NMNAT1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2664871	GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	A2ML1-AS2, A3GALT2 +2151 more	Copy number gain	Trisomy 12p	GPathogenic
Select item 147521	GRCh38/hg38 1p36.33-36.22(chr1:844347-12470133)x1	ACAP3, ACOT7 +806 more	Copy number loss	See cases	GPathogenic
Select item 59846	GRCh38/hg38 1p36.32-36.13(chr1:3006193-17688934)x1	LINC02783, LINC03126 +804 more	Copy number loss	See cases	GPathogenic
Select item 148387	GRCh38/hg38 1p36.32-36.21(chr1:4898439-12911913)x1	AADACL3, AADACL4 +500 more	Copy number loss	See cases	GPathogenic
Select item 59856	GRCh38/hg38 1p36.32-36.21(chr1:4898439-13111056)x1	LOC129929435, LOC129929436 +505 more	Copy number loss	See cases	GPathogenic
Select item 154704	GRCh38/hg38 1p36.31-36.13(chr1:5363826-18360302)x1	PLOD1, PRAMEF1 +730 more	Copy number loss	See cases	GPathogenic
Select item 148885	GRCh38/hg38 1p36.31-36.21(chr1:6303641-15799093)x1	LOC129929327, LOC129929328 +557 more	Copy number loss	See cases	GPathogenic
Select item 154839	GRCh38/hg38 1p36.31-36.13(chr1:6554885-16056011)x3	AADACL3, AADACL4 +563 more	Copy number gain	See cases	GPathogenic
Select item 58051	GRCh38/hg38 1p36.31-36.21(chr1:6652339-12724844)x3	AADACL3, AADACL4 +387 more	Copy number gain	See cases	GPathogenic
Select item 59884	GRCh38/hg38 1p36.23-36.21(chr1:7165036-13111056)x1	AADACL3, AADACL4 +386 more	Copy number loss	See cases	GPathogenic
Select item 146535	GRCh38/hg38 1p36.23-36.22(chr1:8283694-12470133)x1	AGTRAP, ANGPTL7 +309 more	Copy number loss	See cases	GPathogenic
Select item 148048	GRCh38/hg38 1p36.23-36.22(chr1:8804244-10102950)x3	CA6, CLSTN1 +107 more	Copy number gain	See cases	GUncertain significance
Select item 59885	GRCh38/hg38 1p36.23-36.13(chr1:9034671-16441465)x1	AADACL3, AADACL4 +462 more	Copy number loss	See cases	GPathogenic
Select item 144297	GRCh38/hg38 1p36.23-36.21(chr1:9064492-12666744)x1	AADACL4, AGTRAP +280 more	Copy number loss	See cases	GPathogenic
Select item 153432	GRCh38/hg38 1p36.22(chr1:9378480-10317912)x3	CLSTN1, CTNNBIP1 +69 more	Copy number gain	See cases	GUncertain significance
Select item 152293	GRCh38/hg38 1p36.22-36.21(chr1:9428538-15815791)x1	AADACL3, AADACL4 +370 more	Copy number loss	See cases	GPathogenic
Select item 978247	NM_022787.4(NMNAT1):c.-72G>A	LOC126805613, NMNAT1	Single nucleotide variant (5 prime UTR variant +1 more)	Leber congenital amaurosis 9	GLikely pathogenic
Select item 865932	NM_022787.4(NMNAT1):c.-71G>C	LOC126805613, NMNAT1	Single nucleotide variant (5 prime UTR variant +1 more)	Retinal dystrophy	GUncertain significance
Select item 978238	NM_022787.4(NMNAT1):c.-69C>T	LOC126805613, NMNAT1	Single nucleotide variant (5 prime UTR variant +1 more)	Leber congenital amaurosis 9	GPathogenic
Select item 978249	NM_022787.4(NMNAT1):c.-57G>T	LOC126805613, NMNAT1	Single nucleotide variant (5 prime UTR variant +1 more)	Leber congenital amaurosis 9	GLikely pathogenic
Select item 2498392	NM_022787.4(NMNAT1):c.-57+2T>C	LOC126805613, NMNAT1	Single nucleotide variant (intron variant +1 more)	not provided	GUncertain significance
Select item 978248	NM_022787.4(NMNAT1):c.-57+4A>G	LOC126805613, NMNAT1	Single nucleotide variant (intron variant)	Leber congenital amaurosis 9	GLikely pathogenic
Select item 978244	NM_022787.4(NMNAT1):c.-57+10C>T	LOC126805613, NMNAT1	Single nucleotide variant (intron variant)	Leber congenital amaurosis 9	GLikely pathogenic
Select item 978252	NM_022787.4(NMNAT1):c.1A>G (p.Met1Val)	NMNAT1 (M1V)	Single nucleotide variant (missense variant +1 more)	Leber congenital amaurosis 9	GPathogenic
Select item 978251	NC_000001.11:g.(?_9972074)_(9975775_?)del	NMNAT1	Deletion	Leber congenital amaurosis 9	GPathogenic
Select item 978250	NC_000001.11:g.(?_9972074)_(9972188_?)del	NMNAT1	Deletion	Leber congenital amaurosis 9	GPathogenic
Select item 1147583	NM_022787.4(NMNAT1):c.12C>T (p.Ser4=)	NMNAT1	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 9	GLikely benign
Select item 966992	NM_022787.4(NMNAT1):c.13G>A (p.Glu5Lys)	NMNAT1 (E5K)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 9	GUncertain significance
Select item 1429590	NM_022787.4(NMNAT1):c.18G>T (p.Lys6Asn)	NMNAT1 (K6N)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1022764	NM_022787.4(NMNAT1):c.22G>A (p.Glu8Lys)	NMNAT1 (E8K)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 9	GUncertain significance
Select item 798231	NM_022787.4(NMNAT1):c.23A>C (p.Glu8Ala)	NMNAT1 (E8A)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 9 +1 more	GConflicting classifications of pathogenicity
Select item 37140	NM_022787.4(NMNAT1):c.25G>A (p.Val9Met)	NMNAT1 (V9M)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 9	GPathogenic
Select item 195375	NM_022787.4(NMNAT1):c.37G>A (p.Ala13Thr)	NMNAT1 (A13T)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 9 +2 more	GConflicting classifications of pathogenicity
Select item 2145245	NM_022787.4(NMNAT1):c.38C>G (p.Ala13Gly)	NMNAT1 (A13G)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 9	GUncertain significance
Select item 1376825	NM_022787.4(NMNAT1):c.38C>A (p.Ala13Asp)	NMNAT1 (A13D)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 9	GLikely pathogenic
Select item 2689594	NM_022787.4(NMNAT1):c.51C>A (p.Phe17Leu)	NMNAT1 (F17L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 190977	NM_022787.4(NMNAT1):c.53A>G (p.Asn18Ser)	NMNAT1 (N18S)	Single nucleotide variant (missense variant)	Retinal dystrophy +1 more	GPathogenic
Select item 2202316	NM_022787.4(NMNAT1):c.57C>T (p.Pro19=)	NMNAT1	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 9	GLikely benign
Select item 2202697	NM_022787.4(NMNAT1):c.59T>A (p.Ile20Asn)	NMNAT1 (I20N)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 9	GUncertain significance
Select item 2113639	NM_022787.4(NMNAT1):c.59T>C (p.Ile20Thr)	NMNAT1 (I20T)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 9	GUncertain significance
Select item 1117508	NM_022787.4(NMNAT1):c.66C>T (p.Asn22=)	NMNAT1	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 9	GLikely benign
Select item 1572687	NM_022787.4(NMNAT1):c.75C>A (p.Leu25=)	NMNAT1	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 9	GLikely benign
Select item 773987	NM_022787.4(NMNAT1):c.78G>A (p.Arg26=)	NMNAT1	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 9	GLikely benign
Select item 1653527	NM_022787.4(NMNAT1):c.88C>T (p.Leu30=)	NMNAT1	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 9	GLikely benign
Select item 1995070	NM_022787.4(NMNAT1):c.91G>T (p.Ala31Ser)	NMNAT1 (A31S)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 9	GUncertain significance
Select item 1391218	NM_022787.4(NMNAT1):c.94A>G (p.Lys32Glu)	NMNAT1 (K32E)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 9	GUncertain significance
Select item 866962	NM_022787.4(NMNAT1):c.104T>C (p.Met35Thr)	NMNAT1 (M35T)	Single nucleotide variant (missense variant)	Retinal dystrophy	GLikely pathogenic
Select item 1053336	NM_022787.4(NMNAT1):c.106A>G (p.Asn36Asp)	NMNAT1 (N36D)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 9	GUncertain significance
Select item 1563269	NM_022787.4(NMNAT1):c.108T>C (p.Asn36=)	NMNAT1	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 9	GLikely benign
Select item 424886	NM_022787.4(NMNAT1):c.109G>A (p.Gly37Arg)	NMNAT1 (G37R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2199575	NM_022787.4(NMNAT1):c.115+1G>C	NMNAT1	Single nucleotide variant (splice donor variant)	Leber congenital amaurosis 9	GLikely pathogenic
Select item 1486767	NM_022787.4(NMNAT1):c.115+1G>A	NMNAT1	Single nucleotide variant (splice donor variant)	Leber congenital amaurosis 9	GLikely pathogenic
Select item 522303	NM_022787.4(NMNAT1):c.115+3A>G	NMNAT1	Single nucleotide variant (intron variant)	NMNAT1-related disorder +2 more	GBenign/Likely benign
Select item 1122623	NM_022787.4(NMNAT1):c.115+8C>G	NMNAT1	Single nucleotide variant (intron variant)	Leber congenital amaurosis 9	GLikely benign
Select item 1946264	NM_022787.4(NMNAT1):c.115+14C>T	NMNAT1	Single nucleotide variant (intron variant)	Leber congenital amaurosis 9	GLikely benign
Select item 1540568	NM_022787.4(NMNAT1):c.115+15C>T	NMNAT1	Single nucleotide variant (intron variant)	Leber congenital amaurosis 9	GLikely benign
Select item 2161487	NM_022787.4(NMNAT1):c.115+16A>G	NMNAT1	Single nucleotide variant (intron variant)	Leber congenital amaurosis 9	GLikely benign
Select item 1641827	NM_022787.4(NMNAT1):c.116-11T>C	NMNAT1	Single nucleotide variant (intron variant)	Leber congenital amaurosis 9	GLikely benign
Select item 1435359	NM_022787.4(NMNAT1):c.116-2A>G	NMNAT1	Single nucleotide variant (splice acceptor variant)	Leber congenital amaurosis 9	GPathogenic
Select item 2704795	NM_022787.4(NMNAT1):c.120G>T (p.Arg40Ser)	NMNAT1 (R40S)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 9	GUncertain significance
Select item 1103532	NM_022787.4(NMNAT1):c.126A>G (p.Thr42=)	NMNAT1	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 9	GLikely benign
Select item 2113278	NM_022787.4(NMNAT1):c.128T>A (p.Val43Asp)	NMNAT1 (V43D)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 9	GUncertain significance
Select item 1465001	NM_022787.4(NMNAT1):c.154G>C (p.Gly52Arg)	NMNAT1 (G52R)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 9	GUncertain significance
Select item 438132	NM_022787.4(NMNAT1):c.155G>T (p.Gly52Val)	NMNAT1 (G52V)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 9	GUncertain significance
Select item 965779	NM_022787.4(NMNAT1):c.163T>A (p.Tyr55Asn)	NMNAT1 (Y55N)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 9	GUncertain significance
Select item 2081952	NM_022787.4(NMNAT1):c.165C>G (p.Tyr55Ter)	NMNAT1 (Y55*)	Single nucleotide variant (nonsense)	Leber congenital amaurosis 9	GPathogenic
Select item 2112826	NM_022787.4(NMNAT1):c.167A>G (p.Lys56Arg)	NMNAT1 (K56R)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 9	GUncertain significance
Select item 978239	NM_022787.4(NMNAT1):c.179T>G (p.Leu60Arg)	NMNAT1 (L60R)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 9	GLikely pathogenic
Select item 1041004	NM_022787.4(NMNAT1):c.184C>A (p.Pro62Thr)	NMNAT1 (P62T)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 9	GUncertain significance
Select item 2164506	NM_022787.4(NMNAT1):c.191A>G (p.Tyr64Cys)	NMNAT1 (Y64C)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 9	GUncertain significance
Select item 2498393	NM_022787.4(NMNAT1):c.193C>T (p.His65Tyr)	NMNAT1 (H65Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 982555	NM_022787.4(NMNAT1):c.196C>T (p.Arg66Trp)	NMNAT1 (R66W)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 9	GPathogenic
Select item 871049	NM_022787.4(NMNAT1):c.199G>T (p.Val67Phe)	NMNAT1 (V67F)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 972092	NM_022787.4(NMNAT1):c.205A>G (p.Met69Val)	NMNAT1 (M69V)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 9	GPathogenic
Select item 635553	NM_022787.4(NMNAT1):c.205A>T (p.Met69Leu)	NMNAT1 (M69L)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 9	GLikely pathogenic
Select item 1001921	NM_022787.4(NMNAT1):c.206T>A (p.Met69Lys)	NMNAT1 (M69K)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 9	GUncertain significance
Select item 1374446	NM_022787.4(NMNAT1):c.213A>C (p.Glu71Asp)	NMNAT1 (E71D)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 9	GUncertain significance
Select item 1082427	NM_022787.4(NMNAT1):c.216T>C (p.Leu72=)	NMNAT1	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 9	GLikely benign
Select item 978253	NM_022787.4(NMNAT1):c.238G>A (p.Val80Met)	NMNAT1 (V80M)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 9	GLikely pathogenic
Select item 978254	NM_022787.4(NMNAT1):c.244G>T (p.Val82Phe)	NMNAT1 (V82F)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 9	GLikely pathogenic
Select item 1062688	NM_022787.4(NMNAT1):c.245T>C (p.Val82Ala)	NMNAT1 (V82A)	Single nucleotide variant (missense variant)	Spondyloepiphyseal dysplasia, sensorineural hearing loss, impaired intellectual development, and leber congenital amaurosis	GLikely pathogenic
Select item 1810158	NM_022787.4(NMNAT1):c.253T>C (p.Trp85Arg)	NMNAT1 (W85R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2919586	NM_022787.4(NMNAT1):c.254G>A (p.Trp85Ter)	NMNAT1 (W85*)	Single nucleotide variant (nonsense)	Leber congenital amaurosis 9	GPathogenic
Select item 1459432	NM_022787.4(NMNAT1):c.255G>A (p.Trp85Ter)	NMNAT1 (W85*)	Single nucleotide variant (nonsense)	Leber congenital amaurosis 9	GPathogenic
Select item 438390	NM_022787.4(NMNAT1):c.271G>A (p.Glu91Lys)	NMNAT1 (E91K)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 9 +1 more	GPathogenic/Likely pathogenic
Select item 982549	NM_022787.4(NMNAT1):c.275G>A (p.Trp92Ter)	NMNAT1 (W92*)	Single nucleotide variant (nonsense)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 2856865	NM_022787.4(NMNAT1):c.282_283del (p.Glu94fs)	NMNAT1 (E94fs)	Microsatellite (frameshift variant)	Leber congenital amaurosis 9	GPathogenic
Select item 866255	NM_022787.4(NMNAT1):c.293T>G (p.Val98Gly)	NMNAT1 (V98G)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 9 +3 more	GPathogenic/Likely pathogenic
Select item 949997	NM_022787.4(NMNAT1):c.299G>A (p.Arg100Lys)	NMNAT1 (R100K)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 9	GUncertain significance
Select item 1533218	NM_022787.4(NMNAT1):c.299+12G>T	NMNAT1	Single nucleotide variant (intron variant)	Leber congenital amaurosis 9	GLikely benign
Select item 1540095	NM_022787.4(NMNAT1):c.299+13T>G	NMNAT1	Single nucleotide variant (intron variant)	Leber congenital amaurosis 9	GLikely benign
Select item 1568221	NM_022787.4(NMNAT1):c.299+19_299+21dup	NMNAT1	Duplication (intron variant)	Leber congenital amaurosis 9	GLikely benign
Select item 2811234	NM_022787.4(NMNAT1):c.299+19A>G	NMNAT1	Single nucleotide variant (intron variant)	Leber congenital amaurosis 9	GLikely benign
Select item 1050789	NM_022787.4(NMNAT1):c.299+526_*968dup	NMNAT1	Duplication (splice acceptor variant +1 more)	Spondyloepiphyseal dysplasia, sensorineural hearing loss, impaired intellectual development, and leber congenital amaurosis +1 more	GPathogenic
Select item 464669	NC_000001.11:g.(?_9981011)_(9982721_?)del	NMNAT1	Deletion	Leber congenital amaurosis 9	GPathogenic
Select item 2801595	NM_022787.4(NMNAT1):c.300-12G>C	NMNAT1	Single nucleotide variant (intron variant)	Leber congenital amaurosis 9	GLikely benign
Select item 1534503	NM_022787.4(NMNAT1):c.300-10T>G	NMNAT1	Single nucleotide variant (intron variant)	Leber congenital amaurosis 9	GLikely benign
Select item 1085466	NM_022787.4(NMNAT1):c.300-5T>C	NMNAT1	Single nucleotide variant (intron variant)	Leber congenital amaurosis 9	GLikely benign
Select item 1565517	NM_022787.4(NMNAT1):c.300-4A>G	NMNAT1	Single nucleotide variant (intron variant)	Leber congenital amaurosis 9	GLikely benign
Select item 1082430	NM_022787.4(NMNAT1):c.316T>C (p.Leu106=)	NMNAT1	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 9	GLikely benign

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