MARCHF6[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	LOC132089229, LOC132089231 +532 more	Copy number loss	See cases	GPathogenic
Select item 154867	GRCh38/hg38 5p15.33-14.1(chr5:22149-27611163)x1	LOC129993638, LOC129993639 +559 more	Copy number loss	See cases	GPathogenic
Select item 154578	GRCh38/hg38 5p15.33-14.1(chr5:22149-26593891)x1	LOC129993741, LOC129993742 +553 more	Copy number loss	See cases	GPathogenic
Select item 152692	GRCh38/hg38 5p15.33-14.1(chr5:22149-28589192)x1	ADAMTS16, ADAMTS16-DT +561 more	Copy number loss	See cases	GPathogenic
Select item 152423	GRCh38/hg38 5p15.33-15.1(chr5:22149-16930016)x1	MIR4636, MIR4637 +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	LOC123497907, LOC123497908 +1445 more	Copy number gain	See cases	GPathogenic
Select item 149556	GRCh38/hg38 5p15.33-14.3(chr5:22149-21217120)x1	LOC128772264, LOC129389254 +530 more	Copy number loss	See cases	GPathogenic
Select item 149057	GRCh38/hg38 5p15.33-14.3(chr5:22149-22775295)x1	RETREG1-AS1, ROPN1L +537 more	Copy number loss	See cases	GPathogenic
Select item 149039	GRCh38/hg38 5p15.33-14.1(chr5:22149-27187950)x1	MIR4458HG, MIR4635 +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	ADAMTS16, ADAMTS16-DT +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	LOC129993539, LOC129993540 +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	LOC129993673, LOC129993674 +559 more	Copy number loss	See cases	GPathogenic
Select item 147809	GRCh38/hg38 5p15.33-15.1(chr5:22149-15851376)x3	LINC02213, LINC02220 +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	LOC123493263, LOC123493264 +606 more	Copy number loss	See cases	GPathogenic
Select item 145514	GRCh38/hg38 5p15.33-14.1(chr5:22149-27788616)x1	ADAMTS16, ADAMTS16-DT +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	LOC129993669, LOC129993670 +552 more	Copy number loss	See cases	GPathogenic
Select item 59556	GRCh38/hg38 5p15.33-15.2(chr5:22149-12004091)x1	LOC129993681, LOC129993682 +384 more	Copy number loss	See cases	GPathogenic
Select item 59555	GRCh38/hg38 5p15.33-14.3(chr5:22149-23132046)x1	LOC129993650, LOC129993651 +538 more	Copy number loss	See cases	GPathogenic
Select item 59576	GRCh38/hg38 5p15.33-14.3(chr5:22419-19280892)x1	LOC129993700, LOC129993701 +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	LOC129993547, LOC129993548 +574 more	Copy number loss	See cases	GPathogenic
Select item 146130	GRCh38/hg38 5p15.33-11(chr5:49978-46114984)x3	CLPTM1L, CMBL +953 more	Copy number gain	See cases	GPathogenic
Select item 32815	GRCh38/hg38 5p15.33-15.1(chr5:49978-15678451)x1	LOC132089251, LOC132089252 +461 more	Copy number loss	See cases	GPathogenic
Select item 58068	GRCh38/hg38 5p15.33-13.2(chr5:54839-35680845)x3	LOC126807356, LOC128772262 +696 more	Copy number gain	See cases	GPathogenic
Select item 58067	GRCh38/hg38 5p15.33-12(chr5:54839-45649861)x3	LOC129993840, LOC129993841 +952 more	Copy number gain	See cases	GPathogenic
Select item 154011	GRCh38/hg38 5p15.33-15.2(chr5:113461-14684362)x1	LOC129993625, LOC129993626 +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	LOC108254683, LOC110120635 +334 more	Copy number loss	See cases	GPathogenic
Select item 152724	GRCh38/hg38 5p15.32-13.2(chr5:4849498-36818719)x3	LOC129993646, LOC129993647 +530 more	Copy number gain	See cases	GPathogenic
Select item 153385	GRCh38/hg38 5p15.32-14.3(chr5:4932707-18465361)x1	ADAMTS16, ADAMTS16-DT +304 more	Copy number loss	See cases	GPathogenic
Select item 151161	GRCh38/hg38 5p15.31-15.2(chr5:7670933-13623997)x1	LOC129993663, LOC129993664 +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 57145	GRCh38/hg38 5p15.31-15.2(chr5:9843412-11298705)x3	ANKRD33B, ATPSCKMT +70 more	Copy number gain	See cases	GUncertain significance
Select item 147752	GRCh38/hg38 5p15.2-15.1(chr5:10212880-16770474)x3	ANKH, ANKRD33B +156 more	Copy number gain	See cases	GPathogenic
Select item 635281	NM_005885.4(MARCHF6):c.19+2427TTTAT[641]	MARCHF6	Microsatellite (intron variant)	Epilepsy, familial adult myoclonic, 3	GPathogenic
Select item 694446	NC_000005.10:g.10356348_10356407TTTTA[(9_?)]TTTCA[(791_1035)]	MARCHF6	Microsatellite	Epilepsy, familial adult myoclonic, 3	GPathogenic
Select item 3123500	NM_005885.4(MARCHF6):c.214C>T (p.Arg72Trp)	MARCHF6 (R72W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3123505	NM_005885.4(MARCHF6):c.272G>A (p.Arg91Gln)	MARCHF6 (R91Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3123506	NM_005885.4(MARCHF6):c.347A>G (p.Lys116Arg)	MARCHF6 (K11R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123507	NM_005885.4(MARCHF6):c.383C>T (p.Thr128Met)	MARCHF6 (T80M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545014	NM_005885.4(MARCHF6):c.394G>A (p.Asp132Asn)	MARCHF6 (D27N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614624	NM_005885.4(MARCHF6):c.428G>C (p.Cys143Ser)	MARCHF6 (C143S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123508	NM_005885.4(MARCHF6):c.452C>T (p.Thr151Met)	MARCHF6 (T46M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123509	NM_005885.4(MARCHF6):c.481G>C (p.Val161Leu)	MARCHF6 (V161L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123510	NM_005885.4(MARCHF6):c.499A>G (p.Ile167Val)	MARCHF6 (I167V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123511	NM_005885.4(MARCHF6):c.545C>T (p.Pro182Leu)	MARCHF6 (P77L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3065753	NM_005885.4(MARCHF6):c.674A>G (p.Gln225Arg)	MARCHF6 (Q120R +2 more)	Single nucleotide variant (missense variant)	Epilepsy, familial adult myoclonic, 3	GUncertain significance
Select item 3123512	NM_005885.4(MARCHF6):c.675G>C (p.Gln225His)	MARCHF6 (Q225H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1696602	NM_005885.4(MARCHF6):c.914-8C>G	MARCHF6	Single nucleotide variant (intron variant)	Epilepsy, familial adult myoclonic, 3	GUncertain significance
Select item 3123513	NM_005885.4(MARCHF6):c.976C>A (p.Gln326Lys)	MARCHF6 (Q221K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602772	NM_005885.4(MARCHF6):c.1087C>T (p.Arg363Cys)	MARCHF6, MIR10397 (R363C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3123497	NM_005885.4(MARCHF6):c.1660C>G (p.Arg554Gly)	MARCHF6 (R449G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521606	NM_005885.4(MARCHF6):c.1676C>T (p.Thr559Ile)	MARCHF6 (T454I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123498	NM_005885.4(MARCHF6):c.1870C>T (p.Arg624Cys)	MARCHF6 (R519C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3048843	NM_005885.4(MARCHF6):c.2084T>C (p.Met695Thr)	MARCHF6 (M590T +2 more)	Single nucleotide variant (missense variant)	MARCHF6-related condition	GLikely benign
Select item 3123499	NM_005885.4(MARCHF6):c.2137T>C (p.Trp713Arg)	MARCHF6 (W608R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477692	NM_005885.4(MARCHF6):c.2141C>T (p.Ser714Phe)	MARCHF6 (S666F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554204	NM_005885.4(MARCHF6):c.2168T>C (p.Val723Ala)	MARCHF6 (V675A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123501	NM_005885.4(MARCHF6):c.2380G>A (p.Ala794Thr)	MARCHF6 (A746T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123502	NM_005885.4(MARCHF6):c.2492T>G (p.Val831Gly)	MARCHF6 (V831G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471655	NM_005885.4(MARCHF6):c.2500T>G (p.Leu834Val)	MARCHF6 (L834V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1049047	NM_005885.4(MARCHF6):c.2516C>T (p.Ala839Val)	MARCHF6 (A734V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3123503	NM_005885.4(MARCHF6):c.2603G>A (p.Arg868His)	MARCHF6 (R820H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123504	NM_005885.4(MARCHF6):c.2678G>A (p.Arg893Gln)	MARCHF6 (R893Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3148925	GRCh37/hg19 5p15.33-13.3(chr5:113577-31773283)x3	ADAMTS16, ADCY2 +70 more	Copy number gain	not provided	GPathogenic
Select item 3148923	GRCh37/hg19 5p15.33-15.2(chr5:113577-13341742)x1	ADAMTS16, ADCY2 +49 more	Copy number loss	not provided	GPathogenic
Select item 3062870	GRCh37/hg19 5p15.33-15.2(chr5:113576-10835556)x1	ADAMTS16, ADCY2 +47 more	Copy number loss	not specified	GPathogenic
Select item 3062869	GRCh37/hg19 5p15.33-15.1(chr5:3272715-17317051)x1	ADAMTS16, ADCY2 +33 more	Copy number loss	not specified	GPathogenic
Select item 3062864	GRCh37/hg19 5p15.33-14.3(chr5:113576-19388145)x1	ADAMTS16, ADCY2 +61 more	Copy number loss	not specified	GPathogenic
Select item 3062860	GRCh37/hg19 5p15.33-15.1(chr5:113576-17511896)x1	ADAMTS16, ADCY2 +61 more	Copy number loss	not specified	GPathogenic
Select item 3062831	GRCh37/hg19 5p15.33-14.1(chr5:113576-26534253)x1	ADAMTS16, ADCY2 +66 more	Copy number loss	not specified	GPathogenic
Select item 3062827	GRCh37/hg19 5p15.32-13.3(chr5:5259461-29748394)x1	ADAMTS16, ADCY2 +38 more	Copy number loss	not specified	GPathogenic
Select item 3062815	GRCh37/hg19 5p15.33-14.1(chr5:113576-28300709)x1	ADAMTS16, ADCY2 +67 more	Copy number loss	not specified	GPathogenic
Select item 2685147	GRCh37/hg19 5p15.31-15.1(chr5:9002950-15174932)x1	ANKH, ANKRD33B +15 more	Copy number loss	not provided	GPathogenic
Select item 2685145	GRCh37/hg19 5p15.33-14.3(chr5:862398-18927500)x1	ADAMTS16, ADCY2 +48 more	Copy number loss	not provided	GPathogenic
Select item 2685142	GRCh37/hg19 5p15.33-14.3(chr5:113577-21529653)x1	ADAMTS16, ADCY2 +62 more	Copy number loss	not provided	GPathogenic
Select item 2685141	GRCh37/hg19 5p15.33-13.3(chr5:113577-30529044)x1	ADAMTS16, ADCY2 +67 more	Copy number loss	not provided	GPathogenic
Select item 2685140	GRCh37/hg19 5p15.33-15.2(chr5:113577-11095056)x1	ADAMTS16, ADCY2 +48 more	Copy number loss	not provided	GPathogenic
Select item 2685139	GRCh37/hg19 5p15.33-13.2(chr5:113577-35613146)x1	ADAMTS12, ADAMTS16 +89 more	Copy number loss	not provided	GPathogenic
Select item 2684403	GRCh37/hg19 5p15.33-14.1(chr5:113577-27800913)x3	ADAMTS16, ADCY2 +67 more	Copy number gain	not provided	GPathogenic
Select item 2446724	GRCh37/hg19 5p15.2-15.1(chr5:10165922-18156739)x3	BASP1, RETREG1 +19 more	Copy number gain	Intellectual developmental disorder, autosomal dominant 63, with macrocephaly	GPathogenic
Select item 1809293	GRCh37/hg19 5p15.33-13.3(chr5:113577-31448527)x1	ADAMTS16, ADCY2 +69 more	Copy number loss	not provided	GPathogenic
Select item 1809200	GRCh37/hg19 5p15.33-14.1(chr5:113577-26164852)x1	ADAMTS16, ADCY2 +66 more	Copy number loss	not provided	GPathogenic
Select item 1808602	GRCh37/hg19 5p15.33-15.1(chr5:113577-17654787)x1	ADAMTS16, ADCY2 +61 more	Copy number loss	not provided	GPathogenic
Select item 1807906	GRCh37/hg19 5p15.33-13.3(chr5:1-32091038)x1	ADAMTS16, ADCY2 +71 more	Copy number loss	not provided	GPathogenic
Select item 1807840	GRCh37/hg19 5p15.31-14.3(chr5:8081005-22210970)x1	ANKH, ANKRD33B +23 more	Copy number loss	not provided	GPathogenic
Select item 1706484	GRCh37/hg19 5p15.33-13.3(chr5:113576-30712376)x1	ADAMTS16, ADCY2 +67 more	Copy number loss	See cases	GPathogenic
Select item 1703686	GRCh37/hg19 5p15.33-15.2(chr5:113576-12601027)	ADAMTS16, ADCY2 +48 more	Copy number loss	5p partial monosomy syndrome	GPathogenic
Select item 1703685	GRCh37/hg19 5p15.33-13.3(chr5:113576-29310520)	ADAMTS16, ADCY2 +67 more	Copy number gain	5p partial monosomy syndrome	GPathogenic
Select item 1340533	GRCh37/hg19 5p15.33-15.1(chr5:113577-16952167)x1	ADAMTS16, ADCY2 +60 more	Copy number loss	not provided	GPathogenic
Select item 1012369	GRCh37/hg19 5p15.33-13.3(chr5:22149-29048823)x1	MARCHF11, MARCHF6 +67 more	Copy number loss	See cases	GPathogenic
Select item 979665	GRCh37/hg19 5p15.2(chr5:10140764-10671308)x3	ATPSCKMT, MARCHF6 +4 more	Copy number gain	not provided	GUncertain significance

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