LOC101927157[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2579172	GRCh38/hg38 4p16.3-11(chr4:1-49062177)x3	LOC123477714, LOC123477715 +1267 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 2579174	GRCh38/hg38 4p16.3-q12(chr4:85624-57073230)x3	LOC129992561, LOC129992562 +1409 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 145612	GRCh38/hg38 4p14-11(chr4:40496476-49579850)x3	LOC126807045, LOC126807046 +171 more	Copy number gain	See cases	GPathogenic
Select item 57074	GRCh38/hg38 4p13-q13.1(chr4:44356201-62245882)x3	AASDH, ADGRL3 +244 more	Copy number gain	See cases	GPathogenic
Select item 58027	GRCh38/hg38 4p13-11(chr4:44577678-49081273)x3	LOC129992578, MIR8053 +81 more	Copy number gain	See cases	GPathogenic
Select item 149579	GRCh38/hg38 4p12-11(chr4:47383124-48851860)x3	ATP10D, CNGA1 +57 more	Copy number gain	See cases	GUncertain significance
Select item 348829	NM_001379270.1(CNGA1):c.372_373del	CNGA1, LOC101927157	Deletion (3 prime UTR variant)	Retinitis Pigmentosa, Recessive	GUncertain significance
Select item 902814	NM_001379270.1(CNGA1):c.*352C>T	CNGA1, LOC101927157	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GUncertain significance
Select item 902815	NM_001379270.1(CNGA1):c.*342T>C	CNGA1, LOC101927157	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GUncertain significance
Select item 348831	NM_001379270.1(CNGA1):c.*273dup	CNGA1, LOC101927157	Duplication (3 prime UTR variant)	Retinitis Pigmentosa, Recessive +1 more	GUncertain significance
Select item 348830	NM_001379270.1(CNGA1):c.*274C>T	CNGA1, LOC101927157	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa +1 more	GUncertain significance
Select item 900251	NM_001379270.1(CNGA1):c.*227A>T	CNGA1, LOC101927157	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GUncertain significance
Select item 348832	NM_001379270.1(CNGA1):c.*62A>T	CNGA1, LOC101927157	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GUncertain significance
Select item 900252	NM_001379270.1(CNGA1):c.*53A>G	CNGA1, LOC101927157	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GUncertain significance
Select item 348833	NM_001379270.1(CNGA1):c.*35C>T	CNGA1, LOC101927157	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GUncertain significance
Select item 2114474	NM_001379270.1(CNGA1):c.2051A>T (p.Asp684Val)	CNGA1, LOC101927157 (D684V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1383588	NM_001379270.1(CNGA1):c.2050G>A (p.Asp684Asn)	CNGA1, LOC101927157 (D684N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1146292	NM_001379270.1(CNGA1):c.2049C>A (p.Ile683=)	CNGA1, LOC101927157	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 796646	NM_001379270.1(CNGA1):c.2049C>T (p.Ile683=)	CNGA1, LOC101927157	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1464696	NM_001379270.1(CNGA1):c.2047A>C (p.Ile683Leu)	CNGA1, LOC101927157 (I683L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2096225	NM_001379270.1(CNGA1):c.2046C>G (p.Pro682=)	CNGA1, LOC101927157	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3027667	NM_001379270.1(CNGA1):c.2042G>C (p.Gly681Ala)	CNGA1, LOC101927157 (G681A +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 348834	NM_001379270.1(CNGA1):c.2034G>A (p.Ala678=)	LOC101927157, CNGA1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 2322933	NM_001379270.1(CNGA1):c.2033C>T (p.Ala678Val)	CNGA1, LOC101927157 (A682V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2167046	NM_001379270.1(CNGA1):c.2018T>C (p.Ile673Thr)	CNGA1, LOC101927157 (I677T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1371261	NM_001379270.1(CNGA1):c.2003C>T (p.Thr668Ile)	CNGA1, LOC101927157 (T668I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3027668	NM_001379270.1(CNGA1):c.1994T>C (p.Leu665Pro)	CNGA1, LOC101927157 (L665P +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 1045291	NM_001379270.1(CNGA1):c.1991C>A (p.Pro664Gln)	CNGA1, LOC101927157 (P664Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 841711	NM_001379270.1(CNGA1):c.1991C>T (p.Pro664Leu)	CNGA1, LOC101927157 (P664L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1403431	NM_001379270.1(CNGA1):c.1990C>A (p.Pro664Thr)	CNGA1, LOC101927157 (P664T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1562509	NM_001379270.1(CNGA1):c.1984C>T (p.Leu662=)	CNGA1, LOC101927157	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2197671	NM_001379270.1(CNGA1):c.1974T>A (p.Val658=)	CNGA1, LOC101927157	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1511213	NM_001379270.1(CNGA1):c.1969A>G (p.Lys657Glu)	CNGA1, LOC101927157 (K657E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2613147	NM_001379270.1(CNGA1):c.1967C>T (p.Thr656Ile)	CNGA1, LOC101927157 (T660I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 16933	NM_001379270.1(CNGA1):c.1960del (p.Arg654fs)	CNGA1, LOC101927157 (R654fs)	Deletion (frameshift variant)	Retinitis pigmentosa 49	GPathogenic
Select item 1346517	NM_001379270.1(CNGA1):c.1952T>C (p.Leu651Pro)	CNGA1, LOC101927157 (L651P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2007919	NM_001379270.1(CNGA1):c.1948A>G (p.Lys650Glu)	CNGA1, LOC101927157 (K650E)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2132594	NM_001379270.1(CNGA1):c.1941G>A (p.Met647Ile)	CNGA1, LOC101927157 (M647I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2186749	NM_001379270.1(CNGA1):c.1940T>C (p.Met647Thr)	CNGA1, LOC101927157 (M647T)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1299916	NM_001379270.1(CNGA1):c.1939A>G (p.Met647Val)	CNGA1, LOC101927157 (M647V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 964383	NM_001379270.1(CNGA1):c.1934A>C (p.Glu645Ala)	CNGA1, LOC101927157 (E645A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1069447	NM_001379270.1(CNGA1):c.1932T>A (p.Tyr644Ter)	CNGA1, LOC101927157 (Y644*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1486273	NM_001379270.1(CNGA1):c.1930T>C (p.Tyr644His)	CNGA1, LOC101927157 (Y644H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 958826	NM_001379270.1(CNGA1):c.1916G>A (p.Arg639Gln)	CNGA1, LOC101927157 (R639Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 631945	NM_001379270.1(CNGA1):c.1915C>T (p.Arg639Ter)	CNGA1, LOC101927157 (R639*)	Single nucleotide variant (nonsense)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 1054685	NM_001379270.1(CNGA1):c.1912G>A (p.Ala638Thr)	CNGA1, LOC101927157 (A638T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1915633	NM_001379270.1(CNGA1):c.1898T>C (p.Leu633Pro)	CNGA1, LOC101927157 (L633P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1020322	NM_001379270.1(CNGA1):c.1898T>G (p.Leu633Arg)	CNGA1, LOC101927157 (L633R)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1026792	NM_001379270.1(CNGA1):c.1891G>T (p.Asp631Tyr)	LOC101927157, CNGA1 (D631Y)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1910171	NM_001379270.1(CNGA1):c.1874G>T (p.Arg625Leu)	CNGA1, LOC101927157 (R625L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 842579	NM_001379270.1(CNGA1):c.1874G>A (p.Arg625Gln)	CNGA1, LOC101927157 (R625Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 972420	NM_001379270.1(CNGA1):c.1873C>T (p.Arg625Ter)	CNGA1, LOC101927157 (R625*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 837882	NM_001379270.1(CNGA1):c.1867G>T (p.Val623Phe)	CNGA1, LOC101927157 (V623F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2654749	NM_001379270.1(CNGA1):c.1858G>A (p.Glu620Lys)	CNGA1, LOC101927157 (E620K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3003766	NM_001379270.1(CNGA1):c.1850A>C (p.Lys617Thr)	CNGA1, LOC101927157 (K617T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1928530	NM_001379270.1(CNGA1):c.1842T>A (p.Ser614Arg)	CNGA1, LOC101927157 (S614R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1968937	NM_001379270.1(CNGA1):c.1827T>G (p.Ile609Met)	CNGA1, LOC101927157 (I609M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1958470	NM_001379270.1(CNGA1):c.1824C>A (p.Asn608Lys)	CNGA1, LOC101927157 (N608K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1132010	NM_001379270.1(CNGA1):c.1824C>T (p.Asn608=)	CNGA1, LOC101927157	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1416835	NM_001379270.1(CNGA1):c.1808G>T (p.Gly603Val)	CNGA1, LOC101927157 (G603V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 837226	NM_001379270.1(CNGA1):c.1801A>C (p.Lys601Gln)	CNGA1, LOC101927157 (K601Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 860043	NM_001379270.1(CNGA1):c.1787A>G (p.Lys596Arg)	CNGA1, LOC101927157 (K596R)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2083446	NM_001379270.1(CNGA1):c.1779G>A (p.Glu593=)	CNGA1, LOC101927157	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 934602	NM_001379270.1(CNGA1):c.1769T>C (p.Met590Thr)	CNGA1, LOC101927157 (M590T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 954391	NM_001379270.1(CNGA1):c.1768A>G (p.Met590Val)	CNGA1, LOC101927157 (M590V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2975032	NM_001379270.1(CNGA1):c.1767T>C (p.Thr589=)	CNGA1, LOC101927157	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1162161	NM_001379270.1(CNGA1):c.1758T>C (p.Asp586=)	CNGA1, LOC101927157	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2977477	NM_001379270.1(CNGA1):c.1752C>T (p.Tyr584=)	CNGA1, LOC101927157	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2813854	NM_001379270.1(CNGA1):c.1752C>A (p.Tyr584Ter)	CNGA1, LOC101927157 (Y584*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1911362	NM_001379270.1(CNGA1):c.1746T>G (p.Thr582=)	CNGA1, LOC101927157	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 866019	NM_001379270.1(CNGA1):c.1743_1746del (p.Thr582fs)	CNGA1, LOC101927157 (T582fs)	Deletion (frameshift variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 1520592	NM_001379270.1(CNGA1):c.1729C>A (p.Leu577Ile)	CNGA1, LOC101927157 (L577I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1451495	NM_001379270.1(CNGA1):c.1722del (p.Asp575fs)	CNGA1, LOC101927157 (D575fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 348835	NM_001379270.1(CNGA1):c.1712G>A (p.Cys571Tyr)	CNGA1, LOC101927157 (C571Y)	Single nucleotide variant (missense variant)	Retinitis pigmentosa	GUncertain significance
Select item 1065777	NM_001379270.1(CNGA1):c.1704_1705insT (p.Leu569fs)	CNGA1, LOC101927157 (L569fs)	Insertion (frameshift variant)	Retinitis pigmentosa 49	GLikely pathogenic
Select item 1912627	NM_001379270.1(CNGA1):c.1700C>T (p.Ser567Leu)	CNGA1, LOC101927157 (S567L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1929980	NM_001379270.1(CNGA1):c.1689T>G (p.Ser563Arg)	CNGA1, LOC101927157 (S563R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2053357	NM_001379270.1(CNGA1):c.1688G>T (p.Ser563Ile)	CNGA1, LOC101927157 (S563I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 866470	NM_001379270.1(CNGA1):c.1688del (p.Ser563fs)	CNGA1, LOC101927157 (S563fs)	Deletion (frameshift variant)	Retinal dystrophy	GLikely pathogenic
Select item 1974767	NM_001379270.1(CNGA1):c.1674G>A (p.Thr558=)	CNGA1, LOC101927157	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 866035	NM_001379270.1(CNGA1):c.1673C>T (p.Thr558Met)	CNGA1, LOC101927157 (T558M)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1922034	NM_001379270.1(CNGA1):c.1667G>A (p.Arg556Gln)	CNGA1, LOC101927157 (R556Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 438165	NM_001379270.1(CNGA1):c.1666C>T (p.Arg556Ter)	CNGA1, LOC101927157 (R629* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 957754	NM_001379270.1(CNGA1):c.1658C>G (p.Ala553Gly)	CNGA1, LOC101927157 (A553G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 862169	NM_001379270.1(CNGA1):c.1648G>A (p.Gly550Arg)	CNGA1, LOC101927157 (G550R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2118786	NM_001379270.1(CNGA1):c.1635del (p.Asn547fs)	LOC101927157, CNGA1 (N547fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 3027669	NM_001379270.1(CNGA1):c.1632C>T (p.Ser544=)	CNGA1, LOC101927157	Single nucleotide variant (synonymous variant)	Retinal dystrophy	GBenign
Select item 2087458	NM_001379270.1(CNGA1):c.1630A>C (p.Ser544Arg)	CNGA1, LOC101927157 (S544R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1349273	NM_001379270.1(CNGA1):c.1630A>G (p.Ser544Gly)	CNGA1, LOC101927157 (S544G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 951694	NM_001379270.1(CNGA1):c.1622G>A (p.Gly541Asp)	CNGA1, LOC101927157 (G541D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 143098	NM_001379270.1(CNGA1):c.1621G>A (p.Gly541Ser)	CNGA1, LOC101927157 (G614S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 348836	NM_001379270.1(CNGA1):c.1620C>T (p.Phe540=)	CNGA1, LOC101927157	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 812273	NM_001379270.1(CNGA1):c.1619T>G (p.Phe540Cys)	LOC101927157, CNGA1 (F613C +1 more)	Single nucleotide variant (missense variant)	Retinitis pigmentosa	GLikely pathogenic
Select item 597536	NM_001379270.1(CNGA1):c.1617C>G (p.Tyr539Ter)	CNGA1, LOC101927157 (Y539*)	Single nucleotide variant (nonsense)	not provided	GPathogenic/Likely pathogenic
Select item 348837	NM_001379270.1(CNGA1):c.1606G>A (p.Asp536Asn)	CNGA1, LOC101927157 (D536N)	Single nucleotide variant (missense variant)	Retinitis Pigmentosa, Recessive +1 more	GUncertain significance
Select item 1915010	NM_001379270.1(CNGA1):c.1605C>T (p.Ser535=)	CNGA1, LOC101927157	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1102923	NM_001379270.1(CNGA1):c.1602G>A (p.Leu534=)	CNGA1, LOC101927157	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2198745	NM_001379270.1(CNGA1):c.1597G>T (p.Val533Leu)	CNGA1, LOC101927157 (V533L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2000424	NM_001379270.1(CNGA1):c.1596G>A (p.Val532=)	CNGA1, LOC101927157	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 866044	NM_001379270.1(CNGA1):c.1582G>A (p.Val528Ile)	CNGA1, LOC101927157 (V528I)	Single nucleotide variant (missense variant)	Retinal dystrophy +1 more	GUncertain significance

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