341640[geneid] - 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 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 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 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 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 149289	GRCh38/hg38 13q13.1-31.1(chr13:32531486-86757044)x3	LOC130009611, LOC130009612 +938 more	Copy number gain	See cases	GPathogenic
Select item 59888	GRCh38/hg38 13q13.2-34(chr13:33528097-114327173)x3	LOC130009687, LOC130009688 +1557 more	Copy number gain	See cases	GPathogenic
Select item 57640	GRCh38/hg38 13q13.3-14.11(chr13:35232476-41375955)x1	ALG5, CCDC169 +146 more	Copy number loss	See cases	GPathogenic
Select item 144214	GRCh38/hg38 13q13.3-21.31(chr13:36777318-62955876)x1	LINC00400, LINC02333 +604 more	Copy number loss	See cases	GPathogenic
Select item 154055	GRCh38/hg38 13q13.3(chr13:37156369-39010872)x3	FREM2, FREM2-AS1 +24 more	Copy number gain	See cases	GUncertain significance
Select item 57641	GRCh38/hg38 13q13.3(chr13:37210304-39034199)x1	FREM2, FREM2-AS1 +25 more	Copy number loss	See cases	GPathogenic
Select item 152095	GRCh38/hg38 13q13.3-21.32(chr13:37864226-67963788)x1	LOC130009665, LOC130009659 +612 more	Copy number loss	See cases	GPathogenic
Select item 152159	GRCh38/hg38 13q13.3-14.3(chr13:38514177-51425214)x1	LOC126861769, LOC126861770 +437 more	Copy number loss	See cases	GPathogenic
Select item 1287018	NC_000013.11:g.38686756C>T	FREM2	Single nucleotide variant	not provided	GBenign
Select item 1271127	NC_000013.11:g.38686785T>C	FREM2	Single nucleotide variant	not provided	GBenign
Select item 1243197	NC_000013.11:g.38686910C>T	FREM2	Single nucleotide variant	not provided	GBenign
Select item 1231123	NC_000013.11:g.38687014T>G	FREM2	Single nucleotide variant	not provided	GBenign
Select item 311926	NM_207361.5(FREM2):c.-285C>G	FREM2	Single nucleotide variant	Fraser syndrome 1	GUncertain significance
Select item 311927	NM_207361.6(FREM2):c.-260A>G	FREM2	Single nucleotide variant (5 prime UTR variant)	Fraser syndrome 2 +1 more	GBenign
Select item 311928	NM_207361.6(FREM2):c.-251A>G	FREM2	Single nucleotide variant (5 prime UTR variant)	Fraser syndrome 2	GUncertain significance
Select item 311929	NM_207361.6(FREM2):c.-244G>T	FREM2	Single nucleotide variant (5 prime UTR variant)	Fraser syndrome 2	GUncertain significance
Select item 311930	NM_207361.6(FREM2):c.-219G>A	FREM2	Single nucleotide variant (5 prime UTR variant)	Fraser syndrome 2	GUncertain significance
Select item 311931	NM_207361.6(FREM2):c.-193T>C	FREM2	Single nucleotide variant (5 prime UTR variant)	Fraser syndrome 2	GUncertain significance
Select item 311932	NM_207361.6(FREM2):c.-182G>A	FREM2	Single nucleotide variant (5 prime UTR variant)	Fraser syndrome 2	GLikely benign
Select item 884194	NM_207361.6(FREM2):c.-33A>G	FREM2	Single nucleotide variant (5 prime UTR variant)	Fraser syndrome 2	GUncertain significance
Select item 311933	NM_207361.6(FREM2):c.1A>G (p.Met1Val)	FREM2 (M1V)	Single nucleotide variant (missense variant +1 more)	Fraser syndrome 2	GUncertain significance
Select item 2909248	NM_207361.6(FREM2):c.12C>T (p.Ala4=)	FREM2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2868784	NM_207361.6(FREM2):c.12C>A (p.Ala4=)	FREM2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3096786	NM_207361.6(FREM2):c.13G>T (p.Gly5Trp)	FREM2 (G5W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 625181	NM_207361.6(FREM2):c.15del (p.Thr6fs)	FREM2 (T6fs)	Deletion (frameshift variant)	Fraser syndrome 2	GPathogenic
Select item 3096788	NM_207361.6(FREM2):c.14G>T (p.Gly5Val)	FREM2 (G5V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3279797	NM_207361.6(FREM2):c.22G>A (p.Gly8Arg)	FREM2 (G8R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2766654	NM_207361.6(FREM2):c.24G>A (p.Gly8=)	FREM2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2823527	NM_207361.6(FREM2):c.30C>T (p.Ser10=)	FREM2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2571709	NM_207361.6(FREM2):c.38G>T (p.Arg13Leu)	FREM2 (R13L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 286386	NM_207361.6(FREM2):c.38G>A (p.Arg13Gln)	FREM2 (R13Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2865685	NM_207361.6(FREM2):c.39G>C (p.Arg13=)	FREM2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2802735	NM_207361.6(FREM2):c.42A>G (p.Thr14=)	FREM2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2209069	NM_207361.6(FREM2):c.52A>G (p.Thr18Ala)	FREM2 (T18A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 884195	NM_207361.6(FREM2):c.65C>T (p.Pro22Leu)	FREM2 (P22L)	Single nucleotide variant (missense variant)	Isolated cryptophthalmia +2 more	GUncertain significance
Select item 2868625	NM_207361.6(FREM2):c.66A>G (p.Pro22=)	FREM2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2997900	NM_207361.6(FREM2):c.81G>A (p.Pro27=)	FREM2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2789532	NM_207361.6(FREM2):c.84C>T (p.Pro28=)	FREM2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 193533	NM_207361.6(FREM2):c.84C>G (p.Pro28=)	FREM2	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 1992557	NM_207361.6(FREM2):c.87GCT[8] (p.Leu38_Ser39insLeu)	FREM2	Microsatellite (inframe_insertion)	not provided	GConflicting classifications of pathogenicity
Select item 3037638	NM_207361.6(FREM2):c.87G>C (p.Arg29=)	FREM2	Single nucleotide variant (synonymous variant)	FREM2-related disorder	GLikely benign
Select item 2778857	NM_207361.6(FREM2):c.88C>T (p.Leu30=)	FREM2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2730433	NM_207361.6(FREM2):c.91C>T (p.Leu31=)	FREM2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2027951	NM_207361.6(FREM2):c.93G>A (p.Leu31=)	FREM2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2766404	NM_207361.6(FREM2):c.102G>A (p.Leu34=)	FREM2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1597818	NM_207361.6(FREM2):c.105G>T (p.Leu35=)	FREM2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 592035	NM_207361.6(FREM2):c.105_106delinsTT (p.Leu36Phe)	FREM2 (L36F)	Indel (missense variant)	not provided	GUncertain significance
Select item 703191	NM_207361.6(FREM2):c.109C>T (p.Leu37Phe)	FREM2 (L37F)	Single nucleotide variant (missense variant)	Fraser syndrome 2 +1 more	GConflicting classifications of pathogenicity
Select item 704854	NM_207361.6(FREM2):c.111C>T (p.Leu37=)	FREM2	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 3096784	NM_207361.6(FREM2):c.130G>A (p.Val44Ile)	FREM2 (V44I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 311934	NM_207361.6(FREM2):c.135G>T (p.Pro45=)	FREM2	Single nucleotide variant (synonymous variant)	Fraser syndrome 1 +1 more	GConflicting classifications of pathogenicity
Select item 1561340	NM_207361.6(FREM2):c.168G>A (p.Leu56=)	FREM2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 311935	NM_207361.6(FREM2):c.175G>C (p.Gly59Arg)	FREM2 (G59R)	Single nucleotide variant (missense variant)	Fraser syndrome 2	GUncertain significance
Select item 880910	NM_207361.6(FREM2):c.176G>C (p.Gly59Ala)	FREM2 (G59A)	Single nucleotide variant (missense variant)	Fraser syndrome 2	GUncertain significance
Select item 702640	NM_207361.6(FREM2):c.176G>A (p.Gly59Asp)	FREM2 (G59D)	Single nucleotide variant (missense variant)	Fraser syndrome 2 +1 more	GBenign
Select item 193527	NM_207361.6(FREM2):c.177T>C (p.Gly59=)	FREM2	Single nucleotide variant (synonymous variant)	Fraser syndrome 2 +2 more	GConflicting classifications of pathogenicity
Select item 435262	NM_207361.6(FREM2):c.181G>C (p.Ala61Pro)	FREM2 (A61P)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2526658	NM_207361.6(FREM2):c.182C>A (p.Ala61Glu)	FREM2 (A61E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2866959	NM_207361.6(FREM2):c.183G>A (p.Ala61=)	FREM2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2803781	NM_207361.6(FREM2):c.187del (p.Ala63fs)	FREM2 (A63fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1906496	NM_207361.6(FREM2):c.184G>T (p.Gly62Trp)	FREM2 (G62W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2869008	NM_207361.6(FREM2):c.195G>A (p.Gly65=)	FREM2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2998149	NM_207361.6(FREM2):c.198C>T (p.Val66=)	FREM2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2628330	NM_207361.6(FREM2):c.215T>C (p.Ile72Thr)	FREM2 (I72T)	Single nucleotide variant (missense variant)	Fraser syndrome 1	GUncertain significance
Select item 1628444	NM_207361.6(FREM2):c.219G>A (p.Val73=)	FREM2	Single nucleotide variant (synonymous variant)	Isolated cryptophthalmia +2 more	GLikely benign
Select item 2813033	NM_207361.6(FREM2):c.231C>T (p.Arg77=)	FREM2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 727105	NM_207361.6(FREM2):c.234A>G (p.Gly78=)	FREM2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2762008	NM_207361.6(FREM2):c.237C>G (p.Leu79=)	FREM2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2987116	NM_207361.6(FREM2):c.243G>C (p.Val81=)	FREM2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1421158	NM_207361.6(FREM2):c.253C>T (p.Arg85Cys)	FREM2 (R85C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2618901	NM_207361.6(FREM2):c.259G>A (p.Val87Ile)	FREM2 (V87I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2785026	NM_207361.6(FREM2):c.264_265delinsAA (p.Trp88_Leu89delinsTer)	FREM2	Indel (nonsense)	not provided	GPathogenic
Select item 3279808	NM_207361.6(FREM2):c.265C>G (p.Leu89Val)	FREM2 (L89V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2280623	NM_207361.6(FREM2):c.265C>A (p.Leu89Met)	FREM2 (L89M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2094062	NM_207361.6(FREM2):c.265C>T (p.Leu89=)	FREM2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2865649	NM_207361.6(FREM2):c.273C>A (p.Pro91=)	FREM2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2788383	NM_207361.6(FREM2):c.276G>C (p.Leu92=)	FREM2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2879491	NM_207361.6(FREM2):c.279T>C (p.His93=)	FREM2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 880911	NM_207361.6(FREM2):c.297G>A (p.Val99=)	FREM2	Single nucleotide variant (synonymous variant)	Fraser syndrome 2 +1 more	GConflicting classifications of pathogenicity
Select item 2819239	NM_207361.6(FREM2):c.303C>T (p.Pro101=)	FREM2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 193538	NM_207361.6(FREM2):c.303C>A (p.Pro101=)	FREM2	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign

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