ClinVar for Gene (Select 158506) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3263645	NM_152577.4(CBLL2):c.632C>T (p.Pro211Leu)	CBLL2, PTCHD1-AS (P211L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263644	NM_152577.4(CBLL2):c.343A>T (p.Ser115Cys)	CBLL2, PTCHD1-AS (S115C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263643	NM_152577.4(CBLL2):c.731A>G (p.Gln244Arg)	CBLL2, PTCHD1-AS (Q244R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263642	NM_152577.4(CBLL2):c.848C>T (p.Ala283Val)	CBLL2, PTCHD1-AS (A283V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263641	NM_152577.4(CBLL2):c.1004T>G (p.Met335Arg)	CBLL2, PTCHD1-AS (M335R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3242589	GRCh38/hg38 Xp22.33-q28(chrX:2757837-156030895)x2	LOC130068417, LOC130068418 +2599 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 3138012	NM_152577.4(CBLL2):c.875T>G (p.Val292Gly)	CBLL2, PTCHD1-AS (V292G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138011	NM_152577.4(CBLL2):c.809C>T (p.Ser270Leu)	CBLL2, PTCHD1-AS (S270L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138010	NM_152577.4(CBLL2):c.638C>A (p.Pro213Gln)	CBLL2, PTCHD1-AS (P213Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138009	NM_152577.4(CBLL2):c.587T>C (p.Met196Thr)	CBLL2, PTCHD1-AS (M196T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138008	NM_152577.4(CBLL2):c.577G>C (p.Val193Leu)	CBLL2, PTCHD1-AS (V193L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138007	NM_152577.4(CBLL2):c.349G>C (p.Val117Leu)	CBLL2, PTCHD1-AS (V117L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138006	NM_152577.4(CBLL2):c.322C>G (p.Arg108Gly)	CBLL2, PTCHD1-AS (R108G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138005	NM_152577.4(CBLL2):c.284G>A (p.Arg95His)	CBLL2, PTCHD1-AS (R95H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138004	NM_152577.4(CBLL2):c.1271G>C (p.Arg424Pro)	CBLL2, PTCHD1-AS (R424P)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3138003	NM_152577.4(CBLL2):c.1202C>T (p.Pro401Leu)	CBLL2, PTCHD1-AS (P401L)	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 3062467	GRCh37/hg19 Xp22.11(chrX:22222044-22975163)	CBLL2, PHEX	Copy number gain	not specified	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 2685690	GRCh37/hg19 Xp22.33-11.22(chrX:2696762-53113314)x1	HDAC6, RGN +275 more	Copy number loss	not provided	GPathogenic
Select item 2684971	GRCh37/hg19 Xp22.13-22.11(chrX:18411391-22528403)x3	ADGRG2, BCLAF3 +18 more	Copy number gain	not provided	GUncertain significance
Select item 2660160	NM_152577.4(CBLL2):c.929G>A (p.Arg310His)	CBLL2, PTCHD1-AS (R310H)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2610847	NM_152577.4(CBLL2):c.953C>T (p.Thr318Met)	CBLL2, PTCHD1-AS (T318M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2601344	NM_152577.4(CBLL2):c.728T>C (p.Ile243Thr)	CBLL2, PTCHD1-AS (I243T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597564	NM_152577.4(CBLL2):c.281C>T (p.Pro94Leu)	CBLL2, PTCHD1-AS (P94L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2568698	NM_152577.4(CBLL2):c.934C>G (p.Gln312Glu)	CBLL2, PTCHD1-AS (Q312E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512312	NM_152577.4(CBLL2):c.523G>T (p.Asp175Tyr)	CBLL2, PTCHD1-AS (D175Y)	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 2464576	NM_152577.4(CBLL2):c.828A>G (p.Ile276Met)	CBLL2, PTCHD1-AS (I276M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 1808149	GRCh37/hg19 Xp22.11(chrX:22017666-22717072)x2	CBLL2, PHEX	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 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 1340332	GRCh37/hg19 Xp22.12-22.11(chrX:20760624-22571267)x2	CBLL2, CNKSR2 +6 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 1062413	NC_000023.10:g.(?_22056587)_(22292386_?)dup	CBLL2, PHEX	Duplication	not provided	GUncertain significance
Select item 1013602	NC_000023.11:g.22243338_22690207del	CBLL2, LOC126863223 +5 more	Deletion	Familial X-linked hypophosphatemic vitamin D refractory rickets	GPathogenic
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 989452	NC_000023.11:g.22213388_22345581del	CBLL2, PHEX +1 more	Deletion	Familial X-linked hypophosphatemic vitamin D refractory rickets	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 980274	GRCh37/hg19 Xp22.11(chrX:22222044-22975163)x3	CBLL2, PHEX	Copy number gain	not provided	GUncertain significance
Select item 980273	GRCh37/hg19 Xp22.11(chrX:22222044-22975163)x2	CBLL2, PHEX	Copy number gain	not provided	GUncertain significance
Select item 980271	GRCh37/hg19 Xp22.11(chrX:22155363-22824441)x2	CBLL2, PHEX	Copy number gain	not provided	GUncertain significance
Select item 832361	NC_000023.11:g.(?_22245333)_(22274269_?)del	CBLL2, PHEX	Deletion	not provided	GPathogenic
Select item 831597	NC_000023.10:g.(?_22094506)_(22292386_?)del	CBLL2, PHEX	Deletion	not provided	GPathogenic
Select item 831244	NC_000023.10:g.(?_21990015)_(22292386_?)del	CBLL2, PHEX +1 more	Deletion	not provided	GPathogenic
Select item 830979	NC_000023.11:g.(?_22168312)_(22274269_?)del	CBLL2, PHEX	Deletion	not provided	GPathogenic
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 816320	GRCh37/hg19 Xp22.11(chrX:22266419-22929032)x0	PHEX, CBLL2	Copy number loss	not provided	GUncertain significance
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 788049	NM_152577.4(CBLL2):c.645A>C (p.Leu215=)	CBLL2, PTCHD1-AS	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 788048	NM_152577.4(CBLL2):c.539T>A (p.Ile180Asn)	CBLL2, PTCHD1-AS (I180N)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 780686	NM_152577.4(CBLL2):c.1167G>A (p.Arg389=)	CBLL2, PTCHD1-AS	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 715924	NM_152577.4(CBLL2):c.98T>A (p.Ile33Asn)	CBLL2, PTCHD1-AS (I33N)	Single nucleotide variant (missense variant)	not provided	GBenign
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 688137	GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1	ARHGAP36, ARHGAP4 +818 more	Copy number loss	not provided	GPathogenic
Select item 686970	GRCh37/hg19 Xp22.12-21.1(chrX:20925922-35511818)x1	ACOT9, APOO +42 more	Copy number loss	not provided	GPathogenic
Select item 686760	GRCh37/hg19 Xp22.11(chrX:22169781-22390857)x3	CBLL2, PHEX	Copy number gain	not provided	GUncertain significance
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
Select item 625794	GRCh37/hg19 Xp22.33-22.11(chrX:801301-23768392)	ACE2, ACOT9 +94 more	Copy number gain	not provided	GPathogenic
Select item 564800	GRCh37/hg19 Xp22.11(chrX:22181596-22404721)x3	PHEX, CBLL2	Copy number gain	not provided	GUncertain significance
Select item 564799	GRCh37/hg19 Xp22.11(chrX:22054493-22303438)x2	CBLL2, PHEX	Copy number gain	not provided	GUncertain significance
Select item 564772	GRCh37/hg19 Xp22.31-q21.31(chrX:7841947-90815333)x1,2	RPS6KA6, UPRT +413 more	Copy number gain	not provided	GPathogenic
Select item 564696	GRCh37/hg19 Xp22.33-11.23(chrX:168546-46908284)x1	ACE2, ACOT9 +170 more	Copy number loss	not provided	GPathogenic
Select item 564695	GRCh37/hg19 Xp22.33-11.3(chrX:168546-43248706)x1	ACE2, ACOT9 +154 more	Copy number loss	not provided	GPathogenic
Select item 564694	GRCh37/hg19 Xp22.33-22.11(chrX:168546-23785738)x1	PRDX4, ADGRG2 +94 more	Copy number loss	not provided	GPathogenic
Select item 545379	Single allele	ACE2, ACE2-DT +399 more	Duplication	Autism	GLikely pathogenic
Select item 488014	Single allele	ARSF, CFAP47 +2632 more	Duplication	Autism +1 more	GPathogenic
Select item 443974	GRCh37/hg19 Xp22.33-q28(chrX:168547-155233731)	ABCB7, ABCD1 +818 more	Copy number gain	See cases	GPathogenic
Select item 443946	GRCh37/hg19 Xp22.33-q23(chrX:168547-112474026)x1	EIF1AX, EIF2S3 +539 more	Copy number loss	See cases	GPathogenic
Select item 443634	GRCh37/hg19 Xp22.33-21.1(chrX:168546-35841052)x1	ACE2, ACOT9 +127 more	Copy number loss	See cases	GPathogenic
Select item 443322	GRCh37/hg19 Xp22.33-11.1(chrX:168546-58527164)x1	ACE2, ACOT9 +314 more	Copy number loss	See cases	GPathogenic
Select item 443028	GRCh37/hg19 Xp22.33-11.21(chrX:168546-54996659)x1	SYN1, SYP +294 more	Copy number loss	See cases	GPathogenic
Select item 442812	GRCh37/hg19 Xp22.33-22.11(chrX:168546-24780527)x3	ACE2, ACOT9 +105 more	Copy number gain	See cases	GPathogenic
Select item 442790	GRCh37/hg19 Xp22.33-21.1(chrX:168546-37515849)x1	ACE2, ACOT9 +131 more	Copy number loss	See cases	GPathogenic
Select item 442724	GRCh37/hg19 Xp22.33-q28(chrX:168547-151304063)x1	AP1S2, APEX2 +731 more	Copy number loss	See cases	GPathogenic
Select item 442354	GRCh37/hg19 Xp22.33-q13.3(chrX:168546-74549686)	ABCB7, ACE2 +390 more	Copy number loss	See cases	GPathogenic
Select item 442162	GRCh37/hg19 Xp22.33-11.21(chrX:168546-55240087)x1	AP1S2, APEX2 +300 more	Copy number loss	See cases	GPathogenic
Select item 442067	GRCh37/hg19 Xp22.33-11.21(chrX:168546-57504183)x1	ARSF, XAGE2 +312 more	Copy number loss	See cases	GPathogenic
Select item 442024	GRCh37/hg19 Xp22.2-21.2(chrX:15290524-29747172)x2	ACE2, ACOT9 +65 more	Copy number gain	See cases	GLikely pathogenic
Select item 441995	GRCh37/hg19 Xp22.33-21.2(chrX:168546-31085327)x1	ACE2, ACOT9 +121 more	Copy number loss	See cases	GPathogenic
Select item 441968	GRCh37/hg19 Xp22.33-11.21(chrX:168564-57413442)x1	AP1S2, APEX2 +312 more	Copy number loss	See cases	GPathogenic
Select item 441856	GRCh37/hg19 Xp22.33-11.21(chrX:168546-57683964)x1	WDR45, WNK3 +313 more	Copy number loss	See cases	GPathogenic
Select item 438562	NC_000023.10:g.22256748_22370988del114241	CBLL2, PHEX +1 more	Deletion	Familial X-linked hypophosphatemic vitamin D refractory rickets	GPathogenic
Select item 425520	GRCh37/hg19 Xp22.2-q25(chrX:11692290-121187337)x2	BEX4, BEX5 +566 more	Copy number gain	not provided	GUncertain significance
Select item 395718	GRCh37/hg19 Xp22.33-q28(chrX:70297-155246585)x1	TMLHE, TMSB15A +819 more	Copy number loss	See cases	GPathogenic
Select item 395687	GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792)	ABCB7, ABCD1 +819 more	Copy number loss	See cases	GPathogenic

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