11044[Gene ID] - 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 59554	GRCh38/hg38 5p15.33-15.31(chr5:22149-7213275)x1	ADAMTS16, ADAMTS16-DT +272 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 153600	GRCh38/hg38 5p15.33-15.31(chr5:113461-8875933)x1	ADAMTS16, ADAMTS16-DT +300 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 147751	GRCh38/hg38 5p15.33-15.31(chr5:1544285-8681441)x3	ADAMTS16, ADAMTS16-DT +161 more	Copy number gain	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 148505	GRCh38/hg38 5p15.33-15.31(chr5:2886163-7108295)x1	ADAMTS16, ADAMTS16-DT +88 more	Copy number loss	See cases	GPathogenic
Select item 58069	GRCh38/hg38 5p15.33-15.31(chr5:3075612-7650835)x3	ADAMTS16, ADAMTS16-DT +91 more	Copy number gain	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 2544317	NM_006999.6(TENT4A):c.868G>T (p.Gly290Cys)	TENT4A (G290C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546127	NM_006999.6(TENT4A):c.920A>C (p.Glu307Ala)	TENT4A (E307A)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3176011	NM_006999.6(TENT4A):c.922C>T (p.Arg308Cys)	TENT4A (R308C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176012	NM_006999.6(TENT4A):c.967G>A (p.Val323Met)	TENT4A (V323M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3325378	NM_006999.6(TENT4A):c.1007C>T (p.Thr336Met)	TENT4A (T336M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176013	NM_006999.6(TENT4A):c.1051G>A (p.Val351Ile)	TENT4A (V351I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176014	NM_006999.6(TENT4A):c.1081G>A (p.Val361Ile)	TENT4A (V361I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3325380	NM_006999.6(TENT4A):c.1099A>G (p.Ile367Val)	TENT4A (I367V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176015	NM_006999.6(TENT4A):c.1259T>C (p.Ile420Thr)	TENT4A (I420T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176016	NM_006999.6(TENT4A):c.1492A>G (p.Met498Val)	TENT4A (M498V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3325379	NM_006999.6(TENT4A):c.1543G>A (p.Val515Met)	TENT4A (V515M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176017	NM_006999.6(TENT4A):c.1550C>T (p.Pro517Leu)	TENT4A (P517L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593139	NM_006999.6(TENT4A):c.1579G>A (p.Ala527Thr)	TENT4A (A527T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3325381	NM_006999.6(TENT4A):c.1671C>G (p.His557Gln)	TENT4A (H557Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176018	NM_006999.6(TENT4A):c.1727A>G (p.Asn576Ser)	TENT4A (N576S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3325382	NM_006999.6(TENT4A):c.1736A>G (p.Gln579Arg)	TENT4A (Q579R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3325376	NM_006999.6(TENT4A):c.1763C>T (p.Pro588Leu)	TENT4A (P588L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175998	NM_006999.6(TENT4A):c.1766A>G (p.Tyr589Cys)	TENT4A (Y589C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175999	NM_006999.6(TENT4A):c.1916C>T (p.Ala639Val)	TENT4A (A639V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3325377	NM_006999.6(TENT4A):c.1946C>G (p.Thr649Ser)	TENT4A (T649S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176000	NM_006999.6(TENT4A):c.2107G>A (p.Ala703Thr)	TENT4A (A703T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176001	NM_006999.6(TENT4A):c.2129C>T (p.Pro710Leu)	TENT4A (P710L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176002	NM_006999.6(TENT4A):c.2137C>G (p.Pro713Ala)	TENT4A (P713A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176003	NM_006999.6(TENT4A):c.2144C>T (p.Ala715Val)	TENT4A (A715V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176004	NM_006999.6(TENT4A):c.2156C>T (p.Pro719Leu)	TENT4A (P719L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176005	NM_006999.6(TENT4A):c.2162C>T (p.Ser721Leu)	TENT4A (S721L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176006	NM_006999.6(TENT4A):c.2194G>A (p.Gly732Ser)	TENT4A (G731S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535406	NM_006999.6(TENT4A):c.2224G>A (p.Gly742Ser)	TENT4A (G741S +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3176007	NM_006999.6(TENT4A):c.2236G>A (p.Gly746Ser)	TENT4A (G745S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176008	NM_006999.6(TENT4A):c.2242G>T (p.Gly748Cys)	TENT4A (G747C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176009	NM_006999.6(TENT4A):c.2246A>G (p.Tyr749Cys)	TENT4A (Y748C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470897	NM_006999.6(TENT4A):c.2324G>A (p.Arg775Lys)	TENT4A (R774K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176010	NM_006999.6(TENT4A):c.2375G>C (p.Arg792Thr)	TENT4A (R792T +1 more)	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 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 3062868	GRCh37/hg19 5p15.33-15.31(chr5:113576-7436985)x1	ADAMTS16, ADCY2 +35 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 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 2426351	NC_000005.9:g.(?_6600039)_(6845036_?)dup	NSUN2, SRD5A1 +1 more	Duplication	not provided	GUncertain significance
Select item 2426349	NC_000005.9:g.(?_6600039)_(6845036_?)del	NSUN2, SRD5A1 +1 more	Deletion	not provided	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 1707436	GRCh37/hg19 5p15.33-15.31(chr5:113576-8007018)x1	ADAMTS16, ADCY2 +38 more	Copy number loss	See cases	GPathogenic

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