5148[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58703	GRCh38/hg38 17q24.3-25.3(chr17:69209079-83086677)x3	LOC130061805, LOC130061806 +1033 more	Copy number gain	See cases	GPathogenic
Select item 155275	GRCh38/hg38 17q24.3-25.3(chr17:69916435-83102552)x3	AANAT, AATK +1013 more	Copy number gain	See cases	GPathogenic
Select item 57076	GRCh38/hg38 17q25.3(chr17:78092236-83086677)x3	AATK, ACTG1 +513 more	Copy number gain	See cases	GPathogenic
Select item 57263	GRCh38/hg38 17q25.3(chr17:78901959-83086677)x3	LOC126862671, LOC126862672 +387 more	Copy number gain	See cases	GPathogenic
Select item 58714	GRCh38/hg38 17q25.3(chr17:78918650-83021095)x3	AATK, ACTG1 +385 more	Copy number gain	See cases	GPathogenic
Select item 149717	GRCh38/hg38 17q25.3(chr17:81008196-83102584)x3	AATK, ACTG1 +262 more	Copy number gain	See cases	GPathogenic
Select item 153720	GRCh38/hg38 17q25.3(chr17:81401966-83084062)x1	LOC130062002, LOC130062003 +226 more	Copy number loss	See cases	GLikely pathogenic
Select item 325850	NM_002602.4(PDE6G):c.*570T>C	PDE6G	Single nucleotide variant (3 prime UTR variant +1 more)	Retinitis pigmentosa	GBenign
Select item 889969	NM_002602.4(PDE6G):c.*563T>C	PDE6G	Single nucleotide variant (3 prime UTR variant +1 more)	Retinitis pigmentosa	GLikely benign
Select item 889970	NM_002602.4(PDE6G):c.*529C>T	PDE6G	Single nucleotide variant (3 prime UTR variant +1 more)	Retinitis pigmentosa	GUncertain significance
Select item 325851	NM_002602.4(PDE6G):c.*526C>T	PDE6G	Single nucleotide variant (3 prime UTR variant +1 more)	Retinitis pigmentosa	GLikely benign
Select item 325852	NM_002602.4(PDE6G):c.*484T>G	PDE6G	Single nucleotide variant (3 prime UTR variant +1 more)	Retinitis pigmentosa	GBenign
Select item 325853	NM_002602.4(PDE6G):c.*420G>A	PDE6G	Single nucleotide variant (3 prime UTR variant +1 more)	Retinitis pigmentosa	GUncertain significance
Select item 325854	NM_002602.4(PDE6G):c.*399C>T	PDE6G	Single nucleotide variant (3 prime UTR variant +1 more)	Retinitis pigmentosa	GBenign
Select item 325855	NM_002602.4(PDE6G):c.*393C>T	PDE6G	Single nucleotide variant (3 prime UTR variant +1 more)	Retinitis pigmentosa	GBenign
Select item 891536	NM_002602.4(PDE6G):c.*342C>T	PDE6G	Single nucleotide variant (3 prime UTR variant +1 more)	Retinitis pigmentosa	GUncertain significance
Select item 325856	NM_002602.4(PDE6G):c.*316G>A	PDE6G	Single nucleotide variant (3 prime UTR variant +1 more)	Retinitis pigmentosa	GBenign
Select item 325857	NM_002602.4(PDE6G):c.*274C>T	PDE6G	Single nucleotide variant (3 prime UTR variant +1 more)	Retinitis pigmentosa	GBenign
Select item 325858	NM_002602.4(PDE6G):c.*233T>C	PDE6G	Single nucleotide variant (3 prime UTR variant +1 more)	Retinitis pigmentosa	GBenign
Select item 891781	NM_002602.4(PDE6G):c.*207G>A	PDE6G	Single nucleotide variant (3 prime UTR variant +1 more)	Retinitis pigmentosa	GUncertain significance
Select item 325859	NM_002602.4(PDE6G):c.*167del	PDE6G	Deletion (3 prime UTR variant +1 more)	Retinitis Pigmentosa, Recessive	GLikely benign
Select item 325860	NM_002602.4(PDE6G):c.*45G>A	PDE6G	Single nucleotide variant (3 prime UTR variant +1 more)	Retinitis pigmentosa 57 +1 more	GBenign
Select item 891782	NM_002602.4(PDE6G):c.*4G>C	PDE6G	Single nucleotide variant (3 prime UTR variant +1 more)	Retinitis pigmentosa	GUncertain significance
Select item 167442	NM_002602.4(PDE6G):c.*4G>A	PDE6G	Single nucleotide variant (3 prime UTR variant +1 more)	Retinitis pigmentosa +1 more	GUncertain significance
Select item 1105315	NM_002602.4(PDE6G):c.258C>T (p.Ile86=)	PDE6G	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1380060	NM_002602.4(PDE6G):c.256A>T (p.Ile86Phe)	PDE6G (I86F)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1010002	NM_002602.4(PDE6G):c.249A>G (p.Gln83=)	PDE6G	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2152964	NM_002602.4(PDE6G):c.248A>G (p.Gln83Arg)	PDE6G (Q83R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2096414	NM_002602.4(PDE6G):c.247C>T (p.Gln83Ter)	PDE6G (Q83*)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 2560045	NM_002602.4(PDE6G):c.245C>T (p.Ala82Val)	PDE6G (A82V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1388924	NM_002602.4(PDE6G):c.238G>A (p.Glu80Lys)	PDE6G (E80K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2971539	NM_002602.4(PDE6G):c.237C>T (p.His79=)	PDE6G	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2066646	NM_002602.4(PDE6G):c.227T>C (p.Leu76Pro)	PDE6G (L76P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1562054	NM_002602.4(PDE6G):c.222C>T (p.Asn74=)	PDE6G	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1077399	NM_002602.4(PDE6G):c.216C>T (p.Ala72=)	PDE6G	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1379793	NM_002602.4(PDE6G):c.215C>G (p.Ala72Gly)	PDE6G (A72G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 954865	NM_002602.4(PDE6G):c.214G>A (p.Ala72Thr)	PDE6G (A72T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2035210	NM_002602.4(PDE6G):c.210G>T (p.Trp70Cys)	PDE6G (W70C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1658047	NM_002602.4(PDE6G):c.207T>C (p.Pro69=)	PDE6G	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2126950	NM_002602.4(PDE6G):c.206C>A (p.Pro69His)	PDE6G (P69H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 493223	NM_002602.4(PDE6G):c.206del (p.Pro69fs)	PDE6G (P69fs)	Deletion (frameshift variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1998688	NM_002602.4(PDE6G):c.194C>T (p.Thr65Ile)	PDE6G (T65I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1912071	NM_002602.4(PDE6G):c.188-14C>T	PDE6G	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1495991	NM_002602.4(PDE6G):c.188-14C>A	PDE6G	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1637818	NM_002602.4(PDE6G):c.188-20G>A	PDE6G	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1568825	NM_002602.4(PDE6G):c.188-20G>T	PDE6G	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1600008	NM_002602.4(PDE6G):c.187+16G>A	PDE6G	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1539295	NM_002602.4(PDE6G):c.187+13C>T	PDE6G	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1916989	NM_002602.4(PDE6G):c.187+8G>A	PDE6G	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1539213	NM_002602.4(PDE6G):c.187+7C>T	PDE6G	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 13102	NM_002602.4(PDE6G):c.187+1G>T	PDE6G	Single nucleotide variant (splice donor variant)	Retinitis pigmentosa +1 more	GPathogenic
Select item 3026831	NM_002602.4(PDE6G):c.181G>A (p.Gly61Arg)	PDE6G (G61R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2036183	NM_002602.4(PDE6G):c.179T>C (p.Leu60Pro)	PDE6G (L60P)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1039676	NM_002602.4(PDE6G):c.176G>A (p.Gly59Asp)	PDE6G (G59D)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 891783	NM_002602.4(PDE6G):c.175G>A (p.Gly59Ser)	PDE6G (G59S)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1535469	NM_002602.4(PDE6G):c.162C>T (p.Ile54=)	PDE6G	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 726543	NM_002602.4(PDE6G):c.156C>T (p.Asp52=)	PDE6G	Single nucleotide variant (synonymous variant +1 more)	Retinitis pigmentosa +2 more	GBenign/Likely benign
Select item 2172301	NM_002602.4(PDE6G):c.155A>C (p.Asp52Ala)	PDE6G (D52A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1621888	NM_002602.4(PDE6G):c.153G>A (p.Gly51=)	PDE6G	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2082224	NM_002602.4(PDE6G):c.148T>C (p.Phe50Leu)	PDE6G (F50L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2124653	NM_002602.4(PDE6G):c.147-7C>G	PDE6G	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1005311	NM_002602.4(PDE6G):c.147-9T>A	PDE6G	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1545766	NM_002602.4(PDE6G):c.147-18_147-16del	PDE6G	Deletion (intron variant)	not provided	GLikely benign
Select item 2001815	NM_002602.4(PDE6G):c.147-20T>C	PDE6G	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1908970	NM_002602.4(PDE6G):c.146+20G>A	PDE6G	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1534724	NM_002602.4(PDE6G):c.146+18del	PDE6G	Deletion (intron variant)	not provided	GLikely benign
Select item 1943624	NM_002602.4(PDE6G):c.146+12T>C	PDE6G	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1087548	NM_002602.4(PDE6G):c.146+10G>A	PDE6G	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1054484	NM_002602.4(PDE6G):c.146+4A>G	PDE6G	Single nucleotide variant (intron variant)	Retinitis pigmentosa 57 +1 more	GUncertain significance
Select item 866720	NM_002602.4(PDE6G):c.146+3A>G	PDE6G	Single nucleotide variant (intron variant)	Retinal dystrophy	GUncertain significance
Select item 1096514	NM_002602.4(PDE6G):c.140T>G (p.Val47Gly)	PDE6G (V47G)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1372692	NM_002602.4(PDE6G):c.139G>A (p.Val47Ile)	PDE6G (V47I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1947775	NM_002602.4(PDE6G):c.138C>T (p.Gly46=)	PDE6G	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1560526	NM_002602.4(PDE6G):c.123G>A (p.Lys41=)	PDE6G	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 889344	NM_002602.4(PDE6G):c.117G>C (p.Lys39Asn)	PDE6G (K39N)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1356607	NM_002602.4(PDE6G):c.98G>A (p.Arg33Gln)	PDE6G (R33Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1943178	NM_002602.4(PDE6G):c.97C>T (p.Arg33Ter)	PDE6G (R33*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1714756	NM_002602.4(PDE6G):c.97C>G (p.Arg33Gly)	PDE6G (R33G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1021394	NM_002602.4(PDE6G):c.95del (p.Gln32fs)	PDE6G (Q32fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1927947	NM_002602.4(PDE6G):c.83C>T (p.Pro28Leu)	PDE6G (P28L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1450371	NM_002602.4(PDE6G):c.83C>A (p.Pro28His)	PDE6G (P28H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 889345	NM_002602.4(PDE6G):c.81C>T (p.Pro27=)	PDE6G	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2106292	NM_002602.4(PDE6G):c.79C>T (p.Pro27Ser)	PDE6G (P27S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 738861	NM_002602.4(PDE6G):c.74A>G (p.Lys25Arg)	PDE6G (K25R)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1634153	NM_002602.4(PDE6G):c.72G>A (p.Arg24=)	PDE6G	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2312685	NM_002602.4(PDE6G):c.71G>T (p.Arg24Met)	PDE6G (R24M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1465534	NM_002602.4(PDE6G):c.69dup (p.Arg24fs)	PDE6G (R24fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 3028499	NM_002602.4(PDE6G):c.56G>T (p.Gly19Val)	PDE6G (G19V)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 2145538	NM_002602.4(PDE6G):c.56del (p.Gly19fs)	PDE6G (G19fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1354845	NM_002602.4(PDE6G):c.52G>A (p.Gly18Arg)	PDE6G (G18R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 889346	NM_002602.4(PDE6G):c.51C>T (p.Ala17=)	PDE6G	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1645442	NM_002602.4(PDE6G):c.39C>T (p.Ala13=)	PDE6G	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1996248	NM_002602.4(PDE6G):c.32G>T (p.Arg11Leu)	PDE6G (R11L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1952725	NM_002602.4(PDE6G):c.32G>A (p.Arg11Gln)	PDE6G (R11Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 934109	NM_002602.4(PDE6G):c.31C>T (p.Arg11Trp)	PDE6G (R11W)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3028500	NM_002602.4(PDE6G):c.27G>A (p.Glu9=)	PDE6G	Single nucleotide variant (synonymous variant)	Retinal dystrophy	GUncertain significance
Select item 1519594	NM_002602.4(PDE6G):c.27G>C (p.Glu9Asp)	PDE6G (E9D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1149568	NM_002602.4(PDE6G):c.21G>A (p.Lys7=)	PDE6G	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3028501	NM_002602.4(PDE6G):c.17C>T (p.Pro6Leu)	PDE6G (P6L)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 1130171	NM_002602.4(PDE6G):c.15G>A (p.Pro5=)	PDE6G	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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