FRY[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146305	GRCh38/hg38 13q11-34(chr13:18445862-114327173)x1	ATP8A2, ATXN8OS +2049 more	Copy number loss	See cases	GPathogenic
Select item 151282	GRCh38/hg38 13q11-34(chr13:18456040-114340285)x3	LOC130009892, LOC130009893 +2050 more	Copy number gain	See cases	GPathogenic
Select item 59851	GRCh38/hg38 13q11-34(chr13:18565048-114327173)x3	LOC130009819, LOC130009820 +2048 more	Copy number gain	See cases	GPathogenic
Select item 59853	GRCh38/hg38 13q11-13.3(chr13:18676442-37656039)x3	LOC130009419, LOC130009420 +567 more	Copy number gain	See cases	GPathogenic
Select item 59855	GRCh38/hg38 13q11-34(chr13:18850545-114327173)x3	ABCC4, ABHD13 +2045 more	Copy number gain	See cases	GPathogenic
Select item 155395	GRCh38/hg38 13q11-34(chr13:18862146-114342258)x3	ABCC4, ABHD13 +2046 more	Copy number gain	See cases	GPathogenic
Select item 153502	GRCh38/hg38 13q11-13.2(chr13:18862146-33577351)x3	LOC126861730, LOC126861731 +489 more	Copy number gain	See cases	GPathogenic
Select item 59858	GRCh38/hg38 13q12.11-34(chr13:18946182-114304628)x3	LOC130009309, LOC130009310 +2041 more	Copy number gain	See cases	GPathogenic
Select item 154857	GRCh38/hg38 13q12.11-34(chr13:19671934-114340331)x3	LOC130009607, LOC130009608 +2029 more	Copy number gain	See cases	GPathogenic
Select item 148827	GRCh38/hg38 13q12.11-14.11(chr13:19671934-40914767)x3	LOC132090185, LOC132090186 +621 more	Copy number gain	See cases	GPathogenic
Select item 150189	GRCh38/hg38 13q12.11-34(chr13:19833130-114327106)x3	ABCC4, ABHD13 +2025 more	Copy number gain	See cases	GPathogenic
Select item 144647	GRCh38/hg38 13q12.11-34(chr13:19833130-114298614)x3	LOC130009383, LOC130009384 +2022 more	Copy number gain	See cases	GPathogenic
Select item 160881	GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3	LOC126861859, LOC126861860 +2025 more	Copy number gain	See cases	GPathogenic
Select item 59863	GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3	LOC112163664, LOC112163665 +2025 more	Copy number gain	See cases	GPathogenic
Select item 148858	GRCh38/hg38 13q12.3-13.3(chr13:29073320-36556014)x1	ALOX5AP, B3GLCT +203 more	Copy number loss	See cases	GPathogenic
Select item 154802	GRCh38/hg38 13q12.3-13.3(chr13:29321454-36995348)x3	ALG5, ALOX5AP +211 more	Copy number gain	See cases	GPathogenic
Select item 57637	GRCh38/hg38 13q12.3-13.1(chr13:29654134-32858245)x1	LINC00426, LINC00427 +118 more	Copy number loss	See cases	GPathogenic
Select item 150360	GRCh38/hg38 13q12.3-13.3(chr13:30313809-39267681)x1	ALG5, ALOX5AP +214 more	Copy number loss	See cases	GPathogenic
Select item 59868	GRCh38/hg38 13q12.3-31.1(chr13:30318913-83610426)x3	LOC130009567, LOC130009568 +1005 more	Copy number gain	See cases	GPathogenic
Select item 57638	GRCh38/hg38 13q12.3-21.33(chr13:30697728-69471973)x1	LOC130009620, LOC130009621 +781 more	Copy number loss	See cases	GPathogenic
Select item 149761	GRCh38/hg38 13q12.3-14.2(chr13:31018160-48491204)x1	AKAP11, ALG5 +485 more	Copy number loss	See cases	GPathogenic
Select item 57639	GRCh38/hg38 13q12.3-13.2(chr13:31164047-34428736)x1	B3GLCT, BRCA2 +79 more	Copy number loss	See cases	GPathogenic
Select item 161028	GRCh38/hg38 13q12.3-31.3(chr13:31363472-90575292)x3	ACOD1, AKAP11 +992 more	Copy number gain	See cases	GPathogenic
Select item 33174	GRCh38/hg38 13q12.3-31.3(chr13:31363472-90575292)x3	ACOD1, AKAP11 +992 more	Copy number gain	See cases	GPathogenic
Select item 146536	GRCh38/hg38 13q12.3-21.32(chr13:31553608-65470367)x3	LOC130009600, LOC130009601 +735 more	Copy number gain	See cases	GPathogenic
Select item 720490	NM_023037.3(FRY):c.78C>T (p.Pro26=)	FRY	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 738354	NM_023037.3(FRY):c.79G>A (p.Val27Ile)	FRY (V27I)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2488518	NM_023037.3(FRY):c.104C>T (p.Pro35Leu)	FRY (P35L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 734270	NM_023037.3(FRY):c.105G>A (p.Pro35=)	FRY	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3097056	NM_023037.3(FRY):c.164A>G (p.Asn55Ser)	FRY (N55S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2332338	NM_023037.3(FRY):c.166G>T (p.Val56Leu)	FRY (V56L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290633	NM_023037.3(FRY):c.245T>C (p.Ile82Thr)	FRY (I82T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2643721	NM_023037.3(FRY):c.282G>A (p.Leu94=)	FRY	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3097062	NM_023037.3(FRY):c.284C>T (p.Thr95Ile)	FRY (T95I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097063	NM_023037.3(FRY):c.377G>A (p.Arg126His)	FRY (R126H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559077	NM_023037.3(FRY):c.565C>T (p.His189Tyr)	FRY (H189Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296576	NM_023037.3(FRY):c.607G>A (p.Ala203Thr)	FRY (A203T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097069	NM_023037.3(FRY):c.650A>G (p.Asn217Ser)	FRY (N217S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097073	NM_023037.3(FRY):c.724G>C (p.Ala242Pro)	FRY (A242P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 784676	NM_023037.3(FRY):c.993A>G (p.Glu331=)	FRY	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 747924	NM_023037.3(FRY):c.1233T>C (p.Leu411=)	FRY	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3279971	NM_023037.3(FRY):c.1427T>G (p.Phe476Cys)	FRY (F476C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 719505	NM_023037.3(FRY):c.1557G>A (p.Pro519=)	FRY	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3279958	NM_023037.3(FRY):c.1769C>T (p.Pro590Leu)	FRY (P590L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 708573	NM_023037.3(FRY):c.1794A>G (p.Arg598=)	FRY	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2291059	NM_023037.3(FRY):c.1859T>C (p.Met620Thr)	FRY (M620T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097057	NM_023037.3(FRY):c.1903C>A (p.His635Asn)	FRY (H635N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 753644	NM_023037.3(FRY):c.1911T>C (p.Asp637=)	FRY	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 708574	NM_023037.3(FRY):c.1921C>A (p.Arg641=)	FRY	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3097058	NM_023037.3(FRY):c.1967C>T (p.Ser656Leu)	FRY (S656L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 732994	NM_023037.3(FRY):c.2040A>T (p.Thr680=)	FRY	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 785443	NM_023037.3(FRY):c.2140A>G (p.Arg714Gly)	FRY (R714G)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 776792	NM_023037.3(FRY):c.2217C>T (p.His739=)	FRY	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 776793	NM_023037.3(FRY):c.2241T>C (p.Val747=)	FRY	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2643722	NM_023037.3(FRY):c.2349G>A (p.Pro783=)	FRY	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2302084	NM_023037.3(FRY):c.2383A>G (p.Ile795Val)	FRY (I795V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391602	NM_023037.3(FRY):c.2410G>A (p.Val804Ile)	FRY (V804I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 714342	NM_023037.3(FRY):c.2454G>T (p.Leu818=)	FRY	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3097059	NM_023037.3(FRY):c.2639C>T (p.Ala880Val)	FRY (A880V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097060	NM_023037.3(FRY):c.2708G>T (p.Ser903Ile)	FRY (S903I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3025940	NM_023037.3(FRY):c.2772A>C (p.Gly924=)	FRY	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 727644	NM_023037.3(FRY):c.2790T>C (p.Ile930=)	FRY	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3279959	NM_023037.3(FRY):c.2834C>T (p.Ala945Val)	FRY (A945V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097061	NM_023037.3(FRY):c.2849G>A (p.Gly950Asp)	FRY (G950D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3355927	NM_023037.3(FRY):c.2867A>C (p.Asn956Thr)	FRY (N956T)	Single nucleotide variant (missense variant)	FRY-related condition	GUncertain significance
Select item 2672537	NM_023037.3(FRY):c.3022T>C (p.Leu1008=)	FRY	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 718723	NM_023037.3(FRY):c.3057C>T (p.Asn1019=)	FRY	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3347605	NM_023037.3(FRY):c.3116T>A (p.Leu1039His)	FRY (L1039H)	Single nucleotide variant (missense variant)	FRY-related condition	GUncertain significance
Select item 1326017	NM_023037.3(FRY):c.3146+6A>G	FRY	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2286105	NM_023037.3(FRY):c.3151A>C (p.Asn1051His)	FRY (N1051H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280924	NM_023037.3(FRY):c.3220A>G (p.Met1074Val)	FRY (M1074V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 746619	NM_023037.3(FRY):c.3226C>T (p.Leu1076=)	FRY	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2306498	NM_023037.3(FRY):c.3274G>A (p.Ala1092Thr)	FRY (A1092T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 742042	NM_023037.3(FRY):c.3327C>T (p.His1109=)	FRY	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2266059	NM_023037.3(FRY):c.3367C>A (p.Leu1123Ile)	FRY (L1123I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 730907	NM_023037.3(FRY):c.3481-8A>G	FRY	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2479580	NM_023037.3(FRY):c.3550T>C (p.Tyr1184His)	FRY (Y1184H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2643723	NM_023037.3(FRY):c.3660T>C (p.Phe1220=)	FRY	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 781102	NM_023037.3(FRY):c.3735G>A (p.Val1245=)	FRY	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 712595	NM_023037.3(FRY):c.3740G>A (p.Gly1247Glu)	FRY (G1247E)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 3279973	NM_023037.3(FRY):c.3886G>T (p.Ala1296Ser)	FRY (A1296S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206383	NM_023037.3(FRY):c.3925G>C (p.Gly1309Arg)	FRY (G1309R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275830	NM_023037.3(FRY):c.3929C>T (p.Pro1310Leu)	FRY (P1310L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 771189	NM_023037.3(FRY):c.3930G>A (p.Pro1310=)	FRY	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 770420	NM_023037.3(FRY):c.3958G>A (p.Ala1320Thr)	FRY (A1320T)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 718527	NM_023037.3(FRY):c.4026C>T (p.Ser1342=)	FRY	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2643724	NM_023037.3(FRY):c.4056G>A (p.Gly1352=)	FRY	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2217873	NM_023037.3(FRY):c.4068G>T (p.Met1356Ile)	FRY (M1356I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 785896	NM_023037.3(FRY):c.4077C>T (p.Tyr1359=)	FRY	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 708575	NM_023037.3(FRY):c.4197C>T (p.His1399=)	FRY	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3097064	NM_023037.3(FRY):c.4198G>A (p.Gly1400Arg)	FRY (G1400R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219103	NM_023037.3(FRY):c.4346G>A (p.Ser1449Asn)	FRY (S1449N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616362	NM_023037.3(FRY):c.4510G>A (p.Val1504Met)	FRY, LOC126861730 (V1504M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 714096	NM_023037.3(FRY):c.4521C>T (p.Ile1507=)	FRY, LOC126861730	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 758265	NM_023037.3(FRY):c.4522G>A (p.Val1508Ile)	FRY, LOC126861730 (V1508I)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 768609	NM_023037.3(FRY):c.4551C>T (p.Tyr1517=)	FRY, LOC126861730	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2475353	NM_023037.3(FRY):c.4568G>A (p.Ser1523Asn)	FRY, LOC126861730 (S1523N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 748338	NM_023037.3(FRY):c.4596C>A (p.Thr1532=)	FRY	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2277703	NM_023037.3(FRY):c.4684T>C (p.Phe1562Leu)	FRY (F1562L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 743529	NM_023037.3(FRY):c.4836G>A (p.Pro1612=)	FRY	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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