4920[Gene ID] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC124210612, LOC124210613 +3786 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	LOC121331326, LOC121331327 +3785 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC126860737, LOC126860738 +3786 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	LOC110121197, LOC110121234 +3786 more	Copy number gain	See cases	GPathogenic
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC121331342, LOC121331343 +3786 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	LOC113839542, LOC113839543 +3786 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	LOC130002189, LOC130002190 +3786 more	Copy number gain	See cases	GPathogenic
Select item 147624	GRCh38/hg38 9q21.11-31.2(chr9:68420430-106579493)x3	ABCA1, ABHD17B +1072 more	Copy number gain	See cases	GPathogenic
Select item 151006	GRCh38/hg38 9q21.12-31.3(chr9:69627642-111454304)x3	ABCA1, ABHD17B +1188 more	Copy number gain	See cases	GPathogenic
Select item 148528	GRCh38/hg38 9q21.33-22.31(chr9:86079851-91827221)x1	AUH, C9orf153 +214 more	Copy number loss	See cases	GPathogenic
Select item 59881	GRCh38/hg38 9q22.1-32(chr9:88522292-113687796)x3	LOC130002218, LOC130002219 +994 more	Copy number gain	See cases	GPathogenic
Select item 59118	GRCh38/hg38 9q22.31-22.33(chr9:91596533-97018746)x1	AOPEP, ASPN +268 more	Copy number loss	See cases	GPathogenic
Select item 59119	GRCh38/hg38 9q22.31(chr9:91611565-91870931)x1	LOC124310584, LOC130002062 +4 more	Copy number loss	See cases	GPathogenic
Select item 367479	NM_004560.4(ROR2):c.*1016T>G	ROR2	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign
Select item 367480	NM_004560.4(ROR2):c.*927C>T	ROR2	Single nucleotide variant (3 prime UTR variant)	Brachydactyly type B1 +1 more	GBenign/Likely benign
Select item 367481	NM_004560.4(ROR2):c.*886G>T	ROR2	Single nucleotide variant (3 prime UTR variant)	Brachydactyly type B1 +1 more	GBenign
Select item 367482	NM_004560.4(ROR2):c.*766T>C	ROR2	Single nucleotide variant (3 prime UTR variant)	Brachydactyly +1 more	GLikely benign
Select item 367483	NM_004560.4(ROR2):c.*736A>G	ROR2	Single nucleotide variant (3 prime UTR variant)	Brachydactyly type B1 +2 more	GBenign/Likely benign
Select item 367484	NM_004560.4(ROR2):c.*712C>T	ROR2	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive Robinow syndrome +2 more	GBenign
Select item 367485	NM_004560.4(ROR2):c.*682C>G	ROR2	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive Robinow syndrome +1 more	GUncertain significance
Select item 914694	NM_004560.4(ROR2):c.*571G>C	ROR2	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive Robinow syndrome +1 more	GUncertain significance
Select item 367486	NM_004560.4(ROR2):c.*558C>T	ROR2	Single nucleotide variant (3 prime UTR variant)	Brachydactyly type B1 +1 more	GUncertain significance
Select item 914695	NM_004560.4(ROR2):c.*553G>A	ROR2	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive Robinow syndrome +1 more	GUncertain significance
Select item 367487	NM_004560.4(ROR2):c.*521G>A	ROR2	Single nucleotide variant (3 prime UTR variant)	Brachydactyly type B1 +1 more	GBenign/Likely benign
Select item 367488	NM_004560.4(ROR2):c.*520C>T	ROR2	Single nucleotide variant (3 prime UTR variant)	Brachydactyly type B1 +1 more	GConflicting classifications of pathogenicity
Select item 367489	NM_004560.4(ROR2):c.*487C>G	ROR2	Single nucleotide variant (3 prime UTR variant)	Brachydactyly type B1 +1 more	GUncertain significance
Select item 976640	NM_004560.4(ROR2):c.*433C>T	ROR2	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive Robinow syndrome +1 more	GUncertain significance
Select item 913098	NM_004560.4(ROR2):c.*398G>C	ROR2	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive Robinow syndrome +1 more	GUncertain significance
Select item 913099	NM_004560.4(ROR2):c.*369G>C	ROR2	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive Robinow syndrome +1 more	GUncertain significance
Select item 367490	NM_004560.4(ROR2):c.*245A>G	ROR2	Single nucleotide variant (3 prime UTR variant)	Brachydactyly type B1 +2 more	GBenign/Likely benign
Select item 3340920	NM_004560.4(ROR2):c.*236G>A	ROR2	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 367491	NM_004560.4(ROR2):c.*229C>T	ROR2	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign/Likely benign
Select item 367492	NM_004560.4(ROR2):c.*180C>A	ROR2	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive Robinow syndrome +1 more	GUncertain significance
Select item 367493	NM_004560.4(ROR2):c.*170AG[1]	ROR2	Microsatellite (3 prime UTR variant)	Autosomal dominant Robinow syndrome 1 +2 more	GBenign
Select item 367494	NM_004560.4(ROR2):c.*135G>T	ROR2	Single nucleotide variant (3 prime UTR variant)	Brachydactyly type B1 +1 more	GUncertain significance
Select item 914247	NM_004560.4(ROR2):c.*125C>A	ROR2	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive Robinow syndrome +1 more	GUncertain significance
Select item 914248	NM_004560.4(ROR2):c.*107G>C	ROR2	Single nucleotide variant (3 prime UTR variant)	Brachydactyly type B1 +1 more	GUncertain significance
Select item 914737	NM_004560.4(ROR2):c.*106C>T	ROR2	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive Robinow syndrome +1 more	GConflicting classifications of pathogenicity
Select item 914738	NM_004560.4(ROR2):c.*46C>T	ROR2	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive Robinow syndrome +1 more	GUncertain significance
Select item 914739	NM_004560.4(ROR2):c.*38G>A	ROR2	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive Robinow syndrome +1 more	GUncertain significance
Select item 199097	NM_004560.4(ROR2):c.*16G>A	ROR2	Single nucleotide variant (3 prime UTR variant)	not provided +3 more	GBenign
Select item 1477913	NM_004560.4(ROR2):c.2828C>A (p.Ala943Asp)	ROR2 (A943D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1014903	NM_004560.4(ROR2):c.2820G>C (p.Gln940His)	ROR2 (Q940H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2980365	NM_004560.4(ROR2):c.2806G>A (p.Glu936Lys)	ROR2 (E936K)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 159819	NM_004560.4(ROR2):c.2805C>G (p.Asp935Glu)	ROR2 (D935E)	Single nucleotide variant (missense variant)	Brachydactyly type B1 +3 more	GConflicting classifications of pathogenicity
Select item 2176990	NM_004560.4(ROR2):c.2794_2795del (p.Leu932fs)	ROR2 (L932fs)	Microsatellite (frameshift variant)	not provided	GUncertain significance
Select item 2787939	NM_004560.4(ROR2):c.2789A>T (p.Asp930Val)	ROR2 (D930V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3155734	NM_004560.4(ROR2):c.2785T>C (p.Cys929Arg)	ROR2 (C929R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1503564	NM_004560.4(ROR2):c.2782G>C (p.Asp928His)	ROR2 (D928H)	Single nucleotide variant (missense variant)	Autosomal recessive Robinow syndrome +3 more	GUncertain significance
Select item 912788	NM_004560.4(ROR2):c.2782G>A (p.Asp928Asn)	ROR2 (D928N)	Single nucleotide variant (missense variant)	Autosomal recessive Robinow syndrome +1 more	GUncertain significance
Select item 1413397	NM_004560.4(ROR2):c.2770G>C (p.Glu924Gln)	ROR2 (E924Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 727066	NM_004560.4(ROR2):c.2757T>C (p.Ser919=)	ROR2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2957649	NM_004560.4(ROR2):c.2747A>C (p.Glu916Ala)	ROR2 (E916A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2984464	NM_004560.4(ROR2):c.2731G>A (p.Glu911Lys)	ROR2 (E911K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2636401	NM_004560.4(ROR2):c.2729A>G (p.Gln910Arg)	ROR2 (Q910R)	Single nucleotide variant (missense variant)	ROR2-related disorder	GUncertain significance
Select item 287691	NM_004560.4(ROR2):c.2727G>A (p.Val909=)	ROR2	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
Select item 1443599	NM_004560.4(ROR2):c.2725G>A (p.Val909Met)	ROR2 (V909M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1354635	NM_004560.4(ROR2):c.2725G>C (p.Val909Leu)	ROR2 (V909L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1541154	NM_004560.4(ROR2):c.2724C>T (p.Thr908=)	ROR2	Single nucleotide variant (synonymous variant)	Brachydactyly type B1 +2 more	GLikely benign
Select item 1364970	NM_004560.4(ROR2):c.2713G>C (p.Ala905Pro)	ROR2 (A905P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1949661	NM_004560.4(ROR2):c.2709T>C (p.Asp903=)	ROR2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1148887	NM_004560.4(ROR2):c.2698G>A (p.Ala900Thr)	ROR2 (A900T)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 1610228	NM_004560.4(ROR2):c.2694G>C (p.Gln898His)	ROR2 (Q898H)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2868977	NM_004560.4(ROR2):c.2693A>G (p.Gln898Arg)	ROR2 (Q898R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 287327	NM_004560.4(ROR2):c.2684A>G (p.Asp895Gly)	ROR2 (D895G)	Single nucleotide variant (missense variant)	Autosomal recessive Robinow syndrome +2 more	GConflicting classifications of pathogenicity
Select item 747534	NM_004560.4(ROR2):c.2682T>G (p.Ala894=)	ROR2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 367495	NM_004560.4(ROR2):c.2649G>A (p.Met883Ile)	ROR2 (M883I)	Single nucleotide variant (missense variant)	Autosomal recessive Robinow syndrome +2 more	GConflicting classifications of pathogenicity
Select item 2427823	NM_004560.4(ROR2):c.2645C>G (p.Ser882Cys)	ROR2 (S882C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2261739	NM_004560.4(ROR2):c.2633C>A (p.Pro878His)	ROR2 (P878H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2636869	NM_004560.4(ROR2):c.2632C>G (p.Pro878Ala)	ROR2 (P878A)	Single nucleotide variant (missense variant)	ROR2-related disorder	GUncertain significance
Select item 498877	NM_004560.4(ROR2):c.2628G>A (p.Thr876=)	ROR2	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 3010010	NM_004560.4(ROR2):c.2627C>T (p.Thr876Met)	ROR2 (T876M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 997999	NM_004560.4(ROR2):c.2625dup (p.Thr876fs)	ROR2 (T876fs)	Duplication (frameshift variant)	Brachydactyly type B1 +1 more	GConflicting classifications of pathogenicity
Select item 718335	NM_004560.4(ROR2):c.2620G>A (p.Val874Ile)	ROR2 (V874I)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 722115	NM_004560.4(ROR2):c.2613A>C (p.Thr871=)	ROR2	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 1595374	NM_004560.4(ROR2):c.2604C>T (p.Ser868=)	ROR2	Single nucleotide variant (synonymous variant)	Autosomal recessive Robinow syndrome +2 more	GLikely benign
Select item 2748877	NM_004560.4(ROR2):c.2597G>C (p.Ser866Thr)	ROR2 (S866T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 798673	NM_004560.4(ROR2):c.2586C>T (p.His862=)	ROR2	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 597781	NM_004560.4(ROR2):c.2582C>T (p.Ser861Leu)	ROR2 (S861L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1388874	NM_004560.4(ROR2):c.2555CTC[1] (p.Pro853del)	ROR2 (P853del)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 3017944	NM_004560.4(ROR2):c.2556T>G (p.Pro852=)	ROR2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 841827	NM_004560.4(ROR2):c.2550G>C (p.Gln850His)	ROR2 (Q850H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2753584	NM_004560.4(ROR2):c.2549A>T (p.Gln850Leu)	ROR2 (Q850L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2895851	NM_004560.4(ROR2):c.2544G>A (p.Pro848=)	ROR2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1402795	NM_004560.4(ROR2):c.2523G>C (p.Gln841His)	ROR2 (Q841H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1372272	NM_004560.4(ROR2):c.2521C>G (p.Gln841Glu)	ROR2 (Q841E)	Single nucleotide variant (missense variant)	Brachydactyly type B1 +3 more	GUncertain significance
Select item 2909808	NM_004560.4(ROR2):c.2517G>A (p.Pro839=)	ROR2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1390956	NM_004560.4(ROR2):c.2443_2517del (p.Pro815_Pro839del)	ROR2	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 593001	NM_004560.4(ROR2):c.2517G>C (p.Pro839=)	ROR2	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 289268	NM_004560.4(ROR2):c.2489A>G (p.Tyr830Cys)	ROR2 (Y830C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1935247	NM_004560.4(ROR2):c.2485G>A (p.Ala829Thr)	ROR2 (A829T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2081514	NM_004560.4(ROR2):c.2484G>A (p.Pro828=)	ROR2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2748297	NM_004560.4(ROR2):c.2479G>T (p.Val827Leu)	ROR2 (V827L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1636711	NM_004560.4(ROR2):c.2478G>A (p.Pro826=)	ROR2	Single nucleotide variant (synonymous variant)	Brachydactyly type B1 +2 more	GLikely benign
Select item 2982581	NM_004560.4(ROR2):c.2477C>A (p.Pro826Gln)	ROR2 (P826Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2401642	NM_004560.4(ROR2):c.2467G>C (p.Gly823Arg)	ROR2 (G823R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1470687	NM_004560.4(ROR2):c.2467G>A (p.Gly823Ser)	ROR2 (G823S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 289430	NM_004560.4(ROR2):c.2466C>T (p.Asn822=)	ROR2	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign

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