ClinVar for Gene (Select 1260) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3366901	NC_000023.10:g.(?_54610638)_(154689386_?)dup	ABCB7, ABCD1 +526 more	Duplication	Hereditary factor VIII deficiency disease	GUncertain significance
Select item 3268107	NM_005140.3(CNGA2):c.1039G>T (p.Asp347Tyr)	CNGA2 (D347Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3268106	NM_005140.3(CNGA2):c.878A>C (p.Tyr293Ser)	CNGA2 (Y293S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3268105	NM_005140.3(CNGA2):c.124G>C (p.Ala42Pro)	CNGA2 (A42P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3268104	NM_005140.3(CNGA2):c.14C>A (p.Thr5Asn)	CNGA2 (T5N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3268103	NM_005140.3(CNGA2):c.73A>G (p.Lys25Glu)	CNGA2 (K25E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3268102	NM_005140.3(CNGA2):c.371C>T (p.Thr124Ile)	CNGA2 (T124I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3268101	NM_005140.3(CNGA2):c.1167C>G (p.Ile389Met)	CNGA2 (I389M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3268099	NM_005140.3(CNGA2):c.1180C>T (p.His394Tyr)	CNGA2 (H394Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3268098	NM_005140.3(CNGA2):c.254G>A (p.Arg85Gln)	CNGA2 (R85Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3268097	NM_005140.3(CNGA2):c.583C>T (p.Arg195Cys)	CNGA2 (R195C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3242589	GRCh38/hg38 Xp22.33-q28(chrX:2757837-156030895)x2	LOC130068417, LOC130068418 +2599 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 3148884	GRCh37/hg19 Xq25-28(chrX:125253445-155233098)x1	PRR32, ABCD1 +215 more	Copy number loss	See cases	GPathogenic
Select item 3148864	GRCh37/hg19 Xq25-28(chrX:121656905-155233098)x1	SLITRK2, SLITRK4 +221 more	Copy number loss	not provided	GPathogenic
Select item 3146444	NM_005140.3(CNGA2):c.230G>C (p.Arg77Thr)	CNGA2 (R77T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146443	NM_005140.3(CNGA2):c.1935A>C (p.Glu645Asp)	CNGA2 (E645D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146442	NM_005140.3(CNGA2):c.1917G>C (p.Lys639Asn)	CNGA2 (K639N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146441	NM_005140.3(CNGA2):c.1786G>A (p.Asp596Asn)	CNGA2 (D596N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146440	NM_005140.3(CNGA2):c.1448G>A (p.Arg483His)	CNGA2 (R483H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146439	NM_005140.3(CNGA2):c.1411C>T (p.Arg471Cys)	CNGA2 (R471C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146438	NM_005140.3(CNGA2):c.1357C>T (p.Arg453Cys)	CNGA2 (R453C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146437	NM_005140.3(CNGA2):c.1219G>A (p.Ala407Thr)	CNGA2 (A407T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146436	NM_005140.3(CNGA2):c.1158G>T (p.Gln386His)	CNGA2 (Q386H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146435	NM_005140.3(CNGA2):c.1102G>A (p.Val368Met)	CNGA2 (V368M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062491	GRCh37/hg19 Xq24-28(chrX:119395676-154930047)	TAFAZZIN, TENM1 +241 more	Copy number loss	not specified	GPathogenic
Select item 3062473	GRCh37/hg19 Xq22.2-28(chrX:103405294-155233731)	ABCD1, ACSL4 +321 more	Copy number loss	not specified	GPathogenic
Select item 3024654	GRCh37/hg19 Xq12-28(chrX:67292994-155240074)x3	CT47A5, NXF3 +488 more	Copy number gain	not provided	GPathogenic
Select item 2685770	GRCh37/hg19 Xq28(chrX:150912962-151423949)x2	CNGA2, GABRA3 +4 more	Copy number gain	not provided	GUncertain significance
Select item 2685769	GRCh37/hg19 Xq28(chrX:150542033-151131340)x2	CNGA2, FATE1 +6 more	Copy number gain	not provided	GUncertain significance
Select item 2685724	GRCh37/hg19 Xq28(chrX:148598351-154943978)x1	ABCD1, ARHGAP4 +110 more	Copy number loss	not provided	GPathogenic
Select item 2685718	GRCh37/hg19 Xq24-28(chrX:119071609-155233731)x1	ABCD1, ACTRT1 +246 more	Copy number loss	not provided	GPathogenic
Select item 2685717	GRCh37/hg19 Xq24-28(chrX:118576752-155233731)x1	ABCD1, ACTRT1 +258 more	Copy number loss	not provided	GPathogenic
Select item 2661654	NM_005140.3(CNGA2):c.1764A>G (p.Glu588=)	CNGA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2661653	NM_005140.3(CNGA2):c.796C>T (p.Arg266Cys)	CNGA2 (R266C)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2661652	NM_005140.3(CNGA2):c.748C>T (p.Leu250=)	CNGA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2661651	NM_005140.3(CNGA2):c.584G>A (p.Arg195His)	CNGA2 (R195H)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2661650	NM_005140.3(CNGA2):c.129C>T (p.Asp43=)	CNGA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2616846	NM_005140.3(CNGA2):c.448C>A (p.Pro150Thr)	CNGA2 (P150T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590515	NM_005140.3(CNGA2):c.106A>G (p.Ser36Gly)	CNGA2 (S36G)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2551616	NM_005140.3(CNGA2):c.913G>A (p.Asp305Asn)	CNGA2 (D305N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541192	NM_005140.3(CNGA2):c.1447C>T (p.Arg483Cys)	CNGA2 (R483C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527721	NM_005140.3(CNGA2):c.1939G>A (p.Asp647Asn)	CNGA2 (D647N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526810	NM_005140.3(CNGA2):c.1604G>A (p.Arg535Gln)	CNGA2 (R535Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525103	NM_005140.3(CNGA2):c.331G>C (p.Gly111Arg)	CNGA2 (G111R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517859	NM_005140.3(CNGA2):c.1049A>T (p.Tyr350Phe)	CNGA2 (Y350F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2506546	GRCh37/hg19 Xp22.33-q28(chrX:200855-155240074)	ABCB7, ABCD1 +818 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 2497748	GRCh37/hg19 Xq27.1-28(chrX:139586015-154774957)	ABCD1, AFF2 +140 more	Copy number gain	Syndromic X-linked intellectual disability Lubs type	GPathogenic
Select item 2486668	NM_005140.3(CNGA2):c.703T>C (p.Tyr235His)	CNGA2 (Y235H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485904	NM_005140.3(CNGA2):c.730G>A (p.Glu244Lys)	CNGA2 (E244K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483021	NM_005140.3(CNGA2):c.1789G>A (p.Val597Met)	CNGA2 (V597M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470178	NM_005140.3(CNGA2):c.1144C>T (p.Arg382Trp)	CNGA2 (R382W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382295	NM_005140.3(CNGA2):c.358G>A (p.Glu120Lys)	CNGA2 (E120K)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2343443	NM_005140.3(CNGA2):c.1841G>A (p.Arg614His)	CNGA2 (R614H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342895	NM_005140.3(CNGA2):c.1190A>T (p.Gln397Leu)	CNGA2 (Q397L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332971	NM_005140.3(CNGA2):c.283C>G (p.Leu95Val)	CNGA2 (L95V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276673	NM_005140.3(CNGA2):c.1319T>C (p.Ile440Thr)	CNGA2 (I440T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276503	NM_005140.3(CNGA2):c.323C>A (p.Thr108Lys)	CNGA2 (T108K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268106	NM_005140.3(CNGA2):c.743A>G (p.Asn248Ser)	CNGA2 (N248S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266722	NM_005140.3(CNGA2):c.1596G>C (p.Met532Ile)	CNGA2 (M532I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260221	NM_005140.3(CNGA2):c.1804G>A (p.Gly602Arg)	CNGA2 (G602R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242877	NM_005140.3(CNGA2):c.1228A>G (p.Ile410Val)	CNGA2 (I410V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217513	NM_005140.3(CNGA2):c.1621C>T (p.Arg541Cys)	CNGA2 (R541C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808722	GRCh37/hg19 Xq25-28(chrX:124749464-155233731)x1	ABCD1, ACTRT1 +216 more	Copy number loss	not provided	GPathogenic
Select item 1710916	GRCh37/hg19 Xq27.3-28(chrX:142401540-155233731)x1	ABCD1, BCAP31 +129 more	Copy number loss	See cases	GPathogenic
Select item 1707442	GRCh37/hg19 Xp22.2-q28(chrX:11522765-155233731)x1	ABCB7, ABCD1 +790 more	Copy number loss	See cases	GPathogenic
Select item 1706520	GRCh37/hg19 Xq21.1-28(chrX:77670699-155233731)x1	NXF5, NXT2 +414 more	Copy number loss	See cases	GPathogenic
Select item 1704345	GRCh37/hg19 Xp22.33-q28(chrX:61545-155226048)x2	ABCB7, ABCD1 +818 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 1703584	GRCh37/hg19 Xq11.1-28(chrX:62685885-155233731)	ABCB7, ABCD1 +501 more	Copy number loss	Turner syndrome	GPathogenic
Select item 1703580	GRCh37/hg19 Xp22.33-q28(chrX:1-155270560)	ABCB7, ABCD1 +819 more	Copy number loss	Turner syndrome	GPathogenic
Select item 1703579	GRCh37/hg19 Xp22.33-q28(chrX:1-155270560)	AKAP14, CT47A11 +819 more	Copy number gain	Hypotonia +2 more	GPathogenic
Select item 1342311	Single allele	ABCD1, AFF2 +337 more	Duplication	Syndromic X-linked intellectual disability Lubs type	GPathogenic
Select item 1341233	GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1	RADX, RAI2 +818 more	Copy number loss	not provided	GPathogenic
Select item 1341223	GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3	GPM6B, KLHL15 +818 more	Copy number gain	not provided	GPathogenic
Select item 1180551	GRCh37/hg19 Xp22.33-q28(chrX:60000-155234966)x1	KLHL34, KLHL4 +818 more	Copy number loss	not provided	GPathogenic
Select item 992648	GRCh37/hg19 Xp11.21-q28(chrX:56469080-155233731)x3	CPXCR1, GABRE +509 more	Copy number gain	not provided	GPathogenic
Select item 983156	GRCh37/hg19 Xp11.21-q28(chrX:55507789-155198481)x3	ARMCX4, CXorf51B +513 more	Copy number gain	See cases	GPathogenic
Select item 979836	GRCh37/hg19 Xq21.33-28(chrX:94264404-155233731)x1	ABCD1, ACSL4 +387 more	Copy number loss	not provided	GPathogenic
Select item 916135	GRCh37/hg19 Xq25-28(chrX:122132166-155097214)	APLN, ABCD1 +221 more	Copy number loss	Intellectual disability	GLikely pathogenic
Select item 816368	GRCh37/hg19 Xq21.1-28(chrX:84387417-155233731)x1	ABCD1, ACSL4 +398 more	Copy number loss	not provided	GPathogenic
Select item 816364	GRCh37/hg19 Xq21.1-28(chrX:78444738-155233731)x1	ABCD1, ACSL4 +410 more	Copy number loss	not provided	GPathogenic
Select item 796643	NM_005140.3(CNGA2):c.966G>A (p.Arg322=)	CNGA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 790249	NM_005140.3(CNGA2):c.1196G>A (p.Arg399Gln)	CNGA2 (R399Q)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 784435	NM_005140.3(CNGA2):c.44A>C (p.Asn15Thr)	CNGA2 (N15T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 783082	NM_005140.3(CNGA2):c.1527G>A (p.Gln509=)	CNGA2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 781645	NM_005140.3(CNGA2):c.1855C>T (p.Leu619=)	CNGA2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 781560	NM_005140.3(CNGA2):c.111-3C>T	CNGA2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 780738	NM_005140.3(CNGA2):c.402C>T (p.Asp134=)	CNGA2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 780737	NM_005140.3(CNGA2):c.352G>C (p.Asp118His)	CNGA2 (D118H)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 759603	NM_005140.3(CNGA2):c.635G>A (p.Arg212Gln)	CNGA2 (R212Q)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 756324	NM_005140.3(CNGA2):c.563C>T (p.Ala188Val)	CNGA2 (A188V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 741426	NM_005140.3(CNGA2):c.953G>A (p.Gly318Asp)	CNGA2 (G318D)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 730655	NM_005140.3(CNGA2):c.1440C>T (p.Tyr480=)	CNGA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 728382	NM_005140.3(CNGA2):c.338G>T (p.Gly113Val)	CNGA2 (G113V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 688406	GRCh37/hg19 Xq25-28(chrX:122924044-155233731)x1	ABCD1, ACTRT1 +220 more	Copy number loss	not provided	GPathogenic
Select item 688137	GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1	ARHGAP36, ARHGAP4 +818 more	Copy number loss	not provided	GPathogenic
Select item 687519	GRCh37/hg19 Xp11.21-q28(chrX:54941868-155233731)x1	AWAT1, AWAT2 +524 more	Copy number loss	not provided	GUncertain significance
Select item 687132	GRCh37/hg19 Xq24-28(chrX:118150047-155233731)x1	ABCD1, ACTRT1 +262 more	Copy number loss	not provided	GPathogenic
Select item 686250	GRCh37/hg19 Xq22.3-28(chrX:104098124-155233731)x1	ABCD1, ACSL4 +320 more	Copy number loss	not provided	GPathogenic
Select item 685566	GRCh37/hg19 Xp11.1-q28(chrX:58455352-155233731)x1	AWAT2, BCAP31 +502 more	Copy number loss	not provided	GPathogenic
Select item 685331	GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4	BEX1, BEX2 +818 more	Copy number gain	not provided	GPathogenic

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