NHEJ1[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1229618	NM_024782.3(NHEJ1):c.*157C>T	NHEJ1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1268786	NM_024782.3(NHEJ1):c.*40C>T	NHEJ1	Single nucleotide variant (3 prime UTR variant +1 more)	not specified +1 more	GBenign
Select item 1007398	NM_024782.3(NHEJ1):c.896G>A (p.Ser299Asn)	NHEJ1 (S299N +1 more)	Single nucleotide variant (missense variant +1 more)	Cernunnos-XLF deficiency	GUncertain significance
Select item 1419395	NM_024782.3(NHEJ1):c.895A>G (p.Ser299Gly)	NHEJ1 (S304G +1 more)	Single nucleotide variant (missense variant +1 more)	Cernunnos-XLF deficiency	GUncertain significance
Select item 2445899	NM_024782.3(NHEJ1):c.860C>A (p.Ser287Ter)	NHEJ1 (S287* +1 more)	Single nucleotide variant (nonsense +1 more)	not specified	GUncertain significance
Select item 1008109	NM_024782.3(NHEJ1):c.860C>T (p.Ser287Leu)	NHEJ1 (S287L +1 more)	Single nucleotide variant (missense variant +1 more)	Cernunnos-XLF deficiency +2 more	GUncertain significance
Select item 3199409	NM_024782.3(NHEJ1):c.842T>A (p.Leu281Gln)	NHEJ1 (L286Q +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1426050	NM_024782.3(NHEJ1):c.842T>C (p.Leu281Pro)	NHEJ1 (L286P +1 more)	Single nucleotide variant (missense variant +1 more)	Cernunnos-XLF deficiency	GUncertain significance
Select item 795327	NM_024782.3(NHEJ1):c.837C>A (p.Gly279=)	NHEJ1	Single nucleotide variant (synonymous variant +1 more)	Cernunnos-XLF deficiency	GLikely benign
Select item 1948190	NM_024782.3(NHEJ1):c.834A>C (p.Ser278=)	NHEJ1	Single nucleotide variant (synonymous variant +1 more)	Cernunnos-XLF deficiency	GLikely benign
Select item 1509026	NM_024782.3(NHEJ1):c.830C>T (p.Thr277Ile)	NHEJ1 (T282I +1 more)	Single nucleotide variant (missense variant +1 more)	Cernunnos-XLF deficiency	GUncertain significance
Select item 1165694	NM_024782.3(NHEJ1):c.826-13C>T	NHEJ1	Single nucleotide variant (intron variant)	Cernunnos-XLF deficiency	GBenign
Select item 1294277	NM_024782.3(NHEJ1):c.826-50C>T	NHEJ1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1261938	NM_024782.3(NHEJ1):c.826-100C>T	NHEJ1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1234916	NM_024782.3(NHEJ1):c.826-125dup	NHEJ1	Duplication (intron variant)	not provided	GBenign
Select item 1225248	NM_024782.3(NHEJ1):c.826-112_826-103del	NHEJ1	Deletion (intron variant)	not provided	GBenign
Select item 1230514	NM_024782.3(NHEJ1):c.826-187G>T	NHEJ1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1060729	NM_024782.3(NHEJ1):c.703G>A (p.Ala235Thr)	NHEJ1 (A235T)	Single nucleotide variant (missense variant +1 more)	Cernunnos-XLF deficiency	GUncertain significance
Select item 653961	NM_024782.3(NHEJ1):c.702C>T (p.Gly234=)	NHEJ1	Single nucleotide variant (synonymous variant +1 more)	Cernunnos-XLF deficiency	GUncertain significance
Select item 1417056	NM_024782.3(NHEJ1):c.701G>A (p.Gly234Asp)	NHEJ1 (G234D)	Single nucleotide variant (missense variant +1 more)	Cernunnos-XLF deficiency	GUncertain significance
Select item 536738	NM_024782.3(NHEJ1):c.700G>A (p.Gly234Ser)	NHEJ1 (G234S)	Single nucleotide variant (missense variant +1 more)	Cernunnos-XLF deficiency	GUncertain significance
Select item 2029171	NM_024782.3(NHEJ1):c.684G>A (p.Val228=)	NHEJ1	Single nucleotide variant (synonymous variant +1 more)	Cernunnos-XLF deficiency	GLikely benign
Select item 1506037	NM_024782.3(NHEJ1):c.681A>G (p.Gln227=)	NHEJ1	Single nucleotide variant (synonymous variant +1 more)	Cernunnos-XLF deficiency	GUncertain significance
Select item 1453461	NM_024782.3(NHEJ1):c.670_671del (p.Gln224fs)	NHEJ1 (Q224fs)	Microsatellite (frameshift variant +1 more)	Cernunnos-XLF deficiency	GPathogenic
Select item 856388	NM_024782.3(NHEJ1):c.655A>G (p.Met219Val)	NHEJ1 (M219V)	Single nucleotide variant (missense variant +1 more)	Cernunnos-XLF deficiency	GUncertain significance
Select item 1928445	NM_024782.3(NHEJ1):c.653A>G (p.Tyr218Cys)	NHEJ1 (Y218C)	Single nucleotide variant (missense variant +1 more)	Cernunnos-XLF deficiency	GUncertain significance
Select item 536739	NM_024782.3(NHEJ1):c.643C>T (p.Gln215Ter)	NHEJ1 (Q215*)	Single nucleotide variant (nonsense +1 more)	Cernunnos-XLF deficiency	GPathogenic
Select item 1544821	NM_024782.3(NHEJ1):c.642G>T (p.Leu214=)	NHEJ1	Single nucleotide variant (synonymous variant +1 more)	Cernunnos-XLF deficiency	GLikely benign
Select item 1140723	NM_024782.3(NHEJ1):c.642G>A (p.Leu214=)	NHEJ1	Single nucleotide variant (synonymous variant +1 more)	Cernunnos-XLF deficiency	GLikely benign
Select item 1508504	NM_024782.3(NHEJ1):c.641T>C (p.Leu214Pro)	NHEJ1 (L214P)	Single nucleotide variant (missense variant +1 more)	Cernunnos-XLF deficiency	GUncertain significance
Select item 1518417	NM_024782.3(NHEJ1):c.638A>G (p.Asn213Ser)	NHEJ1 (N213S)	Single nucleotide variant (missense variant +1 more)	Cernunnos-XLF deficiency	GUncertain significance
Select item 1496369	NM_024782.3(NHEJ1):c.616G>A (p.Asp206Asn)	NHEJ1 (D206N)	Single nucleotide variant (missense variant +1 more)	Cernunnos-XLF deficiency	GUncertain significance
Select item 1112221	NM_024782.3(NHEJ1):c.606C>T (p.Cys202=)	NHEJ1	Single nucleotide variant (synonymous variant +1 more)	Cernunnos-XLF deficiency	GLikely benign
Select item 1558452	NM_024782.3(NHEJ1):c.603A>G (p.Ala201=)	NHEJ1	Single nucleotide variant (synonymous variant +1 more)	Cernunnos-XLF deficiency	GLikely benign
Select item 2906976	NM_024782.3(NHEJ1):c.600G>A (p.Glu200=)	NHEJ1	Single nucleotide variant (synonymous variant +1 more)	Cernunnos-XLF deficiency	GLikely benign
Select item 1388980	NM_024782.3(NHEJ1):c.599A>C (p.Glu200Ala)	NHEJ1 (E200A)	Single nucleotide variant (missense variant +1 more)	Cernunnos-XLF deficiency	GUncertain significance
Select item 1149735	NM_024782.3(NHEJ1):c.597A>G (p.Pro199=)	NHEJ1	Single nucleotide variant (synonymous variant +1 more)	Cernunnos-XLF deficiency	GLikely benign
Select item 843941	NM_024782.3(NHEJ1):c.589-2A>G	NHEJ1	Single nucleotide variant (splice acceptor variant)	Cernunnos-XLF deficiency	GLikely pathogenic
Select item 1361437	NM_024782.3(NHEJ1):c.589-6T>A	NHEJ1	Single nucleotide variant (intron variant)	Cernunnos-XLF deficiency	GLikely benign
Select item 1126384	NM_024782.3(NHEJ1):c.589-7C>G	NHEJ1	Single nucleotide variant (intron variant)	Cernunnos-XLF deficiency	GLikely benign
Select item 2859609	NM_024782.3(NHEJ1):c.589-11C>G	NHEJ1	Single nucleotide variant (intron variant)	Cernunnos-XLF deficiency	GLikely benign
Select item 2959701	NM_024782.3(NHEJ1):c.589-14C>T	NHEJ1	Single nucleotide variant (intron variant)	Cernunnos-XLF deficiency	GLikely benign
Select item 1611464	NM_024782.3(NHEJ1):c.589-14C>A	NHEJ1	Single nucleotide variant (intron variant)	Cernunnos-XLF deficiency	GLikely benign
Select item 1249081	NM_024782.3(NHEJ1):c.589-53C>T	NHEJ1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1181355	NM_024782.3(NHEJ1):c.589-77G>A	NHEJ1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1272064	NM_024782.3(NHEJ1):c.589-80del	NHEJ1	Deletion (intron variant)	not provided	GBenign
Select item 1233887	NM_024782.3(NHEJ1):c.589-204T>C	NHEJ1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 984380	NC_000002.12:g.219102933_219134970dup	NHEJ1	Duplication	Syndactyly type 1	GPathogenic
Select item 1809806	NM_024782.3(NHEJ1):c.588+18131A>G	NHEJ1	Single nucleotide variant (intron variant)	Isolated anophthalmia-microphthalmia syndrome	GLikely pathogenic
Select item 1038158	NM_024782.3(NHEJ1):c.588+5G>A	NHEJ1	Single nucleotide variant (intron variant)	Cernunnos-XLF deficiency	GUncertain significance
Select item 2075201	NM_024782.3(NHEJ1):c.584T>C (p.Ile195Thr)	NHEJ1 (I195T)	Single nucleotide variant (missense variant +1 more)	Cernunnos-XLF deficiency	GUncertain significance
Select item 1501858	NM_024782.3(NHEJ1):c.577T>C (p.Phe193Leu)	NHEJ1 (F193L)	Single nucleotide variant (missense variant +1 more)	Cernunnos-XLF deficiency	GUncertain significance
Select item 418719	NM_024782.3(NHEJ1):c.570_573dup (p.Gln192fs)	NHEJ1 (Q192fs)	Duplication (frameshift variant +1 more)	not provided	GPathogenic
Select item 1458287	NM_024782.3(NHEJ1):c.569_570insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNCTGTCCTCGTGATACGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGAAAATTCCTTCTT (p.Leu190fs)	NHEJ1 (L190fs)	Microsatellite (frameshift variant +1 more)	Cernunnos-XLF deficiency	GPathogenic
Select item 3683639	NM_024782.3(NHEJ1):c.567C>T (p.Phe189=)	NHEJ1	Single nucleotide variant (synonymous variant +1 more)	Cernunnos-XLF deficiency	GLikely benign
Select item 568300	NM_024782.3(NHEJ1):c.560A>G (p.Asn187Ser)	NHEJ1 (N187S)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign
Select item 2752113	NM_024782.3(NHEJ1):c.558A>G (p.Glu186=)	NHEJ1	Single nucleotide variant (synonymous variant +1 more)	Cernunnos-XLF deficiency	GLikely benign
Select item 999715	NM_024782.3(NHEJ1):c.557A>G (p.Glu186Gly)	NHEJ1 (E186G)	Single nucleotide variant (missense variant +1 more)	Cernunnos-XLF deficiency	GUncertain significance
Select item 1424709	NM_024782.3(NHEJ1):c.553G>A (p.Glu185Lys)	NHEJ1 (E185K)	Single nucleotide variant (missense variant +1 more)	Cernunnos-XLF deficiency	GUncertain significance
Select item 2477699	NM_024782.3(NHEJ1):c.548C>T (p.Pro183Leu)	NHEJ1 (P183L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1358235	NM_024782.3(NHEJ1):c.547C>T (p.Pro183Ser)	NHEJ1 (P183S)	Single nucleotide variant (missense variant +1 more)	Cernunnos-XLF deficiency	GUncertain significance
Select item 2968501	NM_024782.3(NHEJ1):c.546del (p.Glu182fs)	NHEJ1 (E182fs)	Deletion (frameshift variant +1 more)	Cernunnos-XLF deficiency	GPathogenic
Select item 424201	NM_024782.3(NHEJ1):c.535_538del (p.Leu179fs)	NHEJ1 (L179fs)	Deletion (frameshift variant +1 more)	not provided	GLikely pathogenic
Select item 1525337	NM_024782.3(NHEJ1):c.533G>A (p.Arg178Gln)	NHEJ1 (R178Q)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 983	NM_024782.3(NHEJ1):c.532C>T (p.Arg178Ter)	NHEJ1 (R178*)	Single nucleotide variant (nonsense +1 more)	Cernunnos-XLF deficiency +1 more	GPathogenic
Select item 1466691	NM_024782.3(NHEJ1):c.530-1G>A	NHEJ1	Single nucleotide variant (splice acceptor variant)	Cernunnos-XLF deficiency	GLikely pathogenic
Select item 419273	NM_024782.3(NHEJ1):c.530-2A>T	NHEJ1	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GPathogenic
Select item 1325950	NM_024782.3(NHEJ1):c.530-77T>A	NHEJ1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1239426	NM_024782.3(NHEJ1):c.529+263G>T	NHEJ1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2973768	NM_024782.3(NHEJ1):c.529+18G>C	NHEJ1	Single nucleotide variant (intron variant)	Cernunnos-XLF deficiency	GLikely benign
Select item 1531879	NM_024782.3(NHEJ1):c.529+11A>G	NHEJ1	Single nucleotide variant (intron variant)	Cernunnos-XLF deficiency	GLikely benign
Select item 853183	NM_024782.3(NHEJ1):c.529+9A>T	NHEJ1	Single nucleotide variant (intron variant)	Cernunnos-XLF deficiency	GLikely benign
Select item 765587	NM_024782.3(NHEJ1):c.529+8G>C	NHEJ1	Single nucleotide variant (intron variant)	Cernunnos-XLF deficiency	GLikely benign
Select item 1484040	NM_024782.3(NHEJ1):c.529+1G>A	NHEJ1	Single nucleotide variant (splice donor variant)	Cernunnos-XLF deficiency	GLikely pathogenic
Select item 2734397	NM_024782.3(NHEJ1):c.526C>T (p.Arg176Ter)	NHEJ1 (R176*)	Single nucleotide variant (nonsense +1 more)	Cernunnos-XLF deficiency	GPathogenic
Select item 2152958	NM_024782.3(NHEJ1):c.518C>T (p.Thr173Met)	NHEJ1 (T173M)	Single nucleotide variant (missense variant +1 more)	Cernunnos-XLF deficiency	GUncertain significance
Select item 1547703	NM_024782.3(NHEJ1):c.513G>T (p.Gly171=)	NHEJ1	Single nucleotide variant (synonymous variant +1 more)	Cernunnos-XLF deficiency	GLikely benign
Select item 681041	NM_024782.3(NHEJ1):c.513G>C (p.Gly171=)	NHEJ1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 640419	NM_024782.3(NHEJ1):c.506A>G (p.Glu169Gly)	NHEJ1 (E169G)	Single nucleotide variant (missense variant +1 more)	Cernunnos-XLF deficiency	GUncertain significance
Select item 3720410	NM_024782.3(NHEJ1):c.501C>A (p.Tyr167Ter)	NHEJ1 (Y167*)	Single nucleotide variant (nonsense +1 more)	Cernunnos-XLF deficiency	GPathogenic
Select item 2148263	NM_024782.3(NHEJ1):c.500A>G (p.Tyr167Cys)	NHEJ1 (Y167C)	Single nucleotide variant (missense variant +1 more)	Cernunnos-XLF deficiency	GUncertain significance
Select item 1052017	NM_024782.3(NHEJ1):c.499T>C (p.Tyr167His)	NHEJ1 (Y167H)	Single nucleotide variant (missense variant +1 more)	Cernunnos-XLF deficiency	GUncertain significance
Select item 2828558	NM_024782.3(NHEJ1):c.475A>G (p.Met159Val)	NHEJ1 (M159V)	Single nucleotide variant (missense variant +1 more)	Cernunnos-XLF deficiency	GUncertain significance
Select item 1498636	NM_024782.3(NHEJ1):c.469C>T (p.Leu157Phe)	NHEJ1 (L157F)	Single nucleotide variant (missense variant +1 more)	Cernunnos-XLF deficiency	GUncertain significance
Select item 1542456	NM_024782.3(NHEJ1):c.468A>G (p.Leu156=)	NHEJ1	Single nucleotide variant (synonymous variant +1 more)	Cernunnos-XLF deficiency	GLikely benign
Select item 1531304	NM_024782.3(NHEJ1):c.465G>A (p.Thr155=)	NHEJ1	Single nucleotide variant (synonymous variant +1 more)	Cernunnos-XLF deficiency	GLikely benign
Select item 1022313	NM_024782.3(NHEJ1):c.464C>T (p.Thr155Met)	NHEJ1 (T155M)	Single nucleotide variant (missense variant +1 more)	Cernunnos-XLF deficiency	GUncertain significance
Select item 1985391	NM_024782.3(NHEJ1):c.460G>A (p.Ala154Thr)	NHEJ1 (A154T)	Single nucleotide variant (missense variant +1 more)	Cernunnos-XLF deficiency	GUncertain significance
Select item 1966703	NM_024782.3(NHEJ1):c.457C>T (p.Leu153=)	NHEJ1	Single nucleotide variant (synonymous variant +1 more)	Cernunnos-XLF deficiency	GLikely benign
Select item 468860	NM_024782.3(NHEJ1):c.451A>C (p.Arg151=)	NHEJ1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 1512757	NM_024782.3(NHEJ1):c.448G>A (p.Val150Met)	NHEJ1 (V150M)	Single nucleotide variant (missense variant +1 more)	Cernunnos-XLF deficiency	GUncertain significance
Select item 1582466	NM_024782.3(NHEJ1):c.441G>A (p.Gln147=)	NHEJ1	Single nucleotide variant (synonymous variant +1 more)	Cernunnos-XLF deficiency	GBenign
Select item 1554878	NM_024782.3(NHEJ1):c.438A>G (p.Leu146=)	NHEJ1	Single nucleotide variant (synonymous variant +1 more)	Cernunnos-XLF deficiency	GLikely benign
Select item 3405357	NM_024782.3(NHEJ1):c.424A>G (p.Met142Val)	NHEJ1 (M142V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1134366	NM_024782.3(NHEJ1):c.417G>A (p.Leu139=)	NHEJ1	Single nucleotide variant (synonymous variant +1 more)	Cernunnos-XLF deficiency	GLikely benign
Select item 1465124	NM_024782.3(NHEJ1):c.401A>G (p.His134Arg)	NHEJ1 (H134R)	Single nucleotide variant (missense variant +1 more)	Cernunnos-XLF deficiency	GUncertain significance
Select item 2211133	NM_024782.3(NHEJ1):c.400C>A (p.His134Asn)	NHEJ1 (H134N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1567263	NM_024782.3(NHEJ1):c.391-4A>G	NHEJ1	Single nucleotide variant (intron variant)	Cernunnos-XLF deficiency	GLikely benign
Select item 1243280	NM_024782.3(NHEJ1):c.391-59C>G	NHEJ1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1195744	NM_024782.3(NHEJ1):c.391-259A>G	NHEJ1	Single nucleotide variant (intron variant)	not provided	GLikely benign

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