4976[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	LOC115995524, LOC115995525 +2647 more	Copy number gain	See cases	GPathogenic
Select item 57983	GRCh38/hg38 3q24-29(chr3:147521892-198096565)x3	LOC123453201, LOC123453202 +1450 more	Copy number gain	See cases	GPathogenic
Select item 150609	GRCh38/hg38 3q25.1-29(chr3:152100512-198118383)x3	LOC129938169, LOC129938170 +1318 more	Copy number gain	See cases	GPathogenic
Select item 154213	GRCh38/hg38 3q25.31-29(chr3:156118441-198125115)x3	LOC108281160, LOC108281177 +1247 more	Copy number gain	See cases	GPathogenic
Select item 152257	GRCh38/hg38 3q25.31-29(chr3:156321878-198113452)x3	ABCC5, ABCC5-AS1 +1245 more	Copy number gain	See cases	GPathogenic
Select item 57984	GRCh38/hg38 3q25.31-29(chr3:157293378-198134727)x3	LOC132088897, LOC132088898 +1201 more	Copy number gain	See cases	GPathogenic
Select item 155627	GRCh38/hg38 3q26.1-29(chr3:166137209-198125115)x3	LOC129938260, LOC129938261 +1064 more	Copy number gain	See cases	GPathogenic
Select item 148012	GRCh38/hg38 3q26.2-29(chr3:168167568-198110178)x3	LOC129938077, LOC129938078 +1041 more	Copy number gain	See cases	GPathogenic
Select item 149685	GRCh38/hg38 3q26.32-29(chr3:176168525-198118383)x3	ZMAT3, ZNF639 +867 more	Copy number gain	See cases	GPathogenic
Select item 148947	GRCh38/hg38 3q26.32-29(chr3:176439911-198118383)x3	LOC129938282, LOC129938283 +866 more	Copy number gain	See cases	GPathogenic
Select item 57868	GRCh38/hg38 3q27.2-29(chr3:185485849-198110178)x1	MIR944, MUC20 +557 more	Copy number loss	See cases	GPathogenic
Select item 148900	GRCh38/hg38 3q27.3-29(chr3:186765148-194409416)x1	ADIPOQ, ADIPOQ-AS1 +237 more	Copy number loss	See cases	GPathogenic
Select item 545290	NC_000003.12:g.(?_187222939)_(194312782_?)del	ATP13A4, ATP13A4-AS1 +180 more	Deletion	Schizophrenia	GLikely pathogenic
Select item 57870	GRCh38/hg38 3q27.3-29(chr3:187446231-195029133)x1	ATP13A3, ATP13A3-DT +226 more	Copy number loss	See cases	GPathogenic
Select item 57997	GRCh38/hg38 3q28-29(chr3:189265371-198110178)x3	ACAP2, APOD +411 more	Copy number gain	See cases	GPathogenic
Select item 57998	GRCh38/hg38 3q28-29(chr3:190667663-198110178)x3	LOC126806930, LOC126806931 +375 more	Copy number gain	See cases	GPathogenic
Select item 148761	GRCh38/hg38 3q29(chr3:192752937-198118383)x3	ACAP2, APOD +337 more	Copy number gain	See cases	GPathogenic
Select item 673600	NM_015560.2(OPA1):c.-580A>C	ATP13A4, OPA1	Single nucleotide variant	not provided	GLikely benign
Select item 1219273	NC_000003.12:g.193593101C>T	ATP13A4, OPA1	Single nucleotide variant	not provided	GLikely benign
Select item 903246	NM_015560.2(OPA1):c.-182C>A	OPA1	Single nucleotide variant	Autosomal dominant optic atrophy classic form	GUncertain significance
Select item 903247	NM_015560.2(OPA1):c.-172T>A	OPA1	Single nucleotide variant	Autosomal dominant optic atrophy classic form	GBenign
Select item 903248	NM_130837.3(OPA1):c.-144T>C	OPA1	Single nucleotide variant (5 prime UTR variant)	Autosomal dominant optic atrophy classic form	GUncertain significance
Select item 344477	NM_130837.3(OPA1):c.-102G>A	OPA1	Single nucleotide variant (5 prime UTR variant)	Autosomal dominant optic atrophy classic form	GUncertain significance
Select item 382595	NM_130837.3(OPA1):c.-11C>G	OPA1	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 378310	NM_130837.3(OPA1):c.-10C>T	OPA1	Single nucleotide variant (5 prime UTR variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 344478	NM_130837.3(OPA1):c.-8C>T	OPA1	Single nucleotide variant (5 prime UTR variant)	Autosomal dominant optic atrophy classic form	GUncertain significance
Select item 903249	NM_130837.3(OPA1):c.-3G>A	OPA1	Single nucleotide variant (5 prime UTR variant)	Autosomal dominant optic atrophy classic form	GUncertain significance
Select item 2504752	NM_130837.3(OPA1):c.1A>T (p.Met1Leu)	OPA1 (M1L)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely pathogenic
Select item 1184499	NM_130837.3(OPA1):c.3G>A (p.Met1Ile)	OPA1 (M1I)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GPathogenic
Select item 2103621	NM_130837.3(OPA1):c.5G>T (p.Trp2Leu)	OPA1 (W2L)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2684284	NM_130837.3(OPA1):c.6G>A (p.Trp2Ter)	OPA1 (W2*)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely pathogenic
Select item 2020641	NM_130837.3(OPA1):c.7C>T (p.Arg3Ter)	OPA1 (R3*)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GPathogenic
Select item 3338716	NM_130837.3(OPA1):c.14G>A (p.Arg5His)	OPA1 (R5H)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2130139	NM_130837.3(OPA1):c.16C>G (p.Arg6Gly)	OPA1 (R6G)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1997387	NM_130837.3(OPA1):c.21C>T (p.Ala7=)	OPA1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 193386	NM_130837.3(OPA1):c.22G>T (p.Ala8Ser)	OPA1 (A8S)	Single nucleotide variant (5 prime UTR variant +1 more)	Autosomal dominant optic atrophy classic form +1 more	GUncertain significance
Select item 2978984	NM_130837.3(OPA1):c.30C>G (p.Ala10=)	OPA1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 3009268	NM_130837.3(OPA1):c.32+14C>G	OPA1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 509668	NM_130837.3(OPA1):c.32+14C>T	OPA1	Single nucleotide variant (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 2230739	NM_130837.3(OPA1):c.32+24C>G	OPA1	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 1281354	NM_130837.3(OPA1):c.32+286C>T	OPA1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1275115	NM_130837.3(OPA1):c.33-91TG[4]	OPA1	Microsatellite (intron variant)	not provided	GBenign
Select item 2716617	NM_130837.3(OPA1):c.33-8T>G	OPA1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 195308	NM_130837.3(OPA1):c.33-8T>C	OPA1	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2310697	NM_130837.3(OPA1):c.37G>A (p.Val13Ile)	OPA1 (V13I)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 2840255	NM_130837.3(OPA1):c.38T>G (p.Val13Gly)	OPA1 (V13G)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 95726	NM_130837.3(OPA1):c.43C>A (p.Gln15Lys)	OPA1 (Q15K)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +5 more	GBenign
Select item 452859	NM_130837.3(OPA1):c.49T>A (p.Leu17Ile)	OPA1 (L17I)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1684975	NM_130837.3(OPA1):c.52G>C (p.Val18Leu)	OPA1 (V18L)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2176959	NM_130837.3(OPA1):c.58C>T (p.His20Tyr)	OPA1 (H20Y)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1709891	NM_130837.3(OPA1):c.70dup (p.Ile24fs)	OPA1 (I24fs)	Duplication (5 prime UTR variant +1 more)	Autosomal dominant optic atrophy classic form	GPathogenic
Select item 214887	NM_130837.3(OPA1):c.70A>G (p.Ile24Val)	OPA1 (I24V)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1417132	NM_130837.3(OPA1):c.77G>A (p.Gly26Glu)	OPA1 (G26E)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 496871	NM_130837.3(OPA1):c.85C>G (p.Pro29Ala)	OPA1 (P29A)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 2892511	NM_130837.3(OPA1):c.86C>A (p.Pro29Gln)	OPA1 (P29Q)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 872665	NM_130837.3(OPA1):c.87A>G (p.Pro29=)	OPA1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 214888	NM_130837.3(OPA1):c.88C>T (p.Leu30=)	OPA1	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 1318883	NM_130837.3(OPA1):c.89T>C (p.Leu30Pro)	OPA1 (L30P)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 995145	NM_130837.3(OPA1):c.93_96dup (p.Leu33fs)	OPA1 (L33fs)	Duplication (5 prime UTR variant +1 more)	not provided	GPathogenic
Select item 2833351	NM_130837.3(OPA1):c.94A>C (p.Lys32Gln)	OPA1 (K32Q)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2881092	NM_130837.3(OPA1):c.99A>G (p.Leu33=)	OPA1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2048454	NM_130837.3(OPA1):c.104T>C (p.Leu35Pro)	OPA1 (L35P)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2582160	NM_130837.3(OPA1):c.106G>C (p.Val36Leu)	OPA1 (V36L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1338854	NM_130837.3(OPA1):c.113_130dup (p.Arg38_Ser43dup)	OPA1	Duplication (5 prime UTR variant +1 more)	Tip-toe gait	GLikely pathogenic
Select item 214916	NM_130837.3(OPA1):c.113_130del (p.Arg38_Ser43del)	OPA1	Deletion (inframe_deletion +1 more)	not provided +12 more	GConflicting classifications of pathogenicity
Select item 2654359	NM_130837.3(OPA1):c.110C>T (p.Ser37Leu)	OPA1 (S37L)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 805095	NM_130837.3(OPA1):c.112C>T (p.Arg38Ter)	OPA1 (R38*)	Single nucleotide variant (5 prime UTR variant +1 more)	Retinal dystrophy +2 more	GPathogenic/Likely pathogenic
Select item 1318718	NM_130837.3(OPA1):c.113G>A (p.Arg38Gln)	OPA1 (R38Q)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1709813	NM_130837.3(OPA1):c.114_115insG (p.Ser39fs)	OPA1 (S39fs)	Insertion (5 prime UTR variant +1 more)	Autosomal dominant optic atrophy classic form	GLikely pathogenic
Select item 1965776	NM_130837.3(OPA1):c.115A>G (p.Ser39Gly)	OPA1 (S39G)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2980557	NM_130837.3(OPA1):c.116G>A (p.Ser39Asn)	OPA1 (S39N)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2975469	NM_130837.3(OPA1):c.118A>G (p.Ile40Val)	OPA1 (I40V)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1000915	NM_130837.3(OPA1):c.124C>T (p.His42Tyr)	OPA1 (H42Y)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1427615	NM_130837.3(OPA1):c.127T>C (p.Ser43Pro)	OPA1 (S43P)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2097522	NM_130837.3(OPA1):c.138T>A (p.Pro46=)	OPA1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2109673	NM_130837.3(OPA1):c.144A>G (p.Leu48=)	OPA1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2990326	NM_130837.3(OPA1):c.150T>G (p.Leu50=)	OPA1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 3018440	NM_130837.3(OPA1):c.152A>G (p.Gln51Arg)	OPA1 (Q51R)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 872666	NM_130837.3(OPA1):c.154C>T (p.Arg52Ter)	OPA1 (R52*)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GPathogenic
Select item 1372745	NM_130837.3(OPA1):c.155G>A (p.Arg52Gln)	OPA1 (R52Q)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1921301	NM_130837.3(OPA1):c.162A>G (p.Gln54=)	OPA1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 997031	NM_130837.3(OPA1):c.164dup (p.Leu55fs)	OPA1 (L55fs)	Duplication (5 prime UTR variant +1 more)	Autosomal dominant optic atrophy classic form	GLikely pathogenic
Select item 2095899	NM_130837.3(OPA1):c.168G>T (p.Arg56Ser)	OPA1 (R56S)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1903811	NM_130837.3(OPA1):c.170C>T (p.Thr57Ile)	OPA1 (T57I)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1993218	NM_130837.3(OPA1):c.178del (p.Gln60fs)	OPA1 (Q60fs)	Deletion (5 prime UTR variant +1 more)	not provided	GPathogenic
Select item 511815	NM_130837.3(OPA1):c.182A>G (p.Gln61Arg)	OPA1 (Q61R)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign/Likely benign
Select item 2812034	NM_130837.3(OPA1):c.183G>A (p.Gln61=)	OPA1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1163831	NM_130837.3(OPA1):c.187T>A (p.Ser63Thr)	OPA1 (S63T)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2800976	NM_130837.3(OPA1):c.191C>T (p.Ser64Phe)	OPA1 (S64F)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1710785	NM_130837.3(OPA1):c.193C>G (p.Leu65Val)	OPA1 (L65V)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2815352	NM_130837.3(OPA1):c.198_201del (p.Asn67fs)	OPA1 (N67fs)	Deletion (5 prime UTR variant +1 more)	not provided	GPathogenic
Select item 214889	NM_130837.3(OPA1):c.205C>G (p.Pro69Ala)	OPA1 (P69A)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1502084	NM_130837.3(OPA1):c.211C>T (p.Arg71Cys)	OPA1 (R71C)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 2547870	NM_130837.3(OPA1):c.212G>C (p.Arg71Pro)	OPA1 (R71P)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 214921	NM_130837.3(OPA1):c.212G>A (p.Arg71His)	OPA1 (R71H)	Single nucleotide variant (5 prime UTR variant +1 more)	Autosomal dominant optic atrophy classic form +1 more	GConflicting classifications of pathogenicity
Select item 1318590	NM_130837.3(OPA1):c.215A>C (p.Lys72Thr)	OPA1 (K72T)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 2635566	NM_130837.3(OPA1):c.219del (p.Lys74fs)	OPA1 (K74fs)	Deletion (5 prime UTR variant +1 more)	OPA1-related disorder	GLikely pathogenic
Select item 1218850	NM_130837.3(OPA1):c.222A>T (p.Lys74Asn)	OPA1 (K74N)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 2038344	NM_130837.3(OPA1):c.231A>G (p.Pro77=)	OPA1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1996922	NM_130837.3(OPA1):c.232del (p.Ile78fs)	OPA1 (I78fs)	Deletion (5 prime UTR variant +1 more)	not provided	GPathogenic

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