Related gene-specific medical variations for Gene (Select 79840) - ClinVar

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Items: 36

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3247343	NC_000002.11:g.(?_220011382)_(220011480_?)del	NHEJ1	Deletion	Cernunnos-XLF deficiency	GPathogenic
Select item 3199406	NM_024782.3(NHEJ1):c.788C>T (p.Ser263Leu)	LOC126806516, NHEJ1 (S263L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3008068	NM_024782.3(NHEJ1):c.765C>A (p.Asn255Lys)	LOC126806516, NHEJ1 (N260K +1 more)	Single nucleotide variant (missense variant +1 more)	Cernunnos-XLF deficiency	GUncertain significance
Select item 2912488	NM_024782.3(NHEJ1):c.753C>T (p.Ser251=)	LOC126806516, NHEJ1	Single nucleotide variant (synonymous variant +1 more)	Cernunnos-XLF deficiency	GLikely benign
Select item 2772470	NM_024782.3(NHEJ1):c.706+13G>C	LOC126806516, NHEJ1 (R240T)	Single nucleotide variant (missense variant +1 more)	Cernunnos-XLF deficiency	GLikely benign
Select item 2726638	NM_024782.3(NHEJ1):c.706+16G>A	LOC126806516, NHEJ1	Single nucleotide variant (intron variant +1 more)	Cernunnos-XLF deficiency	GLikely benign
Select item 2496469	NM_024782.3(NHEJ1):c.709G>C (p.Asp237His)	LOC126806516, NHEJ1 (D237H +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2198948	NM_024782.3(NHEJ1):c.781G>A (p.Val261Ile)	LOC126806516, NHEJ1 (V261I +1 more)	Single nucleotide variant (missense variant +1 more)	Cernunnos-XLF deficiency	GUncertain significance
Select item 2191471	NM_024782.3(NHEJ1):c.706+16G>T	LOC126806516, NHEJ1	Single nucleotide variant (intron variant +1 more)	Cernunnos-XLF deficiency	GUncertain significance
Select item 2094965	NM_024782.3(NHEJ1):c.777A>T (p.Gln259His)	LOC126806516, NHEJ1 (Q259H +1 more)	Single nucleotide variant (missense variant +1 more)	Cernunnos-XLF deficiency	GUncertain significance
Select item 1920759	NM_024782.3(NHEJ1):c.706+19C>T	LOC126806516, NHEJ1	Single nucleotide variant (intron variant)	Cernunnos-XLF deficiency	GLikely benign
Select item 1907308	NM_024782.3(NHEJ1):c.825+20del	LOC126806516, NHEJ1	Deletion (intron variant)	Cernunnos-XLF deficiency	GLikely 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 1603183	NM_024782.3(NHEJ1):c.706+15G>A	LOC126806516, NHEJ1 (G241R)	Single nucleotide variant (missense variant +1 more)	Cernunnos-XLF deficiency	GLikely benign
Select item 1533446	NM_024782.3(NHEJ1):c.762A>G (p.Val254=)	LOC126806516, NHEJ1	Single nucleotide variant (synonymous variant +1 more)	Cernunnos-XLF deficiency	GLikely benign
Select item 1518683	NM_024782.3(NHEJ1):c.768G>C (p.Gln256His)	LOC126806516, NHEJ1 (Q261H +1 more)	Single nucleotide variant (missense variant +1 more)	Cernunnos-XLF deficiency	GUncertain significance
Select item 1512734	NM_024782.3(NHEJ1):c.722C>T (p.Ser241Leu)	LOC126806516, NHEJ1 (S246L +1 more)	Single nucleotide variant (missense variant +1 more)	Cernunnos-XLF deficiency	GUncertain significance
Select item 1449006	NM_024782.3(NHEJ1):c.818A>C (p.Glu273Ala)	LOC126806516, NHEJ1 (E278A +1 more)	Single nucleotide variant (missense variant +1 more)	Cernunnos-XLF deficiency	GUncertain significance
Select item 1380965	NM_024782.3(NHEJ1):c.805_806delinsTT (p.Ala269Leu)	LOC126806516, NHEJ1 (A269L +1 more)	Indel (missense variant +1 more)	Cernunnos-XLF deficiency	GUncertain significance
Select item 1356936	NM_024782.3(NHEJ1):c.743G>C (p.Gly248Ala)	LOC126806516, NHEJ1 (G248A +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1343709	NM_024782.3(NHEJ1):c.806C>T (p.Ala269Val)	LOC126806516, NHEJ1 (A269V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1343708	NM_024782.3(NHEJ1):c.805G>T (p.Ala269Ser)	LOC126806516, NHEJ1 (A269S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1258953	NM_024782.3(NHEJ1):c.825+101A>G	LOC126806516, 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 1235509	NM_024782.3(NHEJ1):c.707-300dup	LOC126806516, NHEJ1	Duplication (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 1199661	NM_024782.3(NHEJ1):c.707-300_707-299dup	LOC126806516, NHEJ1	Duplication (intron variant)	not provided	GLikely benign
Select item 1054498	NM_024782.3(NHEJ1):c.748G>A (p.Asp250Asn)	LOC126806516, NHEJ1 (D250N +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 834545	NM_024782.3(NHEJ1):c.794C>T (p.Pro265Leu)	NHEJ1, LOC126806516 (P265L +1 more)	Single nucleotide variant (missense variant +1 more)	Cernunnos-XLF deficiency	GUncertain significance
Select item 750208	NM_024782.3(NHEJ1):c.707-8G>A	LOC126806516, NHEJ1	Single nucleotide variant (intron variant)	Cernunnos-XLF deficiency	GLikely benign
Select item 707091	NM_024782.3(NHEJ1):c.747C>T (p.Ile249=)	LOC126806516, NHEJ1	Single nucleotide variant (synonymous variant +1 more)	Cernunnos-XLF deficiency	GLikely benign
Select item 626144	NM_024782.3(NHEJ1):c.825+3G>A	LOC126806516, NHEJ1	Single nucleotide variant (intron variant)	Cernunnos-XLF deficiency	GUncertain significance
Select item 509440	NM_024782.3(NHEJ1):c.783C>G (p.Val261=)	LOC126806516, NHEJ1	Single nucleotide variant (synonymous variant +1 more)	Cernunnos-XLF deficiency +3 more	GLikely benign
Select item 435982	NM_024782.3(NHEJ1):c.707-7A>T	LOC126806516, NHEJ1	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely 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 specified +1 more	GBenign
Select item 138521	NM_024782.3(NHEJ1):c.706+7C>A	LOC126806516, NHEJ1 (P238H)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GBenign

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Links from Gene

Items: 36