance
Select item 2412426	NM_024078.3(NOC4L):c.38C>G (p.Ala13Gly)	LOC130009247, NOC4L (A13G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403266	NM_024078.3(NOC4L):c.1120C>G (p.Arg374Gly)	NOC4L (R368G +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400768	NM_024078.3(NOC4L):c.1517G>C (p.Gly506Ala)	NOC4L (G415A +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396974	NM_024078.3(NOC4L):c.457G>T (p.Val153Leu)	NOC4L (V153L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388117	NM_024078.3(NOC4L):c.1037G>A (p.Arg346His)	NOC4L (R329H +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385874	NM_024078.3(NOC4L):c.747G>C (p.Arg249Ser)	NOC4L (R158S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383717	NM_024078.3(NOC4L):c.46C>G (p.Arg16Gly)	LOC130009247, NOC4L (R16G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376181	NM_024078.3(NOC4L):c.908C>T (p.Ala303Val)	NOC4L (A212V +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361190	NM_024078.3(NOC4L):c.568G>A (p.Asp190Asn)	NOC4L (D171N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355579	NM_024078.3(NOC4L):c.1510C>T (p.Arg504Trp)	NOC4L (R484W +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351438	NM_024078.3(NOC4L):c.1357G>A (p.Ala453Thr)	NOC4L (A434T +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346045	NM_024078.3(NOC4L):c.1495C>G (p.Gln499Glu)	NOC4L (Q480E +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343844	NM_024078.3(NOC4L):c.1105G>A (p.Ala369Thr)	NOC4L (A363T +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335304	NM_024078.3(NOC4L):c.863C>T (p.Thr288Met)	NOC4L (T197M +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334825	NM_024078.3(NOC4L):c.1438G>A (p.Glu480Lys)	NOC4L (E460K +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330157	NM_024078.3(NOC4L):c.1120C>A (p.Arg374Ser)	NOC4L (R368S +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326213	NM_024078.3(NOC4L):c.534C>G (p.Asp178Glu)	NOC4L (D159E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317059	NM_024078.3(NOC4L):c.1171A>C (p.Ile391Leu)	NOC4L (I371L +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314174	NM_024078.3(NOC4L):c.781A>G (p.Lys261Glu)	NOC4L (K170E +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302455	NM_024078.3(NOC4L):c.1373A>G (p.Gln458Arg)	NOC4L (Q438R +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297282	NM_024078.3(NOC4L):c.502C>G (p.Leu168Val)	NOC4L (L168V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281139	NM_024078.3(NOC4L):c.20C>T (p.Ala7Val)	LOC130009247, NOC4L (A7V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264511	NM_024078.3(NOC4L):c.662G>A (p.Arg221His)	NOC4L (R202H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260818	NM_024078.3(NOC4L):c.782A>G (p.Lys261Arg)	NOC4L (K261R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258844	NM_024078.3(NOC4L):c.1412T>C (p.Leu471Pro)	NOC4L (L452P +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257115	NM_024078.3(NOC4L):c.653G>A (p.Ser218Asn)	NOC4L (S218N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253514	NM_024078.3(NOC4L):c.1363G>A (p.Val455Ile)	NOC4L (V364I +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2227504	NM_024078.3(NOC4L):c.1469C>T (p.Pro490Leu)	NOC4L (P399L +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222047	NM_024078.3(NOC4L):c.845C>T (p.Pro282Leu)	NOC4L (P191L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215944	NM_024078.3(NOC4L):c.1033G>A (p.Ala345Thr)	NOC4L (A325T +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215701	NM_024078.3(NOC4L):c.410C>T (p.Ser137Phe)	NOC4L (S137F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1527747	GRCh37/hg19 12q24.33(chr12:131657203-133227428)	DDX51, EP400 +10 more	Copy number loss	not specified	GUncertain significance
Select item 1330196	GRCh37/hg19 12q24.22-24.33(chr12:117461902-133841395)x3	AACS, ABCB9 +135 more	Copy number gain	Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures	GLikely pathogenic
Select item 981003	GRCh37/hg19 12q24.33(chr12:132533753-132858201)x3	DDX51, EP400 +1 more	Copy number gain	not provided	GUncertain significance
Select item 981002	GRCh37/hg19 12q24.33(chr12:132382041-132887378)x3	DDX51, EP400 +3 more	Copy number gain	not provided	GUncertain significance
Select item 980998	GRCh37/hg19 12q24.33(chr12:132441175-132927328)x3	DDX51, EP400 +1 more	Copy number gain	not provided	GLikely benign
Select item 689028	GRCh37/hg19 12q24.33(chr12:132382041-132975645)x3	DDX51, EP400 +3 more	Copy number gain	not provided	GUncertain significance
Select item 688011	GRCh37/hg19 12q24.32-24.33(chr12:126470636-133777902)x1	ADGRD1, ANKLE2 +32 more	Copy number loss	not provided	GUncertain significance
Select item 687783	GRCh37/hg19 12q24.33(chr12:132523489-132656253)x3	DDX51, EP400 +1 more	Copy number gain	not provided	GUncertain significance
Select item 687663	GRCh37/hg19 12q24.33(chr12:131505849-132681966)x3	ADGRD1, DDX51 +6 more	Copy number gain	not provided	GUncertain significance
Select item 687262	GRCh37/hg19 12q24.33(chr12:132343915-132665554)x3	DDX51, EP400 +3 more	Copy number gain	not provided	GUncertain significance
Select item 684946	GRCh37/hg19 12q24.33(chr12:132518782-132656253)x3	DDX51, EP400 +1 more	Copy number gain	not provided	GUncertain significance
Select item 638102	GRCh37/hg19 12q24.33(chr12:131363916-133777645)x3	EP400, FBRSL1 +23 more	Copy number gain	See cases	GPathogenic
Select item 625819	GRCh37/hg19 12q24.31-24.33(chr12:125451405-133810935)	AACS, ADGRD1 +37 more	Copy number gain	not provided	GPathogenic
Select item 563980	GRCh37/hg19 12q24.33(chr12:130973400-133777902)x3	ZNF10, PGAM5 +26 more	Copy number gain	not provided	GLikely pathogenic
Select item 563923	GRCh37/hg19 12q24.33(chr12:132405650-132664387)x3	NOC4L, PUS1 +3 more	Copy number gain	not provided	GUncertain significance
Select item 547159	GRCh37/hg19 12q24.33(chr12:132498350-132631660)x3	DDX51, EP400 +1 more	Copy number gain	not provided	GUncertain significance
Select item 443351	GRCh37/hg19 12q24.33(chr12:132441175-133071304)x3	DDX51, EP400 +3 more	Copy number gain	See cases	GUncertain significance
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	DBX2, DCD +1006 more	Copy number gain	See cases	GPathogenic
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	AGAP2, ARF3 +1007 more	Copy number gain	See cases	GPathogenic
Select item 155589	GRCh38/hg38 12q24.21-24.33(chr12:114268403-133201316)x3	TRD-GTC2-10, TRD-GTC2-9 +906 more	Copy number gain	See cases	GPathogenic
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	LOC130008916, LOC130008917 +4836 more	Copy number gain	See cases	GPathogenic
Select item 148578	GRCh38/hg38 12q24.31-24.33(chr12:120697672-133202490)x3	AACS, ABCB9 +663 more	Copy number gain	See cases	GPathogenic
Select item 146222	GRCh38/hg38 12q24.31-24.33(chr12:123509825-133191400)x3	AACS, ADGRD1 +408 more	Copy number gain	See cases	GPathogenic
Select item 144761	GRCh38/hg38 12q24.33(chr12:131650542-133191400)x1	ANKLE2, CHFR +122 more	Copy number loss	See cases	GPathogenic
Select item 59847	GRCh38/hg38 12q24.32-24.33(chr12:126403612-133166920)x3	ADGRD1, ADGRD1-AS1 +266 more	Copy number gain	See cases	GPathogenic
Select item 59821	GRCh38/hg38 12q24.21-24.33(chr12:115131583-133166920)x3	AACS, ABCB9 +892 more	Copy number gain	See cases	GPathogenic
Select item 57448	GRCh38/hg38 12q24.31-24.33(chr12:123444758-133191400)x3	AACS, ADGRD1 +412 more	Copy number gain	See cases	GPathogenic
Select item 57207	GRCh38/hg38 12q24.23-24.33(chr12:118165459-133182322)x3	HNF1A, HNF1A-AS1 +786 more	Copy number gain	See cases	GPathogenic

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: 95