9942[HGNC] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 754

<< First< Prev

Page of 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	CYP39A1, DAAM2 +2577 more	Copy number gain	See cases	GPathogenic
Select item 58427	GRCh38/hg38 6p21.2-21.1(chr6:37777369-45653843)x1	AARS2, ABCC10 +435 more	Copy number loss	See cases	GPathogenic
Select item 58428	GRCh38/hg38 6p21.1-12.3(chr6:41638061-46512949)x1	LOC123620117, LOC123620118 +324 more	Copy number loss	See cases	GPathogenic
Select item 57326	GRCh38/hg38 6p21.1(chr6:42368558-44590544)x1	AARS2, ABCC10 +221 more	Copy number loss	See cases	GPathogenic
Select item 356743	NM_000322.5(PRPH2):c.*1687C>T	PRPH2	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa +5 more	GConflicting classifications of pathogenicity
Select item 356744	NM_000322.5(PRPH2):c.*1580C>G	PRPH2	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa +5 more	GUncertain significance
Select item 356745	NM_000322.5(PRPH2):c.*1565G>A	PRPH2	Single nucleotide variant (3 prime UTR variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 356746	NM_000322.5(PRPH2):c.*1534T>C	PRPH2	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa +5 more	GBenign/Likely benign
Select item 908376	NM_000322.5(PRPH2):c.*1533A>G	PRPH2	Single nucleotide variant (3 prime UTR variant)	Cone-rod dystrophy +5 more	GUncertain significance
Select item 356747	NM_000322.5(PRPH2):c.*1524G>C	PRPH2	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa +5 more	GBenign/Likely benign
Select item 356748	NM_000322.5(PRPH2):c.*1408G>C	PRPH2	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa +5 more	GUncertain significance
Select item 356749	NM_000322.5(PRPH2):c.*1375C>T	PRPH2	Single nucleotide variant (3 prime UTR variant)	not provided +6 more	GBenign
Select item 908443	NM_000322.5(PRPH2):c.*1372C>A	PRPH2	Single nucleotide variant (3 prime UTR variant)	Adult-onset foveomacular vitelliform dystrophy +5 more	GBenign/Likely benign
Select item 1279045	NM_000322.5(PRPH2):c.*1370A>T	PRPH2	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 356750	NM_000322.5(PRPH2):c.*1357C>T	PRPH2	Single nucleotide variant (3 prime UTR variant)	not provided +6 more	GBenign
Select item 356751	NM_000322.5(PRPH2):c.*1313G>A	PRPH2	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa +5 more	GBenign/Likely benign
Select item 356752	NM_000322.5(PRPH2):c.*1299C>T	PRPH2	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa +5 more	GUncertain significance
Select item 356753	NM_000322.5(PRPH2):c.*1230C>T	PRPH2	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa +5 more	GBenign/Likely benign
Select item 356754	NM_000322.5(PRPH2):c.*1121A>C	PRPH2	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa +5 more	GBenign/Likely benign
Select item 908512	NM_000322.5(PRPH2):c.*1079G>A	PRPH2	Single nucleotide variant (3 prime UTR variant)	Adult-onset foveomacular vitelliform dystrophy +5 more	GConflicting classifications of pathogenicity
Select item 356755	NM_000322.5(PRPH2):c.*1007C>A	PRPH2	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa +5 more	GUncertain significance
Select item 356756	NM_000322.5(PRPH2):c.*1001C>A	PRPH2	Single nucleotide variant (3 prime UTR variant)	not provided +6 more	GBenign
Select item 911537	NM_000322.5(PRPH2):c.*1000C>G	PRPH2	Single nucleotide variant (3 prime UTR variant)	Adult-onset foveomacular vitelliform dystrophy +5 more	GUncertain significance
Select item 356757	NM_000322.5(PRPH2):c.*989G>A	PRPH2	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa +5 more	GBenign/Likely benign
Select item 356758	NM_000322.5(PRPH2):c.*917G>A	PRPH2	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa +5 more	GUncertain significance
Select item 356759	NM_000322.5(PRPH2):c.*898C>A	PRPH2	Single nucleotide variant (3 prime UTR variant)	not provided +6 more	GBenign
Select item 98654	NM_000322.5(PRPH2):c.851_854del	PRPH2	Deletion (3 prime UTR variant)	not provided	Gnot provided
Select item 1175233	NM_000322.5(PRPH2):c.847_850del	PRPH2	Deletion (3 prime UTR variant)	not provided	GUncertain significance
Select item 356760	NM_000322.5(PRPH2):c.*839G>A	PRPH2	Single nucleotide variant (3 prime UTR variant)	Adult-onset foveomacular vitelliform dystrophy +6 more	GBenign
Select item 356761	NM_000322.5(PRPH2):c.*797G>A	PRPH2	Single nucleotide variant (3 prime UTR variant)	Adult-onset foveomacular vitelliform dystrophy +5 more	GConflicting classifications of pathogenicity
Select item 356762	NM_000322.5(PRPH2):c.*762C>T	PRPH2	Single nucleotide variant (3 prime UTR variant)	Adult-onset foveomacular vitelliform dystrophy +6 more	GBenign
Select item 909503	NM_000322.5(PRPH2):c.*743G>A	PRPH2	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa +5 more	GUncertain significance
Select item 909504	NM_000322.5(PRPH2):c.*692C>T	PRPH2	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa +5 more	GUncertain significance
Select item 910443	NM_000322.5(PRPH2):c.*661G>A	PRPH2	Single nucleotide variant (3 prime UTR variant)	Adult-onset foveomacular vitelliform dystrophy +5 more	GUncertain significance
Select item 911661	NM_000322.5(PRPH2):c.*626A>G	PRPH2	Single nucleotide variant (3 prime UTR variant)	Cone-rod dystrophy +5 more	GUncertain significance
Select item 356763	NM_000322.5(PRPH2):c.*592A>T	PRPH2	Single nucleotide variant (3 prime UTR variant)	Adult-onset foveomacular vitelliform dystrophy +5 more	GUncertain significance
Select item 356764	NM_000322.5(PRPH2):c.*543G>A	PRPH2	Single nucleotide variant (3 prime UTR variant)	Adult-onset foveomacular vitelliform dystrophy +6 more	GBenign
Select item 910496	NM_000322.5(PRPH2):c.*509G>A	PRPH2	Single nucleotide variant (3 prime UTR variant)	Adult-onset foveomacular vitelliform dystrophy +5 more	GConflicting classifications of pathogenicity
Select item 1683854	NM_000322.5(PRPH2):c.*484dup	PRPH2	Duplication (3 prime UTR variant)	not provided	GLikely benign
Select item 356765	NM_000322.5(PRPH2):c.483_484dup	PRPH2	Duplication (3 prime UTR variant)	Patterned macular dystrophy 1 +6 more	GConflicting classifications of pathogenicity
Select item 356766	NM_000322.5(PRPH2):c.*484del	PRPH2	Deletion (3 prime UTR variant)	Patterned macular dystrophy 1 +6 more	GBenign/Likely benign
Select item 356767	NM_000322.5(PRPH2):c.468_469del	PRPH2	Deletion (3 prime UTR variant)	Patterned macular dystrophy 1 +5 more	GUncertain significance
Select item 911725	NM_000322.5(PRPH2):c.*417A>T	PRPH2	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa +5 more	GUncertain significance
Select item 356768	NM_000322.5(PRPH2):c.*351G>A	PRPH2	Single nucleotide variant (3 prime UTR variant)	Adult-onset foveomacular vitelliform dystrophy +5 more	GUncertain significance
Select item 908772	NM_000322.5(PRPH2):c.*350C>T	PRPH2	Single nucleotide variant (3 prime UTR variant)	Adult-onset foveomacular vitelliform dystrophy +5 more	GUncertain significance
Select item 356769	NM_000322.5(PRPH2):c.*276G>C	PRPH2	Single nucleotide variant (3 prime UTR variant)	Adult-onset foveomacular vitelliform dystrophy +6 more	GBenign
Select item 356770	NM_000322.5(PRPH2):c.*213A>C	PRPH2	Single nucleotide variant (3 prime UTR variant)	Adult-onset foveomacular vitelliform dystrophy +5 more	GUncertain significance
Select item 356771	NM_000322.5(PRPH2):c.*174C>T	PRPH2	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa +6 more	GBenign
Select item 356772	NM_000322.5(PRPH2):c.*154C>T	PRPH2	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa +5 more	GUncertain significance
Select item 909688	NM_000322.5(PRPH2):c.*152G>A	PRPH2	Single nucleotide variant (3 prime UTR variant)	Adult-onset foveomacular vitelliform dystrophy +5 more	GConflicting classifications of pathogenicity
Select item 908832	NM_000322.5(PRPH2):c.*152G>C	PRPH2	Single nucleotide variant (3 prime UTR variant)	Cone-rod dystrophy +5 more	GUncertain significance
Select item 356773	NM_000322.5(PRPH2):c.*145G>A	PRPH2	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa +6 more	GBenign
Select item 356774	NM_000322.5(PRPH2):c.*132C>T	PRPH2	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa +6 more	GBenign
Select item 356775	NM_000322.5(PRPH2):c.*20C>T	PRPH2	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa +5 more	GConflicting classifications of pathogenicity
Select item 167542	NM_000322.5(PRPH2):c.*13C>T	PRPH2	Single nucleotide variant (3 prime UTR variant)	Vitelliform macular dystrophy 3 +8 more	GBenign
Select item 1014885	NM_000322.5(PRPH2):c.1033G>C (p.Ala345Pro)	PRPH2 (A345P)	Single nucleotide variant (missense variant)	PRPH2-Related Disorders	GUncertain significance
Select item 1370853	NM_000322.5(PRPH2):c.1027C>T (p.Pro343Ser)	PRPH2 (P343S)	Single nucleotide variant (missense variant)	PRPH2-Related Disorders	GUncertain significance
Select item 1422904	NM_000322.5(PRPH2):c.1024G>A (p.Ala342Thr)	PRPH2 (A342T)	Single nucleotide variant (missense variant)	PRPH2-Related Disorders	GUncertain significance
Select item 908891	NM_000322.5(PRPH2):c.1024G>T (p.Ala342Ser)	PRPH2 (A342S)	Single nucleotide variant (missense variant)	Cone-rod dystrophy +5 more	GUncertain significance
Select item 1412713	NM_000322.5(PRPH2):c.1015_1020dup (p.Ala339_Gly340dup)	PRPH2	Duplication (inframe_insertion)	PRPH2-Related Disorders	GUncertain significance
Select item 1063459	NM_000322.5(PRPH2):c.1020C>T (p.Gly340=)	PRPH2	Single nucleotide variant (synonymous variant)	PRPH2-Related Disorders	GUncertain significance
Select item 2727152	NM_000322.5(PRPH2):c.1013_1018del (p.Asp338_Ala339del)	PRPH2	Deletion (inframe_deletion)	PRPH2-Related Disorders	GUncertain significance
Select item 286851	NM_000322.5(PRPH2):c.1016C>G (p.Ala339Gly)	PRPH2 (A339G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 955583	NM_000322.5(PRPH2):c.1015G>A (p.Ala339Thr)	PRPH2 (A339T)	Single nucleotide variant (missense variant)	PRPH2-Related Disorders +1 more	GBenign/Likely benign
Select item 842434	NM_000322.5(PRPH2):c.1011_1014dup (p.Ala339fs)	PRPH2 (A339fs)	Duplication (frameshift variant)	Retinal dystrophy +1 more	GUncertain significance
Select item 2153092	NM_000322.5(PRPH2):c.1014C>T (p.Asp338=)	PRPH2	Single nucleotide variant (synonymous variant)	PRPH2-Related Disorders	GLikely benign
Select item 867112	NM_000322.5(PRPH2):c.1013_1014insTGGAAGCCGAGGGCGCAGG (p.Ala339fs)	PRPH2 (A339fs)	Insertion (frameshift variant)	Retinal dystrophy	GUncertain significance
Select item 478304	NM_000322.5(PRPH2):c.1013_1014inv (p.Asp338Gly)	PRPH2 (D338G)	Inversion (missense variant)	PRPH2-Related Disorders	GLikely benign
Select item 138906	NM_000322.5(PRPH2):c.1013A>G (p.Asp338Gly)	PRPH2 (D338G)	Single nucleotide variant (missense variant)	Vitelliform macular dystrophy 3 +10 more	GBenign
Select item 1175306	NM_000322.5(PRPH2):c.1009G>A (p.Ala337Thr)	PRPH2 (A337T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 356776	NM_000322.5(PRPH2):c.1008C>T (p.Gly336=)	PRPH2	Single nucleotide variant (synonymous variant)	Retinitis pigmentosa +6 more	GConflicting classifications of pathogenicity
Select item 1175305	NM_000322.5(PRPH2):c.1005G>A (p.Glu335=)	PRPH2	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 854378	NM_000322.5(PRPH2):c.1003G>A (p.Glu335Lys)	PRPH2 (E335K)	Single nucleotide variant (missense variant)	PRPH2-Related Disorders	GUncertain significance
Select item 1084442	NM_000322.5(PRPH2):c.1002C>T (p.Ala334=)	PRPH2	Single nucleotide variant (synonymous variant)	PRPH2-Related Disorders	GLikely benign
Select item 963799	NM_000322.5(PRPH2):c.1001C>T (p.Ala334Val)	PRPH2 (A334V)	Single nucleotide variant (missense variant)	PRPH2-Related Disorders	GUncertain significance
Select item 161464	NM_000322.5(PRPH2):c.997G>A (p.Glu333Lys)	PRPH2 (E333K)	Single nucleotide variant (missense variant)	Malignant tumor of prostate	GUncertain significance
Select item 636192	NM_000322.5(PRPH2):c.995T>A (p.Val332Glu)	PRPH2 (V332E)	Single nucleotide variant (missense variant)	PRPH2-Related Disorders +1 more	GConflicting classifications of pathogenicity
Select item 1392728	NM_000322.5(PRPH2):c.994del (p.Val332fs)	PRPH2 (V332fs)	Deletion (frameshift variant)	PRPH2-Related Disorders	GPathogenic
Select item 867019	NM_000322.5(PRPH2):c.994G>A (p.Val332Met)	PRPH2 (V332M)	Single nucleotide variant (missense variant)	PRPH2-Related Disorders +1 more	GUncertain significance
Select item 2077383	NM_000322.5(PRPH2):c.993G>A (p.Gln331=)	PRPH2	Single nucleotide variant (synonymous variant)	PRPH2-Related Disorders	GLikely benign
Select item 1053626	NM_000322.5(PRPH2):c.991del (p.Gln331fs)	PRPH2 (Q331fs)	Deletion (frameshift variant)	PRPH2-Related Disorders	GPathogenic
Select item 98724	NM_000322.5(PRPH2):c.991C>T (p.Gln331Ter)	PRPH2 (Q331*)	Single nucleotide variant (nonsense)	PRPH2-Related Disorders	GPathogenic
Select item 1927155	NM_000322.5(PRPH2):c.989A>G (p.Asn330Ser)	PRPH2 (N330S)	Single nucleotide variant (missense variant)	PRPH2-Related Disorders	GUncertain significance
Select item 2776460	NM_000322.5(PRPH2):c.978G>A (p.Leu326=)	PRPH2	Single nucleotide variant (synonymous variant)	PRPH2-Related Disorders	GLikely benign
Select item 973731	NM_000322.5(PRPH2):c.974_977del (p.Lys325fs)	PRPH2 (K325fs)	Deletion (frameshift variant)	Vitelliform macular dystrophy 2	GUncertain significance
Select item 2156744	NM_000322.5(PRPH2):c.970AAG[1] (p.Lys325del)	PRPH2 (K325del)	Microsatellite (inframe_deletion)	PRPH2-Related Disorders	GUncertain significance
Select item 1384227	NM_000322.5(PRPH2):c.975G>C (p.Lys325Asn)	PRPH2 (K325N)	Single nucleotide variant (missense variant)	PRPH2-Related Disorders	GUncertain significance
Select item 867132	NM_000322.5(PRPH2):c.964_965del (p.Ser322fs)	PRPH2 (S322fs)	Microsatellite (frameshift variant)	Retinal dystrophy +1 more	GPathogenic/Likely pathogenic
Select item 2145299	NM_000322.5(PRPH2):c.963G>A (p.Glu321=)	PRPH2	Single nucleotide variant (synonymous variant)	PRPH2-Related Disorders	GLikely benign
Select item 973730	NM_000322.5(PRPH2):c.961G>T (p.Glu321Ter)	PRPH2 (E321*)	Single nucleotide variant (nonsense)	Stargardt disease	GUncertain significance
Select item 2698767	NM_000322.5(PRPH2):c.954_955del (p.Phe319fs)	PRPH2 (F319fs)	Deletion (frameshift variant)	PRPH2-Related Disorders	GPathogenic
Select item 908960	NM_000322.5(PRPH2):c.955T>C (p.Phe319Leu)	PRPH2 (F319L)	Single nucleotide variant (missense variant)	Retinal dystrophy +7 more	GConflicting classifications of pathogenicity
Select item 1994560	NM_000322.5(PRPH2):c.948del (p.Thr315_Trp316insTer)	PRPH2	Deletion (nonsense)	PRPH2-Related Disorders	GPathogenic
Select item 493432	NM_000322.5(PRPH2):c.948G>A (p.Trp316Ter)	PRPH2 (W316*)	Single nucleotide variant (nonsense)	PRPH2-Related Disorders +1 more	GPathogenic/Likely pathogenic
Select item 13176	NM_000322.5(PRPH2):c.947G>A (p.Trp316Ter)	PRPH2 (W316*)	Single nucleotide variant (nonsense)	Vitelliform macular dystrophy 3 +1 more	GPathogenic
Select item 1175304	NM_000322.5(PRPH2):c.946T>G (p.Trp316Gly)	PRPH2 (W316G)	Single nucleotide variant (missense variant)	PRPH2-Related Disorders	GUncertain significance
Select item 1605283	NM_000322.5(PRPH2):c.945C>G (p.Thr315=)	PRPH2	Single nucleotide variant (synonymous variant)	PRPH2-Related Disorders	GLikely benign
Select item 1175303	NM_000322.5(PRPH2):c.945del (p.Trp316fs)	PRPH2, UBR2 (W316fs)	Deletion (frameshift variant)	Multifocal pattern dystrophy simulating fundus flavimaculatus	GPathogenic
Select item 938075	NM_000322.5(PRPH2):c.935_939dup (p.Glu314fs)	PRPH2 (E314fs)	Duplication (frameshift variant)	PRPH2-Related Disorders	GPathogenic
Select item 1535182	NM_000322.5(PRPH2):c.939G>T (p.Pro313=)	PRPH2	Single nucleotide variant (synonymous variant)	PRPH2-Related Disorders	GLikely benign

<< First< Prev

Page of 8