1406[geneid] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 534

<< First< Prev

Page of 6

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 147383	GRCh38/hg38 19q13.32-13.33(chr19:44971420-48257402)x3	PLA2G4C, PLA2G4C-AS1 +363 more	Copy number gain	See cases	GPathogenic
Select item 59115	GRCh38/hg38 19q13.32-13.33(chr19:46658791-49050450)x3	AP2S1, ARHGAP35 +290 more	Copy number gain	See cases	GPathogenic
Select item 2579250	GRCh38/hg38 19q13.32-13.33(chr19:47257435-47886413)x1	BICRA, BICRA-AS2 +56 more	Copy number loss	Cone-rod dystrophy 2	GUncertain significance
Select item 2579248	GRCh38/hg38 19q13.33(chr19:47794370-47886413)x1	CRX, LINC01595 +3 more	Copy number loss	Cone-rod dystrophy 2	GUncertain significance
Select item 560119	Single allele	CRX, TPRX1	Deletion	not provided	GUncertain significance
Select item 329690	NM_000554.5(CRX):c.-116T>C	CRX	Single nucleotide variant	Retinitis Pigmentosa, Dominant +2 more	GBenign
Select item 329691	NM_000554.6(CRX):c.-55C>T	CRX	Single nucleotide variant (5 prime UTR variant)	Leber congenital amaurosis 7 +2 more	GUncertain significance
Select item 893403	NM_000554.6(CRX):c.-46C>T	CRX	Single nucleotide variant (5 prime UTR variant)	Retinitis pigmentosa +2 more	GUncertain significance
Select item 329692	NM_000554.6(CRX):c.-39G>C	CRX	Single nucleotide variant (5 prime UTR variant)	Leber congenital amaurosis 7 +2 more	GBenign/Likely benign
Select item 148447	GRCh38/hg38 19q13.33(chr19:47832818-47902680)x3	CRX, LINC01595 +3 more	Copy number gain	See cases	GUncertain significance
Select item 1243300	NM_000554.6(CRX):c.-35-150T>C	CRX	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1231525	NM_000554.6(CRX):c.-35-120A>G	CRX	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2579249	GRCh38/hg38 19q13.33(chr19:47834312-47840923)x1	CRX	Copy number loss	Cone-rod dystrophy 2	GUncertain significance
Select item 618048	NM_000554.6(CRX):c.-29T>A	CRX	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 853189	NM_000554.6(CRX):c.8C>T (p.Ala3Val)	CRX (A3V)	Single nucleotide variant (missense variant)	Retinal dystrophy +2 more	GUncertain significance
Select item 1578839	NM_000554.6(CRX):c.9G>A (p.Ala3=)	CRX	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 7 +1 more	GLikely benign
Select item 1023327	NM_000554.6(CRX):c.11A>G (p.Tyr4Cys)	CRX (Y4C)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 7 +1 more	GUncertain significance
Select item 1450546	NM_000554.6(CRX):c.20C>T (p.Pro7Leu)	CRX (P7L)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 7 +1 more	GUncertain significance
Select item 99598	NM_000554.6(CRX):c.24dup (p.Pro9fs)	CRX (P9fs)	Duplication (frameshift variant)	Retinal dystrophy	GLikely pathogenic
Select item 1036752	NM_000554.6(CRX):c.21G>A (p.Pro7=)	CRX	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 7 +1 more	GLikely benign
Select item 1041530	NM_000554.6(CRX):c.22G>C (p.Gly8Arg)	CRX (G8R)	Single nucleotide variant (missense variant)	Cone-rod dystrophy 2 +1 more	GLikely benign
Select item 1485660	NM_000554.6(CRX):c.25C>T (p.Pro9Ser)	CRX (P9S)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 7 +1 more	GUncertain significance
Select item 329693	NM_000554.6(CRX):c.28C>G (p.His10Asp)	CRX (H10D)	Single nucleotide variant (missense variant)	Retinitis pigmentosa +3 more	GConflicting classifications of pathogenicity
Select item 981463	NM_000554.6(CRX):c.29A>G (p.His10Arg)	CRX (H10R)	Single nucleotide variant (missense variant)	Usher syndrome	GUncertain significance
Select item 2947663	NM_000554.6(CRX):c.37G>C (p.Val13Leu)	CRX (V13L)	Single nucleotide variant (missense variant)	Cone-rod dystrophy 2 +1 more	GUncertain significance
Select item 1484331	NM_000554.6(CRX):c.42C>A (p.Asn14Lys)	CRX (N14K)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 7 +1 more	GUncertain significance
Select item 1080901	NM_000554.6(CRX):c.42C>T (p.Asn14=)	CRX	Single nucleotide variant (synonymous variant)	Cone-rod dystrophy 2 +1 more	GLikely benign
Select item 1413008	NM_000554.6(CRX):c.43G>A (p.Ala15Thr)	CRX (A15T)	Single nucleotide variant (missense variant)	Cone-rod dystrophy 2 +1 more	GUncertain significance
Select item 867204	NM_000554.6(CRX):c.43G>C (p.Ala15Pro)	CRX (A15P)	Single nucleotide variant (missense variant)	Retinal dystrophy +2 more	GUncertain significance
Select item 2949200	NM_000554.6(CRX):c.52C>T (p.Leu18=)	CRX	Single nucleotide variant (synonymous variant)	Cone-rod dystrophy 2 +1 more	GLikely benign
Select item 2076648	NM_000554.6(CRX):c.60C>T (p.Gly20=)	CRX	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 7 +1 more	GLikely benign
Select item 1496893	NM_000554.6(CRX):c.60C>G (p.Gly20=)	CRX	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 7 +1 more	GUncertain significance
Select item 1056395	NM_000554.6(CRX):c.76_80del (p.Met26fs)	CRX (M26fs)	Deletion (frameshift variant)	Cone-rod dystrophy 2 +1 more	GPathogenic
Select item 329694	NM_000554.6(CRX):c.78G>A (p.Met26Ile)	CRX (M26I)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 7 +2 more	GUncertain significance
Select item 1531403	NM_000554.6(CRX):c.81C>T (p.His27=)	CRX	Single nucleotide variant (synonymous variant)	Cone-rod dystrophy 2 +1 more	GLikely benign
Select item 1060944	NM_000554.6(CRX):c.83A>G (p.Gln28Arg)	CRX (Q28R)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 7 +1 more	GUncertain significance
Select item 2152597	NM_000554.6(CRX):c.85G>A (p.Ala29Thr)	CRX (A29T)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 7 +1 more	GUncertain significance
Select item 2122560	NM_000554.6(CRX):c.89T>A (p.Val30Glu)	CRX (V30E)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 7 +1 more	GUncertain significance
Select item 236496	NM_000554.6(CRX):c.100+1G>C	CRX	Single nucleotide variant (splice donor variant)	Retinal dystrophy	GUncertain significance
Select item 2092800	NM_000554.6(CRX):c.100+2T>G	CRX	Single nucleotide variant (splice donor variant)	Leber congenital amaurosis 7 +1 more	GPathogenic
Select item 99593	NM_000554.6(CRX):c.100+2T>C	CRX	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 969278	NM_000554.6(CRX):c.100+3G>C	CRX	Single nucleotide variant (intron variant)	Leber congenital amaurosis 7 +1 more	GUncertain significance
Select item 422939	NM_000554.6(CRX):c.100+3_100+5delinsTTA	CRX	Indel (intron variant)	Leber congenital amaurosis 7 +2 more	GPathogenic/Likely pathogenic
Select item 3064069	NM_000554.6(CRX):c.100+5G>A	CRX	Single nucleotide variant (intron variant)	Cone-rod dystrophy 2	GUncertain significance
Select item 759454	NM_000554.6(CRX):c.100+8C>T	CRX	Single nucleotide variant (intron variant)	Cone-rod dystrophy 2 +1 more	GLikely benign
Select item 99592	NM_000554.6(CRX):c.100+12C>T	CRX	Single nucleotide variant (intron variant)	Cone-rod dystrophy 2 +4 more	GBenign
Select item 1138418	NM_000554.6(CRX):c.100+13G>A	CRX	Single nucleotide variant (intron variant)	Leber congenital amaurosis 7 +1 more	GLikely benign
Select item 1260296	NM_000554.6(CRX):c.100+97G>A	CRX	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1175701	NM_000554.6(CRX):c.101-200T>C	CRX	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1292985	NM_000554.6(CRX):c.101-147A>G	CRX	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 99595	NM_000554.6(CRX):c.101-65A>T	CRX	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 99594	NM_000554.6(CRX):c.101-13C>G	CRX	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 329695	NM_000554.6(CRX):c.101-12A>G	CRX	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 2109035	NM_000554.6(CRX):c.101-10C>T	CRX	Single nucleotide variant (intron variant)	Leber congenital amaurosis 7 +1 more	GLikely benign
Select item 1654322	NM_000554.6(CRX):c.101-6C>T	CRX	Single nucleotide variant (intron variant)	Leber congenital amaurosis 7 +1 more	GLikely benign
Select item 166968	NM_000554.6(CRX):c.101-3del	CRX	Deletion (intron variant)	Cone-rod dystrophy 2 +2 more	GConflicting classifications of pathogenicity
Select item 983150	NM_000554.6(CRX):c.101-1G>A	CRX	Single nucleotide variant (splice acceptor variant)	Retinal dystrophy	GLikely pathogenic
Select item 858053	NM_000554.6(CRX):c.101-1G>T	CRX	Single nucleotide variant (splice acceptor variant)	Cone-rod dystrophy 2 +1 more	GPathogenic
Select item 285904	NM_000554.6(CRX):c.102C>T (p.Ser34=)	CRX	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 1468996	NM_000554.6(CRX):c.108del (p.Arg37fs)	CRX (R37fs)	Deletion (frameshift variant)	Leber congenital amaurosis 7 +1 more	GUncertain significance
Select item 329696	NM_000554.6(CRX):c.105C>A (p.Ala35=)	CRX	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 7 +2 more	GUncertain significance
Select item 1720406	NM_000554.6(CRX):c.106C>T (p.Pro36Ser)	CRX (P36S)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 7 +1 more	GUncertain significance
Select item 161470	NM_000554.6(CRX):c.107C>A (p.Pro36His)	CRX (P36H)	Single nucleotide variant (missense variant)	Malignant tumor of prostate	GUncertain significance
Select item 1947862	NM_000554.6(CRX):c.109A>C (p.Arg37=)	CRX	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 7 +1 more	GLikely benign
Select item 2014678	NM_000554.6(CRX):c.116_127del (p.Gln39_Glu42del)	CRX	Deletion (inframe_deletion)	Leber congenital amaurosis 7 +1 more	GPathogenic
Select item 864383	NM_000554.6(CRX):c.118C>T (p.Arg40Trp)	CRX (R40W)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 2037356	NM_000554.6(CRX):c.119G>C (p.Arg40Pro)	CRX (R40P)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 7 +1 more	GUncertain significance
Select item 437959	NM_000554.6(CRX):c.119G>A (p.Arg40Gln)	CRX (R40Q)	Single nucleotide variant (missense variant)	Cone-rod dystrophy 2 +1 more	GPathogenic
Select item 7418	NM_000554.6(CRX):c.121C>T (p.Arg41Trp)	CRX (R41W)	Single nucleotide variant (missense variant)	Retinal dystrophy +4 more	GPathogenic
Select item 7421	NM_000554.6(CRX):c.122G>A (p.Arg41Gln)	CRX (R41Q)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 1387234	NM_000554.6(CRX):c.125_128dup (p.Thr44fs)	CRX (T44fs)	Duplication (frameshift variant)	Leber congenital amaurosis 7 +1 more	GUncertain significance
Select item 734647	NM_000554.6(CRX):c.123G>A (p.Arg41=)	CRX	Single nucleotide variant (synonymous variant)	Cone-rod dystrophy 2 +1 more	GLikely benign
Select item 216914	NM_000554.6(CRX):c.124G>A (p.Glu42Lys)	CRX (E42K)	Single nucleotide variant (missense variant)	Retinal dystrophy +2 more	GConflicting classifications of pathogenicity
Select item 1047499	NM_000554.6(CRX):c.127C>A (p.Arg43Ser)	CRX (R43S)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 7 +1 more	GUncertain significance
Select item 636019	NM_000554.6(CRX):c.127C>T (p.Arg43Cys)	CRX (R43C)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 7 +1 more	GPathogenic
Select item 1514396	NM_000554.6(CRX):c.128G>T (p.Arg43Leu)	CRX (R43L)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 7 +1 more	GUncertain significance
Select item 956064	NM_000554.6(CRX):c.128G>A (p.Arg43His)	CRX (R43H)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 732769	NM_000554.6(CRX):c.129C>T (p.Arg43=)	CRX	Single nucleotide variant (synonymous variant)	Cone-rod dystrophy 2 +1 more	GLikely benign
Select item 2420989	NM_000554.6(CRX):c.133A>G (p.Thr45Ala)	CRX (T45A)	Single nucleotide variant (missense variant)	Cone-rod dystrophy 2 +1 more	GUncertain significance
Select item 2921568	NM_000554.6(CRX):c.138C>T (p.Phe46=)	CRX	Single nucleotide variant (synonymous variant)	Cone-rod dystrophy 2 +1 more	GLikely benign
Select item 931935	NM_000554.6(CRX):c.139A>C (p.Thr47Pro)	CRX (T47P)	Single nucleotide variant (missense variant)	Retinitis pigmentosa	GUncertain significance
Select item 1435083	NM_000554.6(CRX):c.140C>T (p.Thr47Ile)	CRX (T47I)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 7 +2 more	GUncertain significance
Select item 1400605	NM_000554.6(CRX):c.142C>T (p.Arg48Trp)	CRX (R48W)	Single nucleotide variant (missense variant)	Retinal dystrophy +2 more	GUncertain significance
Select item 2926332	NM_000554.6(CRX):c.143G>A (p.Arg48Gln)	CRX (R48Q)	Single nucleotide variant (missense variant)	Cone-rod dystrophy 2 +1 more	GUncertain significance
Select item 2945179	NM_000554.6(CRX):c.151C>T (p.Leu51=)	CRX	Single nucleotide variant (synonymous variant)	Cone-rod dystrophy 2 +1 more	GLikely benign
Select item 944597	NM_000554.6(CRX):c.152_153del (p.Leu51fs)	CRX (L51fs)	Deletion (frameshift variant)	Leber congenital amaurosis 7 +1 more	GPathogenic
Select item 2927229	NM_000554.6(CRX):c.159del (p.Glu53fs)	CRX (E53fs)	Deletion (frameshift variant)	Cone-rod dystrophy 2 +1 more	GPathogenic
Select item 1137965	NM_000554.6(CRX):c.159G>A (p.Glu53=)	CRX	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 7 +1 more	GLikely benign
Select item 523984	NM_000554.6(CRX):c.164dup (p.Ala56fs)	CRX (A56fs)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 2934985	NM_000554.6(CRX):c.165G>A (p.Glu55=)	CRX	Single nucleotide variant (synonymous variant)	Cone-rod dystrophy 2 +1 more	GLikely benign
Select item 99596	NM_000554.6(CRX):c.166G>A (p.Ala56Thr)	CRX (A56T)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 7 +1 more	GLikely pathogenic
Select item 1425620	NM_000554.6(CRX):c.176_177del (p.Ala59fs)	CRX (A59fs)	Deletion (frameshift variant)	Cone-rod dystrophy 2 +1 more	GUncertain significance
Select item 2927759	NM_000554.6(CRX):c.177C>T (p.Ala59=)	CRX	Single nucleotide variant (synonymous variant)	Cone-rod dystrophy 2 +1 more	GLikely benign
Select item 1487506	NM_000554.6(CRX):c.182C>T (p.Thr61Ile)	CRX (T61I)	Single nucleotide variant (missense variant)	Cone-rod dystrophy 2 +1 more	GUncertain significance
Select item 973905	NM_000554.6(CRX):c.191del (p.Pro64fs)	CRX (P64fs)	Deletion (frameshift variant)	Leber congenital amaurosis 7	GPathogenic
Select item 143085	NM_000554.6(CRX):c.193G>C (p.Asp65His)	CRX (D65H)	Single nucleotide variant (missense variant)	Retinal dystrophy	GLikely pathogenic
Select item 1628786	NM_000554.6(CRX):c.195C>T (p.Asp65=)	CRX	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 7 +1 more	GLikely benign
Select item 1486168	NM_000554.6(CRX):c.196G>T (p.Val66Phe)	CRX (V66F)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 7 +1 more	GUncertain significance
Select item 99597	NM_000554.6(CRX):c.196G>A (p.Val66Ile)	CRX (V66I)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 1 +6 more	GBenign/Likely benign
Select item 2090923	NM_000554.6(CRX):c.198C>T (p.Val66=)	CRX	Single nucleotide variant (synonymous variant)	Cone-rod dystrophy 2 +1 more	GLikely benign

<< First< Prev

Page of 6