2192[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144164	GRCh38/hg38 22q11.1-13.33(chr22:16916608-50739836)x3	IL17RA, LINC01640 +2088 more	Copy number gain	See cases	GPathogenic
Select item 145336	GRCh38/hg38 22q11.1-13.33(chr22:16916743-50739785)x3	LOC130067403, LOC130067404 +2088 more	Copy number gain	See cases	GPathogenic
Select item 57942	GRCh38/hg38 22q12.3-13.33(chr22:37061769-50738932)x3	LOC130067651, LOC130067652 +1004 more	Copy number gain	See cases	GPathogenic
Select item 145111	GRCh38/hg38 22q13.1-13.33(chr22:40202014-50735806)x3	LOC130067596, LOC130067597 +687 more	Copy number gain	See cases	GPathogenic
Select item 147775	GRCh38/hg38 22q13.2-13.33(chr22:41871143-50739836)x1	A4GALT, ACR +580 more	Copy number loss	See cases	GPathogenic
Select item 154688	GRCh38/hg38 22q13.2-13.33(chr22:42080077-50739836)x3	LOC126863184, LOC126863185 +541 more	Copy number gain	See cases	GPathogenic
Select item 146215	GRCh38/hg38 22q13.2-13.31(chr22:42197923-47305564)x4	LOC130067605, LOC130067606 +303 more	Copy number gain	See cases	GPathogenic
Select item 153178	GRCh38/hg38 22q13.2-13.33(chr22:42380961-50759410)x3	LOC126863187, LOC126863188 +523 more	Copy number gain	See cases	GPathogenic
Select item 57636	GRCh38/hg38 22q13.2-13.33(chr22:42433752-50738932)x1	A4GALT, ACR +521 more	Copy number loss	See cases	GPathogenic
Select item 147622	GRCh38/hg38 22q13.2-13.33(chr22:42493445-50268479)x1	A4GALT, ALG12 +428 more	Copy number loss	See cases	GPathogenic
Select item 57944	GRCh38/hg38 22q13.2-13.33(chr22:42599757-50725241)x3	A4GALT, ADM2 +502 more	Copy number gain	See cases	GPathogenic
Select item 57945	GRCh38/hg38 22q13.2-13.33(chr22:42653747-50739836)x3	LOC126863187, LOC126863188 +495 more	Copy number gain	See cases	GPathogenic
Select item 148050	GRCh38/hg38 22q13.2-13.33(chr22:42710276-50739836)x3	CIMAP1B, CPT1B +492 more	Copy number gain	See cases	GPathogenic
Select item 57669	GRCh38/hg38 22q13.2-13.33(chr22:42826246-50739836)x1	LOC130067640, LOC130067641 +483 more	Copy number loss	See cases	GPathogenic
Select item 152914	GRCh38/hg38 22q13.2-13.33(chr22:42837094-50735806)x1	ADM2, ALG12 +481 more	Copy number loss	See cases	GPathogenic
Select item 976862	NC_000022.11:g.43032129_50739836del	CRELD2, DENND6B +471 more	Deletion	Phelan-McDermid syndrome	GPathogenic
Select item 152340	GRCh38/hg38 22q13.2-13.33(chr22:43187980-50745444)x1	ACR, ADM2 +451 more	Copy number loss	See cases	GPathogenic
Select item 976870	NC_000022.11:g.43802117_50806121del	DENND6B, EFCAB6 +443 more	Deletion	Phelan-McDermid syndrome	GPathogenic
Select item 57670	GRCh38/hg38 22q13.31-13.33(chr22:43807366-50739836)x1	ACR, ADM2 +441 more	Copy number loss	See cases	GPathogenic
Select item 146121	GRCh38/hg38 22q13.31-13.33(chr22:43902561-50739836)x1	ACR, ADM2 +434 more	Copy number loss	See cases	GPathogenic
Select item 146895	GRCh38/hg38 22q13.31-13.33(chr22:43992879-50683114)x3	ADM2, ALG12 +428 more	Copy number gain	See cases	GBenign
Select item 976875	NC_000022.11:g.44245760_50806121del	LOC121627953, LOC121627954 +411 more	Deletion	Phelan-McDermid syndrome	GPathogenic
Select item 3062348	GRCh38/hg38 22q13.31-13.33(chr22:44549957-50789329)	CHKB, LOC112695108 +404 more	Copy number loss	Phelan-McDermid syndrome	GPathogenic
Select item 144383	GRCh38/hg38 22q13.31-13.33(chr22:44606363-50739836)x1	ACR, ADM2 +401 more	Copy number loss	See cases	GPathogenic
Select item 976876	NC_000022.11:g.44702479_50806138del	CPT1B, CRELD2 +401 more	Deletion	Phelan-McDermid syndrome	GPathogenic
Select item 57672	GRCh38/hg38 22q13.31-13.33(chr22:44740175-50739836)x1	ACR, ADM2 +396 more	Copy number loss	See cases	GPathogenic
Select item 147743	GRCh38/hg38 22q13.31-13.33(chr22:44764289-50739836)x1	ACR, ADM2 +396 more	Copy number loss	See cases	GPathogenic
Select item 147377	GRCh38/hg38 22q13.31-13.33(chr22:44797239-50739836)x3	ACR, ADM2 +396 more	Copy number gain	See cases	GPathogenic
Select item 57947	GRCh38/hg38 22q13.31-13.33(chr22:44811200-50739836)x3	LOC130067697, LOC130067698 +396 more	Copy number gain	See cases	GPathogenic
Select item 155419	GRCh38/hg38 22q13.31(chr22:44832749-46353315)x3	ARHGAP8, ATXN10 +105 more	Copy number gain	See cases	GUncertain significance
Select item 57264	GRCh38/hg38 22q13.31-13.33(chr22:45239376-50739836)x1	ACR, ADM2 +371 more	Copy number loss	See cases	GPathogenic
Select item 149163	GRCh38/hg38 22q13.31(chr22:45445795-47832195)x1	LOC126863174, LOC126863175 +129 more	Copy number loss	See cases	GUncertain significance
Select item 1235073	NC_000022.11:g.45502712G>C	FBLN1	Single nucleotide variant	not provided	GBenign
Select item 1250203	NC_000022.11:g.45502794G>C	FBLN1	Single nucleotide variant	not provided	GBenign
Select item 756467	NM_006486.3(FBLN1):c.30C>A (p.Val10=)	FBLN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1031049	NM_006486.3(FBLN1):c.32C>A (p.Pro11Gln)	FBLN1 (P11Q)	Single nucleotide variant (missense variant)	Synpolydactyly type 2	GUncertain significance
Select item 2976052	NM_006486.3(FBLN1):c.58C>T (p.Leu20Phe)	FBLN1 (L20F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1522584	NM_006486.3(FBLN1):c.62C>T (p.Ala21Val)	FBLN1 (A21V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 193340	NM_006486.3(FBLN1):c.72G>A (p.Ala24=)	FBLN1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 2853750	NM_006486.3(FBLN1):c.74C>T (p.Ala25Val)	FBLN1 (A25V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2184023	NM_006486.3(FBLN1):c.74C>A (p.Ala25Asp)	FBLN1 (A25D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3031313	NM_006486.3(FBLN1):c.79+6G>A	FBLN1	Single nucleotide variant (intron variant)	FBLN1-related disorder	GLikely benign
Select item 3021707	NM_006486.3(FBLN1):c.79+13C>G	FBLN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3021231	NM_006486.3(FBLN1):c.79+14G>C	FBLN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1975844	NM_006486.3(FBLN1):c.79+19C>T	FBLN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1181351	NM_006486.3(FBLN1):c.80-101G>A	FBLN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1260958	NM_006486.3(FBLN1):c.80-21C>T	FBLN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2286530	NM_006486.3(FBLN1):c.86C>T (p.Ala29Val)	FBLN1 (A29V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 727904	NM_006486.3(FBLN1):c.87G>A (p.Ala29=)	FBLN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1352644	NM_006486.3(FBLN1):c.89A>G (p.Asp30Gly)	FBLN1 (D30G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2566122	NM_006486.3(FBLN1):c.113C>T (p.Ala38Val)	FBLN1 (A38V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2976409	NM_006486.3(FBLN1):c.152C>T (p.Ser51Leu)	FBLN1 (S51L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3093304	NM_006486.3(FBLN1):c.170A>C (p.Glu57Ala)	FBLN1 (E57A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 787509	NM_006486.3(FBLN1):c.185+4C>T	FBLN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1286401	NM_006486.3(FBLN1):c.185+8T>C	FBLN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1661755	NM_006486.3(FBLN1):c.185+17C>T	FBLN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1279638	NM_006486.3(FBLN1):c.185+25T>G	FBLN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1182310	NM_006486.3(FBLN1):c.185+276_185+277insCTCTGCCACAGCTGGGCAGCTG	FBLN1	Insertion (intron variant)	not provided	GBenign
Select item 1257005	NM_006486.3(FBLN1):c.185+300A>G	FBLN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1260511	NM_006486.3(FBLN1):c.186-215T>G	FBLN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1281446	NM_006486.3(FBLN1):c.186-64G>A	FBLN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1397087	NM_006486.3(FBLN1):c.240G>A (p.Thr80=)	FBLN1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 288910	NM_006486.3(FBLN1):c.268C>T (p.Arg90Cys)	FBLN1 (R90C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 196437	NM_006486.3(FBLN1):c.279G>T (p.Thr93=)	FBLN1	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 2308793	NM_006486.3(FBLN1):c.286G>T (p.Gly96Cys)	FBLN1 (G96C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 284333	NM_006486.3(FBLN1):c.286G>A (p.Gly96Ser)	FBLN1 (G96S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3339034	NM_006486.3(FBLN1):c.293A>T (p.Asn98Ile)	FBLN1 (N98I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322939	NM_006486.3(FBLN1):c.299G>C (p.Ser100Thr)	FBLN1 (S100T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2086084	NM_006486.3(FBLN1):c.304G>A (p.Glu102Lys)	FBLN1 (E102K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 598401	NM_006486.3(FBLN1):c.309C>G (p.Ala103=)	FBLN1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 788493	NM_006486.3(FBLN1):c.312A>G (p.Thr104=)	FBLN1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2653288	NM_006486.3(FBLN1):c.321+6A>G	FBLN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1181690	NM_006486.3(FBLN1):c.321+73C>T	FBLN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1232253	NM_006486.3(FBLN1):c.321+309G>C	FBLN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1233551	NM_006486.3(FBLN1):c.321+325C>T	FBLN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1251705	NM_006486.3(FBLN1):c.322-307G>A	FBLN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1279385	NM_006486.3(FBLN1):c.322-293C>T	FBLN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1223892	NM_006486.3(FBLN1):c.322-102G>C	FBLN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1991437	NM_006486.3(FBLN1):c.322-17T>C	FBLN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 197279	NM_006486.3(FBLN1):c.353C>T (p.Ala118Val)	FBLN1 (A118V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1521254	NM_006486.3(FBLN1):c.378C>T (p.Cys126=)	FBLN1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1543548	NM_006486.3(FBLN1):c.422= (p.Gln141=)	FBLN1	Variation (no sequence alteration)	not provided	GLikely benign
Select item 1285261	NM_006486.3(FBLN1):c.422A>G (p.Gln141Arg)	FBLN1 (Q141R)	Single nucleotide variant (missense variant)	Synpolydactyly type 2 +1 more	GBenign
Select item 1529983	NM_006486.3(FBLN1):c.450C>T (p.Thr150=)	FBLN1	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 2584812	NM_006486.3(FBLN1):c.451G>A (p.Gly151Arg)	FBLN1 (G151R)	Single nucleotide variant (missense variant)	Synpolydactyly type 2	GUncertain significance
Select item 2710508	NM_006486.3(FBLN1):c.465C>T (p.Val155=)	FBLN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2491724	NM_006486.3(FBLN1):c.466G>C (p.Gly156Arg)	FBLN1 (G156R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2602523	NM_006486.3(FBLN1):c.482C>T (p.Thr161Met)	FBLN1 (T161M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3257167	NM_006486.3(FBLN1):c.483G>A (p.Thr161=)	FBLN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 775777	NM_006486.3(FBLN1):c.484+5C>A	FBLN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1274782	NM_006486.3(FBLN1):c.484+116dup	FBLN1	Duplication (intron variant)	not provided	GBenign
Select item 1273534	NM_006486.3(FBLN1):c.484+205C>T	FBLN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1238085	NM_006486.3(FBLN1):c.484+223T>C	FBLN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1228492	NM_006486.3(FBLN1):c.484+284T>C	FBLN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1274592	NM_006486.3(FBLN1):c.485-265G>A	FBLN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1247363	NM_006486.3(FBLN1):c.485-103G>A	FBLN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1231998	NM_006486.3(FBLN1):c.485-100T>C	FBLN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1238781	NM_006486.3(FBLN1):c.485-33A>G	FBLN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1524838	NM_006486.3(FBLN1):c.490A>G (p.Ile164Val)	FBLN1 (I164V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1264188	NM_006486.3(FBLN1):c.544+16C>G	FBLN1	Single nucleotide variant (intron variant)	not provided	GBenign

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