"GeneDx"[submitter] AND "NHEJ1"[gene] - ClinVar

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Items: 50

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59159	GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3	LOC129935726, LOC129935727 +1665 more	Copy number gain	See cases	GPathogenic
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 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 1237087	NM_024782.3(NHEJ1):c.825+290A>G	LOC126806516, NHEJ1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1258953	NM_024782.3(NHEJ1):c.825+101A>G	LOC126806516, NHEJ1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1200626	NM_024782.3(NHEJ1):c.825+29G>A	LOC126806516, NHEJ1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 509440	NM_024782.3(NHEJ1):c.783C>G (p.Val261=)	LOC126806516, NHEJ1	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GLikely benign
Select item 378272	NM_024782.3(NHEJ1):c.767A>T (p.Gln256Leu)	LOC126806516, NHEJ1 (Q256L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GBenign
Select item 435982	NM_024782.3(NHEJ1):c.707-7A>T	LOC126806516, NHEJ1	Single nucleotide variant (intron variant)	Cernunnos-XLF deficiency +2 more	GBenign/Likely benign
Select item 1804537	NM_024782.3(NHEJ1):c.707-22C>G	LOC126806516, NHEJ1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1235509	NM_024782.3(NHEJ1):c.707-300dup	LOC126806516, NHEJ1	Duplication (intron variant)	not provided	GBenign
Select item 1199661	NM_024782.3(NHEJ1):c.707-300_707-299dup	LOC126806516, NHEJ1	Duplication (intron variant)	not provided	GLikely benign
Select item 138521	NM_024782.3(NHEJ1):c.706+7C>A	LOC126806516, NHEJ1 (P238H)	Single nucleotide variant (missense variant +1 more)	Cernunnos-XLF deficiency +2 more	GBenign
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 418719	NM_024782.3(NHEJ1):c.570_573dup (p.Gln192fs)	NHEJ1 (Q192fs)	Duplication (frameshift variant +1 more)	not provided	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 983	NM_024782.3(NHEJ1):c.532C>T (p.Arg178Ter)	NHEJ1 (R178*)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GPathogenic
Select item 419273	NM_024782.3(NHEJ1):c.530-2A>T	NHEJ1	Single nucleotide variant (splice acceptor variant)	Cernunnos-XLF deficiency +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 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 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
Select item 1178377	NM_024782.3(NHEJ1):c.390+120T>C	NHEJ1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1166056	NM_024782.3(NHEJ1):c.390+18G>A	NHEJ1	Single nucleotide variant (intron variant)	Cernunnos-XLF deficiency +2 more	GBenign
Select item 424538	NM_024782.3(NHEJ1):c.355T>G (p.Trp119Gly)	NHEJ1 (W119G)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 424561	NM_024782.3(NHEJ1):c.350del (p.Phe117fs)	NHEJ1 (F117fs)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 280838	NM_024782.3(NHEJ1):c.324dup (p.Arg109fs)	NHEJ1 (R109fs)	Duplication (frameshift variant +1 more)	not provided	GPathogenic
Select item 1254956	NM_024782.3(NHEJ1):c.178-29C>G	NHEJ1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1283285	NM_024782.3(NHEJ1):c.177+189_177+196del	NHEJ1	Deletion (intron variant)	not provided	GBenign
Select item 1279266	NM_024782.3(NHEJ1):c.177+191_177+196del	NHEJ1	Deletion (intron variant)	not provided	GBenign
Select item 1220475	NM_024782.3(NHEJ1):c.177+187_177+196del	NHEJ1	Deletion (intron variant)	not provided	GLikely benign
Select item 1706853	NM_024782.3(NHEJ1):c.177+147TG[19]	NHEJ1	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1296902	NM_024782.3(NHEJ1):c.177+147TG[23]	NHEJ1	Microsatellite (intron variant)	not provided	GBenign
Select item 1277813	NM_024782.3(NHEJ1):c.177+147TG[22]	NHEJ1	Microsatellite (intron variant)	not provided	GBenign
Select item 1225804	NM_024782.3(NHEJ1):c.177+147TG[21]	NHEJ1	Microsatellite (intron variant)	not provided	GBenign
Select item 1178743	NM_024782.3(NHEJ1):c.177+147TG[20]	NHEJ1	Microsatellite (intron variant)	not provided	GBenign
Select item 1249459	NM_024782.3(NHEJ1):c.177+191T>A	NHEJ1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1225662	NM_024782.3(NHEJ1):c.177+189T>A	NHEJ1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1187927	NM_024782.3(NHEJ1):c.177+86C>T	NHEJ1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 138520	NM_024782.3(NHEJ1):c.40G>A (p.Ala14Thr)	NHEJ1 (A14T)	Single nucleotide variant (missense variant +1 more)	Cernunnos-XLF deficiency +2 more	GBenign
Select item 1293677	NM_024782.3(NHEJ1):c.1-112T>G	NHEJ1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign

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Items: 50