ClinVar for Gene (Select 139105) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3260780	NM_153346.5(BEND2):c.1584G>T (p.Leu528Phe)	BEND2 (L528F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3260779	NM_153346.5(BEND2):c.2222C>T (p.Ser741Leu)	BEND2 (S741L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3260778	NM_153346.5(BEND2):c.34A>T (p.Ile12Phe)	BEND2 (I12F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3260776	NM_153346.5(BEND2):c.1882A>C (p.Met628Leu)	BEND2 (M537L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3260775	NM_153346.5(BEND2):c.1268C>T (p.Ala423Val)	BEND2 (A332V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3245767	NC_000023.10:g.(?_14027032)_(19854400_?)del	ASB9, BEND2 +35 more	Deletion	not provided	GPathogenic
Select item 3243867	NC_000023.10:g.(?_17393881)_(20284750_?)del	ADGRG2, BCLAF3 +15 more	Deletion	Coffin-Lowry syndrome +5 more	GPathogenic
Select item 3242589	GRCh38/hg38 Xp22.33-q28(chrX:2757837-156030895)x2	LOC130068417, LOC130068418 +2599 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 3133680	NM_153346.5(BEND2):c.838G>T (p.Ala280Ser)	BEND2 (A280S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133679	NM_153346.5(BEND2):c.610G>A (p.Glu204Lys)	BEND2 (E204K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133677	NM_153346.5(BEND2):c.410A>T (p.Asn137Ile)	BEND2 (N137I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133676	NM_153346.5(BEND2):c.2380G>A (p.Ala794Thr)	BEND2 (A794T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133674	NM_153346.5(BEND2):c.1996C>T (p.Pro666Ser)	BEND2 (P575S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133673	NM_153346.5(BEND2):c.1894A>T (p.Arg632Trp)	BEND2 (R541W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133672	NM_153346.5(BEND2):c.160C>T (p.Pro54Ser)	BEND2 (P54S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3133671	NM_153346.5(BEND2):c.1346A>T (p.Asn449Ile)	BEND2 (N449I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062511	GRCh37/hg19 Xp22.33-11.1(chrX:168546-58364114)	ACE2, ACOT9 +314 more	Copy number loss	not specified	GPathogenic
Select item 3062471	GRCh37/hg19 Xp22.33-11.21(chrX:168546-55653170)	ACE2, ACOT9 +305 more	Copy number loss	not specified	GPathogenic
Select item 3024649	GRCh37/hg19 Xp22.2-22.13(chrX:16582625-18323335)x0	BEND2, CTPS2 +9 more	Copy number loss	not provided	GPathogenic
Select item 2685736	GRCh37/hg19 Xp22.13(chrX:18207863-19188070)x2	ADGRG2, BEND2 +5 more	Copy number gain	not provided	GUncertain significance
Select item 2685727	GRCh37/hg19 Xp22.33-21.2(chrX:168547-30774453)x2	ACE2, ACOT9 +120 more	Copy number gain	not provided	GPathogenic
Select item 2685694	GRCh37/hg19 Xp22.13(chrX:18235875-18523090)x1	BEND2, CDKL5 +1 more	Copy number loss	not provided	GLikely pathogenic
Select item 2685690	GRCh37/hg19 Xp22.33-11.22(chrX:2696762-53113314)x1	HDAC6, RGN +275 more	Copy number loss	not provided	GPathogenic
Select item 2660098	NM_153346.5(BEND2):c.735T>C (p.Asn245=)	BEND2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2660097	NM_153346.5(BEND2):c.966A>C (p.Pro322=)	BEND2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2660096	NM_153346.5(BEND2):c.1101A>G (p.Thr367=)	BEND2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2660095	NM_153346.5(BEND2):c.2318A>G (p.Gln773Arg)	BEND2 (Q773R)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2609898	NM_153346.5(BEND2):c.1591A>T (p.Ser531Cys)	BEND2 (S531C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603464	NM_153346.5(BEND2):c.1763G>A (p.Arg588His)	BEND2 (R497H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2561876	NM_153346.5(BEND2):c.1607C>T (p.Pro536Leu)	BEND2 (P536L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556783	NM_153346.5(BEND2):c.2044A>G (p.Thr682Ala)	BEND2 (T682A +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2554992	NM_153346.5(BEND2):c.231G>A (p.Met77Ile)	BEND2 (M77I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550540	NM_153346.5(BEND2):c.1699T>A (p.Ser567Thr)	BEND2 (S567T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533524	NM_153346.5(BEND2):c.2384C>T (p.Thr795Ile)	BEND2 (T795I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522578	NM_153346.5(BEND2):c.2356G>A (p.Glu786Lys)	BEND2 (E786K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514416	NM_153346.5(BEND2):c.664G>A (p.Ala222Thr)	BEND2 (A222T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2510985	NM_153346.5(BEND2):c.1886G>C (p.Arg629Thr)	BEND2 (R538T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2506546	GRCh37/hg19 Xp22.33-q28(chrX:200855-155240074)	ABCB7, ABCD1 +818 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 2489352	NM_153346.5(BEND2):c.1294T>A (p.Leu432Ile)	BEND2 (L432I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474473	NM_153346.5(BEND2):c.1747A>G (p.Thr583Ala)	BEND2 (T492A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470599	NM_153346.5(BEND2):c.205G>C (p.Asp69His)	BEND2 (D69H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468412	NM_153346.5(BEND2):c.583C>T (p.His195Tyr)	BEND2 (H195Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2424642	NC_000023.10:g.(?_17393881)_(18665472_?)dup	BEND2, SCML2 +5 more	Duplication	Developmental and epileptic encephalopathy, 2 +1 more	GUncertain significance
Select item 2424639	NC_000023.10:g.(?_17393881)_(18525300_?)del	BEND2, CDKL5 +4 more	Deletion	Developmental and epileptic encephalopathy, 2 +1 more	GPathogenic
Select item 2395831	NM_153346.5(BEND2):c.554C>G (p.Ala185Gly)	BEND2 (A185G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385409	NM_153346.5(BEND2):c.1531C>T (p.Arg511Cys)	BEND2 (R511C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383090	NM_153346.5(BEND2):c.2269G>A (p.Gly757Ser)	BEND2 (G757S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2355054	NM_153346.5(BEND2):c.2333T>C (p.Val778Ala)	BEND2 (V778A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342778	NM_153346.5(BEND2):c.133G>T (p.Asp45Tyr)	BEND2 (D45Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337778	NM_153346.5(BEND2):c.1249G>C (p.Asp417His)	BEND2 (D326H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320932	NM_153346.5(BEND2):c.2012G>A (p.Arg671Gln)	BEND2 (R580Q +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2300432	NM_153346.5(BEND2):c.1762C>T (p.Arg588Cys)	BEND2 (R588C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298377	NM_153346.5(BEND2):c.1895G>A (p.Arg632Lys)	BEND2 (R541K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285276	NM_153346.5(BEND2):c.212A>G (p.His71Arg)	BEND2 (H71R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273349	NM_153346.5(BEND2):c.563C>A (p.Ser188Tyr)	BEND2 (S188Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267366	NM_153346.5(BEND2):c.1435C>T (p.Leu479Phe)	BEND2 (L479F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266715	NM_153346.5(BEND2):c.1081G>A (p.Val361Met)	BEND2 (V361M)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2249251	NM_153346.5(BEND2):c.2018C>T (p.Pro673Leu)	BEND2 (P582L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217158	NM_153346.5(BEND2):c.1217A>G (p.Tyr406Cys)	BEND2 (Y406C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808948	GRCh37/hg19 Xp22.13(chrX:17751088-18863732)x3	SCML1, BEND2 +6 more	Copy number gain	not provided	GUncertain significance
Select item 1707442	GRCh37/hg19 Xp22.2-q28(chrX:11522765-155233731)x1	ABCB7, ABCD1 +790 more	Copy number loss	See cases	GPathogenic
Select item 1704345	GRCh37/hg19 Xp22.33-q28(chrX:61545-155226048)x2	ABCB7, ABCD1 +818 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 1703583	GRCh37/hg19 Xp22.33-11.21(chrX:168546-57841304)	ACE2, ACOT9 +315 more	Copy number loss	Turner syndrome	GPathogenic
Select item 1703582	Single allele	ADGRG2, ACE2 +309 more	Complex	Turner syndrome	GPathogenic
Select item 1703581	GRCh37/hg19 Xp22.33-11.22(chrX:168546-52573789)	ACE2, ACOT9 +267 more	Copy number loss	Turner syndrome	GPathogenic
Select item 1703580	GRCh37/hg19 Xp22.33-q28(chrX:1-155270560)	ABCB7, ABCD1 +819 more	Copy number loss	Turner syndrome	GPathogenic
Select item 1703579	GRCh37/hg19 Xp22.33-q28(chrX:1-155270560)	AKAP14, CT47A11 +819 more	Copy number gain	Hypotonia +2 more	GPathogenic
Select item 1526766	GRCh37/hg19 Xp22.13(chrX:18129617-18217357)	BEND2	Copy number loss	not specified	GUncertain significance
Select item 1341233	GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1	RADX, RAI2 +818 more	Copy number loss	not provided	GPathogenic
Select item 1341223	GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3	GPM6B, KLHL15 +818 more	Copy number gain	not provided	GPathogenic
Select item 1340166	GRCh37/hg19 Xp22.13(chrX:17668096-18275579)x2	SCML2, BEND2 +3 more	Copy number gain	not provided	GUncertain significance
Select item 1180551	GRCh37/hg19 Xp22.33-q28(chrX:60000-155234966)x1	KLHL34, KLHL4 +818 more	Copy number loss	not provided	GPathogenic
Select item 1041824	NC_000023.10:g.(?_17393881)_(20284750_?)dup	ADGRG2, BCLAF3 +15 more	Duplication	Angelman syndrome-like +1 more	GUncertain significance
Select item 992647	GRCh37/hg19 Xp22.33-11.21(chrX:168546-56457794)x1	ACE2, ACOT9 +309 more	Copy number loss	not provided	GPathogenic
Select item 983193	GRCh37/hg19 Xp22.33-11.21(chrX:219609-55466476)x1	ACE2, ACOT9 +304 more	Copy number loss	See cases	GPathogenic
Select item 832827	NC_000023.10:g.(?_17393861)_(18671684_?)dup	BEND2, CDKL5 +5 more	Duplication	Developmental and epileptic encephalopathy, 2 +1 more	GUncertain significance
Select item 816622	GRCh37/hg19 Xp22.33-21.1(chrX:168546-34753512)x1	FANCB, ARSD-AS1 +125 more	Copy number loss	not provided	GPathogenic
Select item 816314	GRCh37/hg19 Xp22.2-22.12(chrX:16194993-20640014)x2	MAP3K15, SCML1 +21 more	Copy number gain	not provided	GPathogenic
Select item 816311	GRCh37/hg19 Xp22.2-22.13(chrX:15415636-18339030)x1	RAI2, AP1S2 +19 more	Copy number loss	not provided	GUncertain significance
Select item 816281	GRCh37/hg19 Xp22.33-22.12(chrX:1240318-20986848)x2	FAM9B, AMELX +82 more	Copy number gain	not provided	GPathogenic
Select item 816270	GRCh37/hg19 Xp22.33-11.21(chrX:539722-55509385)x1	ACE2, ACOT9 +305 more	Copy number loss	not provided	GPathogenic
Select item 816269	GRCh37/hg19 Xp22.33-22.11(chrX:537158-22883547)x1	TCEANC, CLTRN +90 more	Copy number loss	not provided	GPathogenic
Select item 788157	NM_153346.5(BEND2):c.586G>A (p.Glu196Lys)	BEND2 (E196K)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 786704	NM_153346.5(BEND2):c.594G>T (p.Gln198His)	BEND2 (Q198H)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 786703	NM_153346.5(BEND2):c.1739G>T (p.Gly580Val)	BEND2 (G489V +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 783907	NM_153346.5(BEND2):c.548G>T (p.Ser183Ile)	BEND2 (S183I)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 783906	NM_153346.5(BEND2):c.782T>G (p.Val261Gly)	BEND2 (V261G)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 783905	NM_153346.5(BEND2):c.2352G>A (p.Glu784=)	BEND2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 689077	GRCh37/hg19 Xp22.2-22.11(chrX:13962918-22148232)x2	ACE2, ADGRG2 +46 more	Copy number gain	not provided	GPathogenic
Select item 689075	GRCh37/hg19 Xp22.2-22.11(chrX:13962918-22148232)x2	ACE2, ADGRG2 +46 more	Copy number gain	not provided	GPathogenic
Select item 688883	GRCh37/hg19 Xp22.33-22.11(chrX:2190434-23795839)x3	ACE2, ACOT9 +94 more	Copy number gain	not provided	GPathogenic
Select item 688508	GRCh37/hg19 Xp22.13(chrX:17557444-19260546)x2	ADGRG2, BEND2 +8 more	Copy number gain	not provided	GUncertain significance
Select item 688137	GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1	ARHGAP36, ARHGAP4 +818 more	Copy number loss	not provided	GPathogenic
Select item 685809	GRCh37/hg19 Xp22.2-22.11(chrX:15330714-21915234)x2	ACE2, ADGRG2 +39 more	Copy number gain	not provided	GPathogenic
Select item 685565	GRCh37/hg19 Xp22.33-q11.1(chrX:168546-61877279)x1	RBBP7, RBM10 +316 more	Copy number loss	not provided	GPathogenic
Select item 685331	GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4	BEX1, BEX2 +818 more	Copy number gain	not provided	GPathogenic
Select item 684963	GRCh37/hg19 Xp22.33-11.4(chrX:168546-38054739)x1	ACE2, ACOT9 +139 more	Copy number loss	not provided	GPathogenic
Select item 638115	GRCh37/hg19 Xp22.33-11.22(chrX:60814-50519984)x1	ACE2, ACOT9 +257 more	Copy number loss	See cases	GPathogenic
Select item 635934	Single allele	SUPT20HL2, SYAP1 +177 more	Deletion	Neurodevelopmental disorder	GPathogenic
Select item 626291	Single allele	AKAP14, CCDC22 +733 more	Duplication	Syndromic X-linked intellectual disability Lubs type	GPathogenic

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