25737[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150620	GRCh38/hg38 2q31.3-36.2(chr2:180513793-224302848)x3	INPP1, ITGA4 +1097 more	Copy number gain	See cases	GPathogenic
Select item 59158	GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3	LOC129935343, LOC129935344 +1703 more	Copy number gain	See cases	GPathogenic
Select item 154206	GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3	AAMP, ABCA12 +1687 more	Copy number gain	See cases	GPathogenic
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 57419	GRCh38/hg38 2q32.3-37.3(chr2:194898783-236473913)x3	LOC129935713, LOC129935714 +1299 more	Copy number gain	See cases	GPathogenic
Select item 146683	GRCh38/hg38 2q34-37.3(chr2:210579676-242126245)x3	AAMP, ABCA12 +1148 more	Copy number gain	See cases	GPathogenic
Select item 155149	GRCh38/hg38 2q35-37.3(chr2:218101759-242126245)x3	LOC110120629, LOC110120691 +986 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 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)	Inborn genetic diseases +1 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 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 1907308	NM_024782.3(NHEJ1):c.825+20del	LOC126806516, NHEJ1	Deletion (intron variant)	Cernunnos-XLF deficiency	GLikely benign
Select item 626144	NM_024782.3(NHEJ1):c.825+3G>A	NHEJ1, LOC126806516	Single nucleotide variant (intron variant)	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 1343709	NM_024782.3(NHEJ1):c.806C>T (p.Ala269Val)	LOC126806516, NHEJ1 (A269V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1343708	NM_024782.3(NHEJ1):c.805G>T (p.Ala269Ser)	LOC126806516, NHEJ1 (A269S +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)	LOC126806516, NHEJ1 (P265L +1 more)	Single nucleotide variant (missense variant +1 more)	Cernunnos-XLF deficiency	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 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 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 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 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 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 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 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 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 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 707091	NM_024782.3(NHEJ1):c.747C>T (p.Ile249=)	NHEJ1, LOC126806516	Single nucleotide variant (synonymous variant +1 more)	Cernunnos-XLF deficiency	GLikely benign
Select item 1356936	NM_024782.3(NHEJ1):c.743G>C (p.Gly248Ala)	LOC126806516, NHEJ1 (G248A +1 more)	Single nucleotide variant (missense variant +1 more)	Cernunnos-XLF deficiency +1 more	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 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 435982	NM_024782.3(NHEJ1):c.707-7A>T	LOC126806516, NHEJ1	Single nucleotide variant (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 750208	NM_024782.3(NHEJ1):c.707-8G>A	NHEJ1, LOC126806516	Single nucleotide variant (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 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 1920759	NM_024782.3(NHEJ1):c.706+19C>T	LOC126806516, NHEJ1	Single nucleotide variant (intron variant)	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 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 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 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 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 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 149033	GRCh38/hg38 2q35(chr2:219081620-219758878)x3	ABCB6, ANKZF1 +77 more	Copy number gain	See cases	GUncertain significance
Select item 58844	GRCh38/hg38 2q35-36.3(chr2:219081620-225430308)x1	ABCB6, ACSL3 +195 more	Copy number loss	See cases	GPathogenic
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 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

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