29193[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 619591	NC_000012.12:g.(1_3750000)_(5250000_9000000)del	GAPDH, GAU1 +477 more	Deletion	Tumoral calcinosis, hyperphosphatemic, familial, 1	Gnot provided
Select item 151288	GRCh37/hg19 12p13.33(chr12:70794-230421)x3	IQSEC3, IQSEC3-AS2	Copy number gain	See cases	GBenign
Select item 146024	GRCh38/hg38 12p13.33-13.31(chr12:45740-6945196)x3	ACRBP, ADIPOR2 +348 more	Copy number gain	See cases	GPathogenic
Select item 152732	GRCh38/hg38 12p13.33-13.32(chr12:54427-3639603)x1	ADIPOR2, B4GALNT3 +142 more	Copy number loss	See cases	GPathogenic
Select item 152450	GRCh38/hg38 12p13.33-13.32(chr12:54427-4004912)x1	ADIPOR2, B4GALNT3 +147 more	Copy number loss	See cases	GPathogenic
Select item 151004	GRCh38/hg38 12p13.33-11.1(chr12:54427-34608071)x4	TAS2R9, TEAD4 +1258 more	Copy number gain	See cases	GPathogenic
Select item 149131	GRCh38/hg38 12p13.33(chr12:54427-936828)x1	B4GALNT3, CCDC77 +44 more	Copy number loss	See cases	GUncertain significance
Select item 147092	GRCh38/hg38 12p13.33(chr12:54452-2558097)x1	ADIPOR2, B4GALNT3 +101 more	Copy number loss	See cases	GPathogenic
Select item 153962	GRCh38/hg38 12p13.33-11.1(chr12:64620-34682902)x4	CLEC12A, CLEC12A-AS1 +1258 more	Copy number gain	See cases	GPathogenic
Select item 778075	NM_001170738.2(IQSEC3):c.41A>G (p.Tyr14Cys)	IQSEC3 (Y14C)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2360401	NM_001170738.2(IQSEC3):c.110A>G (p.Asp37Gly)	IQSEC3 (D37G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399191	NM_001170738.2(IQSEC3):c.202C>T (p.Leu68Phe)	IQSEC3 (L68F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2642555	NM_001170738.2(IQSEC3):c.285G>A (p.Gln95=)	IQSEC3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 732536	NM_001170738.2(IQSEC3):c.324G>A (p.Ala108=)	IQSEC3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 783652	NM_001170738.2(IQSEC3):c.330T>C (p.Asp110=)	IQSEC3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 59794	GRCh38/hg38 12p13.33-11.1(chr12:77187-34380176)x3	LOC126861410, LOC126861411 +1258 more	Copy number gain	See cases	GPathogenic
Select item 59434	GRCh38/hg38 12p13.33(chr12:77187-356623)x1	IQSEC3, IQSEC3-AS1 +10 more	Copy number loss	See cases	GUncertain significance
Select item 149561	GRCh38/hg38 12p13.33-13.32(chr12:80412-4420585)x1	ADIPOR2, B4GALNT3 +170 more	Copy number loss	See cases	GPathogenic
Select item 148625	GRCh38/hg38 12p13.33(chr12:80412-2850599)x1	ADIPOR2, B4GALNT3 +114 more	Copy number loss	See cases	GPathogenic
Select item 59795	GRCh38/hg38 12p13.33-12.1(chr12:80412-25470329)x3	A2M, A2M-AS1 +1009 more	Copy number gain	See cases	GPathogenic
Select item 3110704	NM_001170738.2(IQSEC3):c.557A>G (p.Asn186Ser)	IQSEC3 (N186S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2219645	NM_001170738.2(IQSEC3):c.565G>A (p.Val189Met)	IQSEC3 (V189M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3110705	NM_001170738.2(IQSEC3):c.566T>C (p.Val189Ala)	IQSEC3 (V189A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2461835	NM_001170738.2(IQSEC3):c.592G>A (p.Ala198Thr)	IQSEC3 (A198T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2353089	NM_001170738.2(IQSEC3):c.607G>A (p.Asp203Asn)	IQSEC3 (D203N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 58952	GRCh38/hg38 12p13.33(chr12:99592-1786491)x1	LOC130007161, LOC130007162 +80 more	Copy number loss	See cases	GPathogenic
Select item 154528	GRCh38/hg38 12p13.33(chr12:121255-3003320)x1	ADIPOR2, B4GALNT3 +123 more	Copy number loss	See cases	GPathogenic
Select item 147419	GRCh38/hg38 12p13.33-11.1(chr12:121255-34603274)x3	LOC130007230, LOC130007231 +1257 more	Copy number gain	See cases	GPathogenic
Select item 144380	GRCh38/hg38 12p13.33(chr12:121255-260026)x3	IQSEC3, IQSEC3-AS1 +7 more	Copy number gain	See cases	GBenign
Select item 57044	GRCh38/hg38 12p13.33-13.32(chr12:121255-3968447)x1	ADIPOR2, B4GALNT3 +146 more	Copy number loss	See cases	GPathogenic
Select item 150982	GRCh38/hg38 12p13.33(chr12:121271-156659)x3	IQSEC3, LOC574538	Copy number gain	See cases	GLikely benign
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	ACAD10, ACADS +4836 more	Copy number gain	See cases	GPathogenic
Select item 150158	GRCh38/hg38 12p13.33-11.1(chr12:121271-34603261)x3	LOC126861494, LOC126861495 +1257 more	Copy number gain	See cases	GPathogenic
Select item 2345208	NM_001170738.2(IQSEC3):c.683C>T (p.Ala228Val)	IQSEC3 (A228V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3286452	NM_001170738.2(IQSEC3):c.694G>A (p.Gly232Ser)	IQSEC3 (G232S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2406385	NM_001170738.2(IQSEC3):c.707C>T (p.Ala236Val)	IQSEC3 (A236V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2364284	NM_001170738.2(IQSEC3):c.716C>T (p.Pro239Leu)	IQSEC3 (P239L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2388638	NM_001170738.2(IQSEC3):c.722C>T (p.Ala241Val)	IQSEC3 (A241V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2291245	NM_001170738.2(IQSEC3):c.728C>G (p.Ala243Gly)	IQSEC3 (A243G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2591486	NM_001170738.2(IQSEC3):c.758C>T (p.Pro253Leu)	IQSEC3 (P253L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2340774	NM_001170738.2(IQSEC3):c.776C>T (p.Ser259Phe)	IQSEC3 (S259F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2642556	NM_001170738.2(IQSEC3):c.787G>A (p.Gly263Ser)	IQSEC3 (G263S)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2386035	NM_001170738.2(IQSEC3):c.806C>T (p.Ser269Phe)	IQSEC3 (S269F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2569229	NM_001170738.2(IQSEC3):c.811G>A (p.Gly271Ser)	IQSEC3 (G271S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2459026	NM_001170738.2(IQSEC3):c.814C>T (p.Arg272Trp)	IQSEC3 (R272W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2642557	NM_001170738.2(IQSEC3):c.836C>T (p.Thr279Met)	IQSEC3 (T279M)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2509388	NM_001170738.2(IQSEC3):c.839C>T (p.Ala280Val)	IQSEC3 (A280V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2242064	NM_001170738.2(IQSEC3):c.850C>T (p.His284Tyr)	IQSEC3 (H284Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2397040	NM_001170738.2(IQSEC3):c.853G>A (p.Ala285Thr)	IQSEC3 (A285T)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2356174	NM_001170738.2(IQSEC3):c.947G>A (p.Arg316Gln)	IQSEC3, LOC574538 (R13Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2473359	NM_001170738.2(IQSEC3):c.1054T>A (p.Ser352Thr)	IQSEC3, LOC574538 (S352T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 692309	NM_001170738.2(IQSEC3):c.1058T>C (p.Leu353Pro)	LOC574538, IQSEC3 (L353P +1 more)	Single nucleotide variant (missense variant +1 more)	Arthrogryposis multiplex congenita +1 more	GUncertain significance
Select item 785895	NM_001170738.2(IQSEC3):c.1061G>A (p.Arg354His)	IQSEC3, LOC574538 (R354H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 3286457	NM_001170738.2(IQSEC3):c.1078A>G (p.Thr360Ala)	IQSEC3, LOC574538 (T57A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3110685	NM_001170738.2(IQSEC3):c.1089C>G (p.Ser363Arg)	IQSEC3, LOC574538 (S60R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 717712	NM_001170738.2(IQSEC3):c.1107G>A (p.Ala369=)	IQSEC3, LOC574538	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 3110686	NM_001170738.2(IQSEC3):c.1118G>T (p.Gly373Val)	IQSEC3, LOC574538 (G70V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480958	NM_001170738.2(IQSEC3):c.1132G>C (p.Gly378Arg)	IQSEC3, LOC574538 (G75R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524056	NM_001170738.2(IQSEC3):c.1153C>T (p.Pro385Ser)	IQSEC3, LOC574538 (P385S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110688	NM_001170738.2(IQSEC3):c.1178G>T (p.Gly393Val)	IQSEC3, LOC574538 (G393V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207791	NM_001170738.2(IQSEC3):c.1192C>A (p.Leu398Met)	IQSEC3, LOC574538 (L398M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3110689	NM_001170738.2(IQSEC3):c.1275G>T (p.Met425Ile)	IQSEC3, LOC574538 (M425I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2364681	NM_001170738.2(IQSEC3):c.1288G>A (p.Glu430Lys)	IQSEC3, LOC574538 (E127K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3025702	NM_001170738.2(IQSEC3):c.1317C>A (p.Ala439=)	IQSEC3, LOC574538	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2469061	NM_001170738.2(IQSEC3):c.1334G>A (p.Gly445Glu)	IQSEC3, LOC574538 (G445E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110690	NM_001170738.2(IQSEC3):c.1375G>A (p.Ala459Thr)	IQSEC3, LOC574538 (A459T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521011	NM_001170738.2(IQSEC3):c.1376C>T (p.Ala459Val)	IQSEC3, LOC574538 (A156V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 718779	NM_001170738.2(IQSEC3):c.1381C>T (p.Pro461Ser)	IQSEC3, LOC574538 (P461S +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3286456	NM_001170738.2(IQSEC3):c.1409C>A (p.Thr470Asn)	IQSEC3, LOC574538 (T167N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110691	NM_001170738.2(IQSEC3):c.1409C>T (p.Thr470Ile)	IQSEC3, LOC574538 (T470I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333805	NM_001170738.2(IQSEC3):c.1457G>A (p.Arg486Gln)	IQSEC3, LOC574538 (R486Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339610	NM_001170738.2(IQSEC3):c.1527C>G (p.Asn509Lys)	IQSEC3, LOC574538 (N509K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493214	NM_001170738.2(IQSEC3):c.1574G>A (p.Gly525Asp)	IQSEC3, LOC574538 (G222D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110692	NM_001170738.2(IQSEC3):c.1610C>T (p.Ala537Val)	IQSEC3, LOC574538 (A537V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110693	NM_001170738.2(IQSEC3):c.1709A>G (p.Lys570Arg)	IQSEC3, LOC574538 (K267R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516950	NM_001170738.2(IQSEC3):c.1712C>T (p.Thr571Ile)	IQSEC3, LOC574538 (T268I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461214	NM_001170738.2(IQSEC3):c.1754G>T (p.Arg585Ile)	IQSEC3, LOC574538 (R585I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110694	NM_001170738.2(IQSEC3):c.1763A>G (p.Glu588Gly)	IQSEC3, LOC574538 (E285G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512519	NM_001170738.2(IQSEC3):c.1810A>G (p.Thr604Ala)	IQSEC3, LOC574538 (T301A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286458	NM_001170738.2(IQSEC3):c.1819G>A (p.Ala607Thr)	IQSEC3, LOC574538 (A607T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110695	NM_001170738.2(IQSEC3):c.1832C>T (p.Ser611Leu)	IQSEC3, LOC574538 (S611L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276114	NM_001170738.2(IQSEC3):c.1849G>A (p.Ala617Thr)	IQSEC3, LOC574538 (A617T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2397541	NM_001170738.2(IQSEC3):c.1850C>T (p.Ala617Val)	IQSEC3, LOC574538 (A314V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485251	NM_001170738.2(IQSEC3):c.1868A>T (p.Gln623Leu)	IQSEC3, LOC574538 (Q320L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465172	NM_001170738.2(IQSEC3):c.1892G>C (p.Arg631Pro)	IQSEC3, LOC574538 (R631P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3056513	NM_001170738.2(IQSEC3):c.1992-5T>A	IQSEC3, LOC574538	Single nucleotide variant (non-coding transcript variant +1 more)	IQSEC3-related disorder	GLikely benign
Select item 2350162	NM_001170738.2(IQSEC3):c.2026C>T (p.Arg676Cys)	IQSEC3, LOC574538 (R373C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3110697	NM_001170738.2(IQSEC3):c.2029G>A (p.Gly677Ser)	IQSEC3, LOC574538 (G374S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2226693	NM_001170738.2(IQSEC3):c.2068C>T (p.Leu690Phe)	IQSEC3, LOC574538 (L690F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2391595	NM_001170738.2(IQSEC3):c.2140C>T (p.Arg714Cys)	IQSEC3, LOC574538 (R411C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110698	NM_001170738.2(IQSEC3):c.2141G>A (p.Arg714His)	IQSEC3, LOC574538 (R411H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286460	NM_001170738.2(IQSEC3):c.2227C>G (p.Arg743Gly)	IQSEC3 (R743G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110699	NM_001170738.2(IQSEC3):c.2227C>T (p.Arg743Cys)	IQSEC3 (R743C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281516	NM_001170738.2(IQSEC3):c.2236G>C (p.Gly746Arg)	IQSEC3 (G443R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467716	NM_001170738.2(IQSEC3):c.2389A>G (p.Asn797Asp)	IQSEC3 (N494D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286455	NM_001170738.2(IQSEC3):c.2458G>A (p.Ala820Thr)	IQSEC3 (A517T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110700	NM_001170738.2(IQSEC3):c.2572G>A (p.Gly858Ser)	IQSEC3 (G555S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338741	NM_001170738.2(IQSEC3):c.2576T>C (p.Met859Thr)	IQSEC3 (M859T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3039384	NM_001170738.2(IQSEC3):c.2593G>A (p.Val865Met)	IQSEC3 (V562M +1 more)	Single nucleotide variant (missense variant)	IQSEC3-related disorder	GLikely benign
Select item 774702	NM_001170738.2(IQSEC3):c.2809+13_2809+32dup	IQSEC3, IQSEC3-AS1	Duplication (splice donor variant)	not provided	GBenign

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