6295[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59158	GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3	LOC129935343, LOC129935344 +1703 more	Copy number gain	See cases	GPathogenic
Select item 154206	GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3	AAMP, ABCA12 +1687 more	Copy number gain	See cases	GPathogenic
Select item 59159	GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3	LOC129935726, LOC129935727 +1665 more	Copy number gain	See cases	GPathogenic
Select item 57419	GRCh38/hg38 2q32.3-37.3(chr2:194898783-236473913)x3	LOC129935713, LOC129935714 +1299 more	Copy number gain	See cases	GPathogenic
Select item 146683	GRCh38/hg38 2q34-37.3(chr2:210579676-242126245)x3	AAMP, ABCA12 +1148 more	Copy number gain	See cases	GPathogenic
Select item 155149	GRCh38/hg38 2q35-37.3(chr2:218101759-242126245)x3	LOC110120629, LOC110120691 +986 more	Copy number gain	See cases	GPathogenic
Select item 58847	GRCh38/hg38 2q36.3-37.3(chr2:226978129-236886599)x1	ACKR3, AGAP1 +393 more	Copy number loss	See cases	GPathogenic
Select item 58848	GRCh38/hg38 2q36.3-37.2(chr2:227343278-235339168)x1	CCL20, CHRND +347 more	Copy number loss	See cases	GPathogenic
Select item 59173	GRCh38/hg38 2q36.3-37.3(chr2:227803148-242086301)x3	LOC129935966, LOC129935967 +630 more	Copy number gain	See cases	GPathogenic
Select item 147843	GRCh38/hg38 2q36.3-37.2(chr2:228014149-234976424)x3	LOC126806558, LOC126806559 +309 more	Copy number gain	See cases	GPathogenic
Select item 144756	GRCh38/hg38 2q36.3-37.3(chr2:228723579-241404867)x3	LOC132088828, LOC132088829 +576 more	Copy number gain	See cases	GPathogenic
Select item 161051	GRCh38/hg38 2q37.1-37.3(chr2:231770279-242126245)x1	LOC129935965, LOC129935966 +455 more	Copy number loss	See cases	GPathogenic
Select item 34724	GRCh38/hg38 2q37.1-37.3(chr2:231770279-242126245)x1	ACKR3, AGAP1 +455 more	Copy number loss	See cases	GPathogenic
Select item 335062	NM_000541.4(SAG):c.-331G>T	SAG	Single nucleotide variant	Retinitis Pigmentosa, Recessive +1 more	GUncertain significance
Select item 335063	NM_000541.4(SAG):c.-278A>G	SAG	Single nucleotide variant	Retinitis Pigmentosa, Recessive +1 more	GUncertain significance
Select item 335064	NM_000541.5(SAG):c.-223C>G	SAG	Single nucleotide variant (5 prime UTR variant)	Retinitis pigmentosa +1 more	GConflicting classifications of pathogenicity
Select item 896657	NM_000541.5(SAG):c.-69G>A	SAG	Single nucleotide variant (5 prime UTR variant)	Retinitis pigmentosa +1 more	GConflicting classifications of pathogenicity
Select item 896658	NM_000541.5(SAG):c.-28-10A>G	SAG	Single nucleotide variant (intron variant)	Retinitis pigmentosa +1 more	GUncertain significance
Select item 335065	NM_000541.5(SAG):c.-11G>A	SAG	Single nucleotide variant (5 prime UTR variant)	Retinitis pigmentosa +1 more	GUncertain significance
Select item 2503179	NM_000541.5(SAG):c.-5A>G	SAG	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 3008843	NM_000541.5(SAG):c.5C>T (p.Ala2Val)	SAG (A2V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1157265	NM_000541.5(SAG):c.6A>G (p.Ala2=)	SAG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1908380	NM_000541.5(SAG):c.12C>T (p.Ser4=)	SAG	Single nucleotide variant (synonymous variant)	Retinal dystrophy +1 more	GConflicting classifications of pathogenicity
Select item 958764	NM_000541.5(SAG):c.13G>A (p.Gly5Arg)	SAG (G5R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1017595	NM_000541.5(SAG):c.17A>G (p.Lys6Arg)	SAG (K6R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2745571	NM_000541.5(SAG):c.19A>C (p.Thr7Pro)	SAG (T7P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2017019	NM_000541.5(SAG):c.24C>T (p.Ser8=)	SAG	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1948212	NM_000541.5(SAG):c.30C>T (p.Ser10=)	SAG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 791237	NM_000541.5(SAG):c.31G>A (p.Glu11Lys)	SAG (E11K)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1088116	NM_000541.5(SAG):c.35C>T (p.Pro12Leu)	SAG (P12L)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1924889	NM_000541.5(SAG):c.36G>A (p.Pro12=)	SAG	Single nucleotide variant (synonymous variant)	Retinal dystrophy +1 more	GConflicting classifications of pathogenicity
Select item 1381222	NM_000541.5(SAG):c.52A>G (p.Lys18Glu)	SAG (K18E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1015446	NM_000541.5(SAG):c.64C>T (p.Arg22Trp)	SAG (R22W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1450481	NM_000541.5(SAG):c.65G>A (p.Arg22Gln)	SAG (R22Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2988691	NM_000541.5(SAG):c.66G>A (p.Arg22=)	SAG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2064144	NM_000541.5(SAG):c.67G>C (p.Asp23His)	SAG (D23H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1511520	NM_000541.5(SAG):c.72_75+15del	SAG	Deletion (splice donor variant)	not provided	GLikely pathogenic
Select item 1452228	NM_000541.5(SAG):c.74C>A (p.Ser25Ter)	SAG (S25*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 972665	NM_000541.5(SAG):c.74C>T (p.Ser25Leu)	SAG (S25L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 813236	NM_000541.5(SAG):c.75G>A (p.Ser25=)	SAG	Single nucleotide variant (synonymous variant)	Cone dystrophy +1 more	GConflicting classifications of pathogenicity
Select item 897119	NM_000541.5(SAG):c.75+7G>T	SAG	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1969860	NM_000541.5(SAG):c.75+12A>C	SAG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1633894	NM_000541.5(SAG):c.75+16G>C	SAG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1537490	NM_000541.5(SAG):c.75+16G>A	SAG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1604458	NM_000541.5(SAG):c.75+19A>G	SAG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3235811	NM_000541.5(SAG):c.76-727A>C	SAG	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1260937	NM_000541.5(SAG):c.76-249T>C	SAG	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1249469	NM_000541.5(SAG):c.76-84C>T	SAG	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1273023	NM_000541.5(SAG):c.76-78G>C	SAG	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1222133	NM_000541.5(SAG):c.76-40C>T	SAG	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2782356	NM_000541.5(SAG):c.76-8T>G	SAG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1067757	NM_000541.5(SAG):c.76-2A>C	SAG	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2700213	NM_000541.5(SAG):c.76-1G>A	SAG	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2046485	NM_000541.5(SAG):c.88C>T (p.Leu30=)	SAG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 970702	NM_000541.5(SAG):c.88C>G (p.Leu30Val)	SAG (L30V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2713285	NM_000541.5(SAG):c.92G>A (p.Gly31Glu)	SAG (G31E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 811618	NM_000541.5(SAG):c.93G>A (p.Gly31=)	SAG	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 1007603	NM_000541.5(SAG):c.99A>C (p.Arg33Ser)	SAG (R33S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 834259	NM_000541.5(SAG):c.100G>T (p.Asp34Tyr)	SAG (D34Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 196283	NM_000541.5(SAG):c.102C>G (p.Asp34Glu)	SAG (D34E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1371961	NM_000541.5(SAG):c.107T>C (p.Ile36Thr)	SAG (I36T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1468148	NM_000541.5(SAG):c.111C>A (p.Asp37Glu)	SAG (D37E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 861001	NM_000541.5(SAG):c.114T>A (p.His38Gln)	SAG (H38Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2122500	NM_000541.5(SAG):c.135G>A (p.Val45=)	SAG	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 444552	NM_000541.5(SAG):c.136+2T>G	SAG	Single nucleotide variant (splice donor variant)	Retinitis pigmentosa +1 more	GPathogenic/Likely pathogenic
Select item 734531	NM_000541.5(SAG):c.136+4A>G	SAG	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1145974	NM_000541.5(SAG):c.136+7T>C	SAG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1585689	NM_000541.5(SAG):c.136+8G>C	SAG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1258563	NM_000541.5(SAG):c.137-284G>C	SAG	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1224727	NM_000541.5(SAG):c.137-279G>A	SAG	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1628845	NM_000541.5(SAG):c.137-19T>C	SAG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2020980	NM_000541.5(SAG):c.137-16C>T	SAG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1125342	NM_000541.5(SAG):c.144C>T (p.Val48=)	SAG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2196482	NM_000541.5(SAG):c.145G>T (p.Val49Leu)	SAG (V49L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 850148	NM_000541.5(SAG):c.145G>A (p.Val49Met)	SAG (V49M)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1007119	NM_000541.5(SAG):c.150G>T (p.Leu50Phe)	SAG (L50F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 837117	NM_000541.5(SAG):c.154G>C (p.Asp52His)	SAG (D52H)	Single nucleotide variant (missense variant)	Retinitis pigmentosa +2 more	GUncertain significance
Select item 1009884	NM_000541.5(SAG):c.161A>C (p.Asp54Ala)	SAG (D54A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1955111	NM_000541.5(SAG):c.163C>A (p.Leu55Ile)	SAG (L55I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2803307	NM_000541.5(SAG):c.169A>C (p.Lys57Gln)	SAG (K57Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1053908	NM_000541.5(SAG):c.171G>A (p.Lys57=)	SAG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2115884	NM_000541.5(SAG):c.172G>C (p.Gly58Arg)	SAG (G58R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1449236	NM_000541.5(SAG):c.178_181del (p.Lys60fs)	SAG (K60fs)	Microsatellite (frameshift variant)	not provided	GPathogenic
Select item 1038989	NM_000541.5(SAG):c.180A>G (p.Lys60=)	SAG	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1914394	NM_000541.5(SAG):c.181+1G>A	SAG	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 1349283	NM_000541.5(SAG):c.181+6A>G	SAG	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1920170	NM_000541.5(SAG):c.181+11G>T	SAG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1656582	NM_000541.5(SAG):c.181+13C>G	SAG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1667849	NM_000541.5(SAG):c.181+16T>C	SAG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1235669	NM_000541.5(SAG):c.181+82A>G	SAG	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1282041	NM_000541.5(SAG):c.181+252C>T	SAG	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1251218	NM_000541.5(SAG):c.181+258C>T	SAG	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1275678	NM_000541.5(SAG):c.181+270C>G	SAG	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1270098	NM_000541.5(SAG):c.181+272C>T	SAG	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1920225	NM_000541.5(SAG):c.182-13A>T	SAG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1168682	NM_000541.5(SAG):c.182-13A>G	SAG	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 851115	NM_000541.5(SAG):c.182-2A>G	SAG	Single nucleotide variant (splice acceptor variant)	Retinal dystrophy +1 more	GLikely pathogenic
Select item 3067979	NM_000541.5(SAG):c.182-1G>A	SAG	Single nucleotide variant (splice acceptor variant)	Oguchi disease-1	GLikely pathogenic
Select item 1390712	NM_000541.5(SAG):c.185A>G (p.Tyr62Cys)	SAG (Y62C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1355191	NM_000541.5(SAG):c.188T>C (p.Val63Ala)	SAG (V63A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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