ClinVar for Gene (Select 79840) - ClinVar - NCBI

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

Links from Gene

Items: 1 to 100 of 250

<< First< Prev

Page of 3

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3247494	NC_000002.11:g.(?_219646906)_(219942948_?)dup	CRYBA2, CYP27A1 +9 more	Duplication	not provided	GUncertain significance
Select item 3247493	NC_000002.11:g.(?_219919929)_(219942948_?)del	IHH, NHEJ1	Deletion	not provided	GPathogenic
Select item 3247343	NC_000002.11:g.(?_220011382)_(220011480_?)del	NHEJ1	Deletion	Cernunnos-XLF deficiency	GPathogenic
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 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 3148939	GRCh37/hg19 2q35-37.3(chr2:216815496-242782258)x3	AAMP, ABCB6 +218 more	Copy number gain	See cases	GPathogenic
Select item 3021248	NM_024782.3(NHEJ1):c.75del (p.Lys26fs)	NHEJ1 (K26fs)	Deletion (frameshift variant +1 more)	Cernunnos-XLF deficiency	GPathogenic
Select item 3013166	NM_024782.3(NHEJ1):c.390+9A>G	NHEJ1	Single nucleotide variant (intron variant)	Cernunnos-XLF deficiency	GLikely benign
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 2973768	NM_024782.3(NHEJ1):c.529+18G>C	NHEJ1	Single nucleotide variant (intron variant)	Cernunnos-XLF deficiency	GLikely benign
Select item 2968501	NM_024782.3(NHEJ1):c.546del (p.Glu182fs)	NHEJ1 (E182fs)	Deletion (frameshift variant +1 more)	Cernunnos-XLF deficiency	GPathogenic
Select item 2959701	NM_024782.3(NHEJ1):c.589-14C>T	NHEJ1	Single nucleotide variant (intron variant)	Cernunnos-XLF deficiency	GLikely benign
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 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 2904292	NM_024782.3(NHEJ1):c.178-6C>G	NHEJ1	Single nucleotide variant (intron variant)	Cernunnos-XLF deficiency	GLikely benign
Select item 2884489	NM_024782.3(NHEJ1):c.294T>C (p.Asp98=)	NHEJ1	Single nucleotide variant (synonymous variant +1 more)	Cernunnos-XLF deficiency	GLikely benign
Select item 2880934	NM_024782.3(NHEJ1):c.123T>G (p.Leu41=)	NHEJ1	Single nucleotide variant (synonymous variant +1 more)	Cernunnos-XLF deficiency	GLikely benign
Select item 2867813	NM_024782.3(NHEJ1):c.219C>A (p.Leu73=)	NHEJ1	Single nucleotide variant (synonymous variant +1 more)	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 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 2791646	NM_024782.3(NHEJ1):c.270T>C (p.Pro90=)	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 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 2734397	NM_024782.3(NHEJ1):c.526C>T (p.Arg176Ter)	NHEJ1 (R176*)	Single nucleotide variant (nonsense +1 more)	Cernunnos-XLF deficiency	GPathogenic
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 2718488	NM_024782.3(NHEJ1):c.381T>C (p.Ser127=)	NHEJ1	Single nucleotide variant (synonymous variant +1 more)	Cernunnos-XLF deficiency	GLikely benign
Select item 2714909	NM_024782.3(NHEJ1):c.329G>C (p.Ser110Thr)	NHEJ1 (S110T)	Single nucleotide variant (missense variant +1 more)	Cernunnos-XLF deficiency	GUncertain significance
Select item 2699002	NM_024782.3(NHEJ1):c.15G>A (p.Glu5=)	NHEJ1	Single nucleotide variant (synonymous variant +1 more)	Cernunnos-XLF deficiency	GLikely benign
Select item 2685875	GRCh37/hg19 2q35-37.3(chr2:218376403-242783384)x3	AAMP, ABCB6 +208 more	Copy number gain	not provided	GPathogenic
Select item 2580353	GRCh37/hg19 2q32.1-36.1(chr2:186698504-223918111)x3	AAMP, ABCA12 +208 more	Copy number gain	See cases	GPathogenic
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 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 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 2340848	NM_024782.3(NHEJ1):c.241C>T (p.Arg81Cys)	NHEJ1 (R81C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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 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 2177768	NM_024782.3(NHEJ1):c.150C>T (p.Asp50=)	NHEJ1	Single nucleotide variant (synonymous variant +1 more)	Cernunnos-XLF deficiency	GLikely benign
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 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 2145714	NM_024782.3(NHEJ1):c.246A>G (p.Pro82=)	NHEJ1	Single nucleotide variant (synonymous variant +1 more)	Cernunnos-XLF deficiency	GLikely benign
Select item 2135657	NM_024782.3(NHEJ1):c.24G>A (p.Leu8=)	NHEJ1	Single nucleotide variant (synonymous variant +1 more)	Cernunnos-XLF deficiency	GLikely benign
Select item 2123563	NM_024782.3(NHEJ1):c.230A>G (p.Asp77Gly)	NHEJ1 (D77G)	Single nucleotide variant (missense variant +1 more)	Cernunnos-XLF deficiency	GUncertain significance
Select item 2122980	NM_024782.3(NHEJ1):c.75_78dup (p.Val27fs)	NHEJ1 (V27fs)	Duplication (frameshift variant +1 more)	Cernunnos-XLF deficiency	GPathogenic
Select item 2102673	NM_024782.3(NHEJ1):c.369C>T (p.Cys123=)	NHEJ1	Single nucleotide variant (synonymous variant +1 more)	Cernunnos-XLF deficiency	GLikely benign
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 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 2073381	NM_024782.3(NHEJ1):c.42G>T (p.Ala14=)	NHEJ1	Single nucleotide variant (synonymous variant +1 more)	Cernunnos-XLF deficiency	GLikely benign
Select item 2060594	NM_024782.3(NHEJ1):c.238C>T (p.Leu80Phe)	NHEJ1 (L80F)	Single nucleotide variant (missense variant +1 more)	Cernunnos-XLF deficiency	GUncertain significance
Select item 2053597	NM_024782.3(NHEJ1):c.177+1G>A	NHEJ1	Single nucleotide variant (splice donor variant)	Cernunnos-XLF deficiency	GLikely pathogenic
Select item 2042589	NM_024782.3(NHEJ1):c.13G>A (p.Glu5Lys)	NHEJ1 (E5K)	Single nucleotide variant (missense variant +1 more)	Cernunnos-XLF deficiency	GUncertain significance
Select item 2030418	NM_024782.3(NHEJ1):c.94C>T (p.Gln32Ter)	NHEJ1 (Q32*)	Single nucleotide variant (nonsense +1 more)	Cernunnos-XLF deficiency	GPathogenic
Select item 2030417	NM_024782.3(NHEJ1):c.390+1G>A	NHEJ1	Single nucleotide variant (splice donor variant)	Cernunnos-XLF deficiency	GLikely pathogenic
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 2004671	NM_024782.3(NHEJ1):c.151A>G (p.Thr51Ala)	NHEJ1 (T51A)	Single nucleotide variant (missense variant +1 more)	Cernunnos-XLF deficiency	GUncertain significance
Select item 2000648	NM_024782.3(NHEJ1):c.205C>A (p.Pro69Thr)	NHEJ1 (P69T)	Single nucleotide variant (missense variant +1 more)	Cernunnos-XLF deficiency	GUncertain significance
Select item 1999402	NM_024782.3(NHEJ1):c.67C>T (p.Leu23Phe)	NHEJ1 (L23F)	Single nucleotide variant (missense variant +1 more)	Cernunnos-XLF deficiency	GUncertain significance
Select item 1991827	NM_024782.3(NHEJ1):c.177+15A>C	NHEJ1	Single nucleotide variant (intron variant)	Cernunnos-XLF deficiency	GLikely benign
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 1954094	NM_024782.3(NHEJ1):c.122T>G (p.Leu41Arg)	NHEJ1 (L41R)	Single nucleotide variant (missense variant +1 more)	Cernunnos-XLF deficiency	GUncertain significance
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 1946613	NM_024782.3(NHEJ1):c.200C>G (p.Ala67Gly)	NHEJ1 (A67G)	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 1920759	NM_024782.3(NHEJ1):c.706+19C>T	LOC126806516, NHEJ1	Single nucleotide variant (intron variant)	Cernunnos-XLF deficiency	GLikely benign
Select item 1911439	NM_024782.3(NHEJ1):c.191G>A (p.Arg64Gln)	NHEJ1 (R64Q)	Single nucleotide variant (missense variant +1 more)	Cernunnos-XLF deficiency	GUncertain significance
Select item 1907308	NM_024782.3(NHEJ1):c.825+20del	LOC126806516, NHEJ1	Deletion (intron variant)	Cernunnos-XLF deficiency	GLikely benign
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 1804537	NM_024782.3(NHEJ1):c.707-22C>G	LOC126806516, NHEJ1	Single nucleotide variant (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 1705616	NM_024782.3(NHEJ1):c.134G>A (p.Trp45Ter)	NHEJ1 (W45*)	Single nucleotide variant (nonsense +1 more)	Cernunnos-XLF deficiency	GPathogenic
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 1663853	NM_024782.3(NHEJ1):c.219C>G (p.Leu73=)	NHEJ1	Single nucleotide variant (synonymous variant +1 more)	Cernunnos-XLF deficiency	GLikely benign
Select item 1648915	NM_024782.3(NHEJ1):c.390+14G>A	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 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 1593914	NM_024782.3(NHEJ1):c.178-11T>C	NHEJ1	Single nucleotide variant (intron variant)	Cernunnos-XLF deficiency	GLikely benign
Select item 1586448	NM_024782.3(NHEJ1):c.42G>A (p.Ala14=)	NHEJ1	Single nucleotide variant (synonymous variant +1 more)	Cernunnos-XLF deficiency	GLikely benign
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 1567263	NM_024782.3(NHEJ1):c.391-4A>G	NHEJ1	Single nucleotide variant (intron variant)	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 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 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 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 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 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 1531879	NM_024782.3(NHEJ1):c.529+11A>G	NHEJ1	Single nucleotide variant (intron variant)	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 1526953	GRCh37/hg19 2q35-37.3(chr2:219606537-239217703)	FBXO36, UGT1A5 +147 more	Copy number loss	not specified	GPathogenic
Select item 1526952	GRCh37/hg19 2q35(chr2:218210665-220141650)	AAMP, ABCB6 +42 more	Copy number gain	not specified	GUncertain significance
Select item 1526950	GRCh37/hg19 2q34-36.1(chr2:215108009-221679980)	AAMP, ABCA12 +72 more	Copy number gain	not specified	GPathogenic
Select item 1525337	NM_024782.3(NHEJ1):c.533G>A (p.Arg178Gln)	NHEJ1 (R178Q)	Single nucleotide variant (missense variant +1 more)	Cernunnos-XLF deficiency +1 more	GUncertain significance
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 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 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 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 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 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 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 1504506	NM_024782.3(NHEJ1):c.112G>A (p.Val38Ile)	NHEJ1 (V38I)	Single nucleotide variant (missense variant +1 more)	Cernunnos-XLF deficiency	GUncertain significance

<< First< Prev

Page of 3