SEMA5A[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2579279	GRCh38/hg38 5p15.33-15.2(chr5:9999-14320000)x1	LOC129993645, LOC129993646 +419 more	Copy number loss	Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome	GPathogenic
Select item 154955	GRCh38/hg38 5p15.33-14.3(chr5:22149-21726360)x1	LOC129993633, LOC129993634 +532 more	Copy number loss	See cases	GPathogenic
Select item 154867	GRCh38/hg38 5p15.33-14.1(chr5:22149-27611163)x1	LOC129993624, LOC129993625 +559 more	Copy number loss	See cases	GPathogenic
Select item 154578	GRCh38/hg38 5p15.33-14.1(chr5:22149-26593891)x1	ADAMTS16, ADAMTS16-DT +553 more	Copy number loss	See cases	GPathogenic
Select item 152692	GRCh38/hg38 5p15.33-14.1(chr5:22149-28589192)x1	LOC129993692, LOC129993693 +561 more	Copy number loss	See cases	GPathogenic
Select item 152423	GRCh38/hg38 5p15.33-15.1(chr5:22149-16930016)x1	ADAMTS16, ADAMTS16-DT +478 more	Copy number loss	See cases	GPathogenic
Select item 149959	GRCh38/hg38 5p15.33-13.2(chr5:22149-35831538)x1	ADAMTS12, ADAMTS16 +697 more	Copy number loss	See cases	GPathogenic
Select item 149824	GRCh38/hg38 5p15.33-q13.3(chr5:22149-74412725)x3	ACTBL2, ADAMTS12 +1445 more	Copy number gain	See cases	GPathogenic
Select item 149556	GRCh38/hg38 5p15.33-14.3(chr5:22149-21217120)x1	LOC126807323, LOC126807324 +530 more	Copy number loss	See cases	GPathogenic
Select item 149057	GRCh38/hg38 5p15.33-14.3(chr5:22149-22775295)x1	ADAMTS16, ADAMTS16-DT +537 more	Copy number loss	See cases	GPathogenic
Select item 149039	GRCh38/hg38 5p15.33-14.1(chr5:22149-27187950)x1	LOC132090721, LOC132090722 +556 more	Copy number loss	See cases	GPathogenic
Select item 148850	GRCh38/hg38 5p15.33-15.2(chr5:22149-11530391)x1	ADAMTS16, ADAMTS16-DT +384 more	Copy number loss	See cases	GPathogenic
Select item 148819	GRCh38/hg38 5p15.33-15.2(chr5:22149-11429258)x1	LOC126807286, LOC126807287 +384 more	Copy number loss	See cases	GPathogenic
Select item 148740	GRCh38/hg38 5p15.33-14.2(chr5:22149-23607053)x3	ADAMTS16, ADAMTS16-DT +542 more	Copy number gain	See cases	GPathogenic
Select item 148612	GRCh38/hg38 5p15.33-14.1(chr5:22149-28075106)x3	LOC108254683, LOC110120635 +559 more	Copy number gain	See cases	GPathogenic
Select item 148081	GRCh38/hg38 5p15.33-14.1(chr5:22149-28429241)x1	ADAMTS16, ADAMTS16-DT +561 more	Copy number loss	See cases	GPathogenic
Select item 147970	GRCh38/hg38 5p15.33-14.1(chr5:22149-27485619)x1	ADAMTS16, ADAMTS16-DT +559 more	Copy number loss	See cases	GPathogenic
Select item 147809	GRCh38/hg38 5p15.33-15.1(chr5:22149-15851376)x3	LOC112997550, LOC112997551 +462 more	Copy number gain	See cases	GPathogenic
Select item 147356	GRCh38/hg38 5p15.33-15.1(chr5:22149-16584575)x1	ADAMTS16, ADAMTS16-DT +473 more	Copy number loss	See cases	GPathogenic
Select item 146365	GRCh38/hg38 5p15.33-13.3(chr5:22149-32248010)x1	ADAMTS16, ADAMTS16-DT +606 more	Copy number loss	See cases	GPathogenic
Select item 145514	GRCh38/hg38 5p15.33-14.1(chr5:22149-27788616)x1	LOC126807328, LOC126807329 +559 more	Copy number loss	See cases	GPathogenic
Select item 144314	GRCh38/hg38 5p15.33-15.2(chr5:22149-12819999)x1	ADAMTS16, ADAMTS16-DT +388 more	Copy number loss	See cases	GPathogenic
Select item 144306	GRCh38/hg38 5p15.33-13.3(chr5:22149-33418188)x3	ADAMTS16, ADAMTS16-DT +642 more	Copy number gain	See cases	GPathogenic
Select item 144286	GRCh38/hg38 5p15.33-14.1(chr5:22149-25699605)x1	LOC129993561, LOC129993562 +552 more	Copy number loss	See cases	GPathogenic
Select item 59573	GRCh38/hg38 5p15.33-15.2(chr5:22149-10044087)x1	ADAMTS16, ADAMTS16-DT +318 more	Copy number loss	See cases	GPathogenic
Select item 59556	GRCh38/hg38 5p15.33-15.2(chr5:22149-12004091)x1	LOC129993559, LOC129993560 +384 more	Copy number loss	See cases	GPathogenic
Select item 59555	GRCh38/hg38 5p15.33-14.3(chr5:22149-23132046)x1	ADAMTS16, ADAMTS16-DT +538 more	Copy number loss	See cases	GPathogenic
Select item 59576	GRCh38/hg38 5p15.33-14.3(chr5:22419-19280892)x1	LOC129993643, LOC129993644 +521 more	Copy number loss	See cases	GPathogenic
Select item 161034	GRCh38/hg38 5p15.33-15.1(chr5:49978-15678451)x1	ADAMTS16, ADAMTS16-DT +461 more	Copy number loss	See cases	GPathogenic
Select item 146618	GRCh38/hg38 5p15.33-13.3(chr5:49978-30112535)x1	ADAMTS16, ADAMTS16-DT +574 more	Copy number loss	See cases	GPathogenic
Select item 146130	GRCh38/hg38 5p15.33-11(chr5:49978-46114984)x3	ADAMTS12, ADAMTS16 +953 more	Copy number gain	See cases	GPathogenic
Select item 32815	GRCh38/hg38 5p15.33-15.1(chr5:49978-15678451)x1	ADAMTS16, ADAMTS16-DT +461 more	Copy number loss	See cases	GPathogenic
Select item 58068	GRCh38/hg38 5p15.33-13.2(chr5:54839-35680845)x3	LINC02116, LINC02120 +696 more	Copy number gain	See cases	GPathogenic
Select item 58067	GRCh38/hg38 5p15.33-12(chr5:54839-45649861)x3	ADAMTS12, ADAMTS16 +952 more	Copy number gain	See cases	GPathogenic
Select item 154011	GRCh38/hg38 5p15.33-15.2(chr5:113461-14684362)x1	ADAMTS16, ADAMTS16-DT +443 more	Copy number loss	See cases	GPathogenic
Select item 153462	GRCh38/hg38 5p15.33-13.2(chr5:113461-33998289)x1	ADAMTS12, ADAMTS16 +657 more	Copy number loss	See cases	GPathogenic
Select item 59603	GRCh38/hg38 5p15.33-15.1(chr5:2180761-17602433)x1	LOC129993721, LOC129993722 +334 more	Copy number loss	See cases	GPathogenic
Select item 152724	GRCh38/hg38 5p15.32-13.2(chr5:4849498-36818719)x3	ADAMTS12, ADAMTS16 +530 more	Copy number gain	See cases	GPathogenic
Select item 153385	GRCh38/hg38 5p15.32-14.3(chr5:4932707-18465361)x1	LOC126807306, LOC126807307 +304 more	Copy number loss	See cases	GPathogenic
Select item 151161	GRCh38/hg38 5p15.31-15.2(chr5:7670933-13623997)x1	ADCY2, ANKRD33B +112 more	Copy number loss	See cases	GPathogenic
Select item 148055	GRCh38/hg38 5p15.31-15.2(chr5:8824306-14246099)x1	ANKRD33B, ATPSCKMT +113 more	Copy number loss	See cases	GPathogenic
Select item 2254789	NM_003966.3(SEMA5A):c.3157C>G (p.Pro1053Ala)	SEMA5A (P1053A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 715979	NM_003966.3(SEMA5A):c.3129C>T (p.Ile1043=)	SEMA5A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 744036	NM_003966.3(SEMA5A):c.3106-8T>C	SEMA5A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 734449	NM_003966.3(SEMA5A):c.3090G>A (p.Ser1030=)	SEMA5A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2655293	NM_003966.3(SEMA5A):c.3039C>T (p.Pro1013=)	SEMA5A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 745365	NM_003966.3(SEMA5A):c.3024C>T (p.Pro1008=)	SEMA5A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3038259	NM_003966.3(SEMA5A):c.3008C>T (p.Ala1003Val)	SEMA5A (A1003V)	Single nucleotide variant (missense variant)	SEMA5A-related disorder	GLikely benign
Select item 782995	NM_003966.3(SEMA5A):c.3003C>T (p.His1001=)	SEMA5A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3041731	NM_003966.3(SEMA5A):c.2984G>A (p.Arg995Gln)	SEMA5A (R995Q)	Single nucleotide variant (missense variant)	SEMA5A-related disorder	GBenign
Select item 748888	NM_003966.3(SEMA5A):c.2979C>T (p.Cys993=)	SEMA5A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2362865	NM_003966.3(SEMA5A):c.2965G>A (p.Val989Ile)	SEMA5A (V989I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280007	NM_003966.3(SEMA5A):c.2944G>A (p.Gly982Ser)	SEMA5A (G982S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3059430	NM_003966.3(SEMA5A):c.2943C>T (p.Leu981=)	SEMA5A	Single nucleotide variant (synonymous variant)	SEMA5A-related disorder	GBenign
Select item 91956	NM_003966.3(SEMA5A):c.2928G>C (p.Leu976=)	SEMA5A	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2484396	NM_003966.3(SEMA5A):c.2920G>C (p.Val974Leu)	SEMA5A (V974L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159866	NM_003966.3(SEMA5A):c.2891G>A (p.Gly964Glu)	SEMA5A (G964E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159865	NM_003966.3(SEMA5A):c.2872G>A (p.Val958Ile)	SEMA5A (V958I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370179	NM_003966.3(SEMA5A):c.2869A>G (p.Ser957Gly)	SEMA5A (S957G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2655294	NM_003966.3(SEMA5A):c.2866A>G (p.Ser956Gly)	SEMA5A (S956G)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 777593	NM_003966.3(SEMA5A):c.2846-8T>C	SEMA5A	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 755064	NM_003966.3(SEMA5A):c.2845+10G>A	SEMA5A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 767994	NM_003966.3(SEMA5A):c.2845+8C>G	SEMA5A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2546047	NM_003966.3(SEMA5A):c.2819G>A (p.Cys940Tyr)	SEMA5A (C940Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 733345	NM_003966.3(SEMA5A):c.2817G>A (p.Pro939=)	SEMA5A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3159864	NM_003966.3(SEMA5A):c.2813G>A (p.Arg938Gln)	SEMA5A (R938Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591034	NM_003966.3(SEMA5A):c.2794G>A (p.Gly932Arg)	SEMA5A (G932R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3388045	NM_003966.3(SEMA5A):c.2769G>T (p.Leu923=)	SEMA5A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3317368	NM_003966.3(SEMA5A):c.2764C>T (p.Leu922Phe)	SEMA5A (L922F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484536	NM_003966.3(SEMA5A):c.2758T>C (p.Cys920Arg)	SEMA5A (C920R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159863	NM_003966.3(SEMA5A):c.2755C>A (p.Gln919Lys)	SEMA5A (Q919K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350111	NM_003966.3(SEMA5A):c.2749G>A (p.Ala917Thr)	SEMA5A (A917T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3317366	NM_003966.3(SEMA5A):c.2737G>A (p.Val913Ile)	SEMA5A (V913I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 780941	NM_003966.3(SEMA5A):c.2703G>A (p.Glu901=)	SEMA5A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2276670	NM_003966.3(SEMA5A):c.2690A>G (p.Glu897Gly)	SEMA5A (E897G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 728944	NM_003966.3(SEMA5A):c.2689+6C>T	SEMA5A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 742083	NM_003966.3(SEMA5A):c.2676G>A (p.Thr892=)	SEMA5A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 723501	NM_003966.3(SEMA5A):c.2619G>A (p.Pro873=)	SEMA5A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2599082	NM_003966.3(SEMA5A):c.2599T>A (p.Ser867Thr)	SEMA5A (S867T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3317363	NM_003966.3(SEMA5A):c.2596C>T (p.Arg866Cys)	SEMA5A (R866C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3035314	NM_003966.3(SEMA5A):c.2595C>T (p.Thr865=)	SEMA5A	Single nucleotide variant (synonymous variant)	SEMA5A-related disorder	GLikely benign
Select item 3159862	NM_003966.3(SEMA5A):c.2579G>A (p.Gly860Glu)	SEMA5A (G860E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303581	NM_003966.3(SEMA5A):c.2575G>C (p.Gly859Arg)	SEMA5A (G859R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 713458	NM_003966.3(SEMA5A):c.2575G>A (p.Gly859Ser)	SEMA5A (G859S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2673004	NM_003966.3(SEMA5A):c.2571C>T (p.Cys857=)	SEMA5A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 751690	NM_003966.3(SEMA5A):c.2519-8C>T	SEMA5A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 738795	NM_003966.3(SEMA5A):c.2466T>C (p.Pro822=)	SEMA5A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2412460	NM_003966.3(SEMA5A):c.2443G>A (p.Glu815Lys)	SEMA5A (E815K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391957	NM_003966.3(SEMA5A):c.2393G>A (p.Arg798His)	SEMA5A (R798H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159861	NM_003966.3(SEMA5A):c.2392C>T (p.Arg798Cys)	SEMA5A (R798C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 782096	NM_003966.3(SEMA5A):c.2376G>A (p.Ser792=)	SEMA5A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 780953	NM_003966.3(SEMA5A):c.2373G>A (p.Thr791=)	SEMA5A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 752757	NM_003966.3(SEMA5A):c.2340C>T (p.Ala780=)	SEMA5A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3046664	NM_003966.3(SEMA5A):c.2328G>T (p.Gly776=)	SEMA5A	Single nucleotide variant (synonymous variant)	SEMA5A-related disorder	GLikely benign
Select item 791255	NM_003966.3(SEMA5A):c.2272G>T (p.Asp758Tyr)	SEMA5A (D758Y)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3159860	NM_003966.3(SEMA5A):c.2256G>T (p.Met752Ile)	SEMA5A (M752I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 430028	NM_003966.3(SEMA5A):c.2240G>A (p.Arg747Lys)	SEMA5A (R747K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 718277	NM_003966.3(SEMA5A):c.2214T>C (p.Ala738=)	SEMA5A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3159859	NM_003966.3(SEMA5A):c.2194A>G (p.Thr732Ala)	SEMA5A (T732A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524589	NM_003966.3(SEMA5A):c.2167G>A (p.Gly723Ser)	SEMA5A (G723S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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