30958[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 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 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 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 147752	GRCh38/hg38 5p15.2-15.1(chr5:10212880-16770474)x3	ANKH, ANKRD33B +156 more	Copy number gain	See cases	GPathogenic
Select item 146802	GRCh38/hg38 5p15.2-15.1(chr5:12572563-17965988)x1	ANKH, BASP1 +123 more	Copy number loss	See cases	GPathogenic
Select item 59604	GRCh38/hg38 5p15.2-14.3(chr5:13609772-21930280)x1	ANKH, BASP1 +142 more	Copy number loss	See cases	GPathogenic
Select item 2550738	NM_033414.3(ZNF622):c.1366A>T (p.Met456Leu)	ZNF622 (M456L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305671	NM_033414.3(ZNF622):c.1328G>A (p.Arg443Gln)	ZNF622 (R443Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197286	NM_033414.3(ZNF622):c.1322G>A (p.Arg441Gln)	ZNF622 (R441Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197285	NM_033414.3(ZNF622):c.1319T>A (p.Met440Lys)	ZNF622 (M440K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3258958	NM_033414.3(ZNF622):c.1277A>C (p.Tyr426Ser)	ZNF622 (Y426S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3258956	NM_033414.3(ZNF622):c.1272G>T (p.Gln424His)	ZNF622 (Q424H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539601	NM_033414.3(ZNF622):c.1247G>A (p.Arg416Gln)	ZNF622 (R416Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2220468	NM_033414.3(ZNF622):c.1225G>A (p.Ala409Thr)	ZNF622 (A409T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3258957	NM_033414.3(ZNF622):c.1193G>C (p.Arg398Thr)	ZNF622 (R398T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 155086	GRCh38/hg38 5p15.1-14.3(chr5:16456444-18561765)x1	BASP1, BASP1-AS1 +41 more	Copy number loss	See cases	GUncertain significance
Select item 3197284	NM_033414.3(ZNF622):c.1129G>A (p.Asp377Asn)	ZNF622 (D377N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297977	NM_033414.3(ZNF622):c.1118A>G (p.Asn373Ser)	ZNF622 (N373S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197282	NM_033414.3(ZNF622):c.1014T>G (p.Asp338Glu)	ZNF622 (D338E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241783	NM_033414.3(ZNF622):c.965A>G (p.Gln322Arg)	ZNF622 (Q322R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269072	NM_033414.3(ZNF622):c.905G>T (p.Gly302Val)	ZNF622 (G302V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197290	NM_033414.3(ZNF622):c.901G>T (p.Val301Phe)	ZNF622 (V301F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615945	NM_033414.3(ZNF622):c.899G>T (p.Gly300Val)	ZNF622 (G300V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3258955	NM_033414.3(ZNF622):c.877A>C (p.Lys293Gln)	ZNF622 (K293Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380627	NM_033414.3(ZNF622):c.800A>G (p.Asn267Ser)	ZNF622 (N267S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2567886	NM_033414.3(ZNF622):c.739G>A (p.Gly247Ser)	ZNF622 (G247S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590825	NM_033414.3(ZNF622):c.736C>T (p.Leu246Phe)	ZNF622 (L246F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484721	NM_033414.3(ZNF622):c.701A>G (p.Asp234Gly)	ZNF622 (D234G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197289	NM_033414.3(ZNF622):c.684C>G (p.Asp228Glu)	ZNF622 (D228E)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2610370	NM_033414.3(ZNF622):c.646G>A (p.Asp216Asn)	ZNF622 (D216N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369880	NM_033414.3(ZNF622):c.576G>C (p.Lys192Asn)	ZNF622 (K192N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456231	NM_033414.3(ZNF622):c.497G>C (p.Arg166Pro)	LOC129993731, ZNF622 (R166P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197288	NM_033414.3(ZNF622):c.485G>C (p.Gly162Ala)	ZNF622 (G162A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2273704	NM_033414.3(ZNF622):c.410A>G (p.Lys137Arg)	ZNF622 (K137R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326553	NM_033414.3(ZNF622):c.383T>C (p.Met128Thr)	ZNF622 (M128T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308882	NM_033414.3(ZNF622):c.296T>C (p.Val99Ala)	ZNF622 (V99A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232041	NM_033414.3(ZNF622):c.188A>G (p.Lys63Arg)	ZNF622 (K63R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252718	NM_033414.3(ZNF622):c.79T>A (p.Trp27Arg)	ZNF622 (W27R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248335	NM_033414.3(ZNF622):c.59G>A (p.Arg20Gln)	ZNF622 (R20Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3148925	GRCh37/hg19 5p15.33-13.3(chr5:113577-31773283)x3	MRPL36, MTRR +70 more	Copy number gain	not provided	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 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 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 1703685	GRCh37/hg19 5p15.33-13.3(chr5:113576-29310520)	ADAMTS16, ADCY2 +67 more	Copy number gain	5p partial monosomy syndrome	GPathogenic
Select item 1527150	GRCh37/hg19 5p15.1(chr5:16384928-16969392)	MYO10, RETREG1 +1 more	Copy number loss	not specified	GUncertain significance
Select item 1527149	GRCh37/hg19 5p15.1(chr5:16341722-16701378)	MYO10, RETREG1 +1 more	Copy number gain	not specified	GUncertain significance
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 915985	GRCh37/hg19 5p15.33-14.3(chr5:71904-22078969)	LPCAT1, MYO10 +63 more	Copy number loss	5p partial monosomy syndrome	GPathogenic
Select item 814666	GRCh37/hg19 5p15.1(chr5:15093064-16669298)x3	ZNF622, MARCHF11 +3 more	Copy number gain	not provided	GUncertain significance
Select item 814652	GRCh37/hg19 5p15.33-14.2(chr5:113576-23364376)x1	ADAMTS16, ADCY2 +63 more	Copy number loss	not provided	GPathogenic
Select item 688316	GRCh37/hg19 5p15.2-14.3(chr5:11182916-18624750)x3	ANKH, BASP1 +12 more	Copy number gain	not provided	GUncertain significance
Select item 635930	Single allele	C5orf24, C5orf34 +600 more	Deletion	Neurodevelopmental disorder	GUncertain significance
Select item 625701	GRCh37/hg19 5p15.33-14.1(chr5:140474-26906925)	ADAMTS16, ADCY2 +67 more	Copy number loss	5p partial monosomy syndrome	GPathogenic
Select item 563035	GRCh37/hg19 5p15.2-15.1(chr5:10515035-17607385)x1	FBXL7, DAP +14 more	Copy number loss	not provided	GPathogenic
Select item 563031	GRCh37/hg19 5p15.32-14.3(chr5:5830053-19490899)x1	RETREG1, ANKRD33B +31 more	Copy number loss	not provided	GPathogenic
Select item 563027	GRCh37/hg19 5p15.33-13.2(chr5:113576-35739404)x3	ADAMTS12, ADAMTS16 +90 more	Copy number gain	not provided	GPathogenic
Select item 563026	GRCh37/hg19 5p15.33-14.3(chr5:113576-19167699)x1	ADAMTS16, ADCY2 +61 more	Copy number loss	not provided	GPathogenic
Select item 446326	GRCh37/hg19 5p15.33-13.3(chr5:25328-30672798)x1	ADAMTS16, ADCY2 +67 more	Copy number loss	See cases	GPathogenic

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