8209[HGNC] - 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 59124	GRCh38/hg38 9q33.2-33.3(chr9:120938041-123469664)x1	C5, C5-OT1 +99 more	Copy number loss	See cases	GPathogenic
Select item 145579	GRCh38/hg38 9q33.2-34.3(chr9:121073102-138179445)x3	ABCA2, ABL1 +1272 more	Copy number gain	See cases	GPathogenic
Select item 57324	GRCh38/hg38 9q33.2-34.3(chr9:121112395-138075224)x3	ABCA2, ABL1 +1268 more	Copy number gain	See cases	GPathogenic
Select item 3302572	NM_001004451.1(OR1J1):c.944G>C (p.Cys315Ser)	OR1J1, OR1J2 (C315S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284831	NM_001004451.1(OR1J1):c.928G>A (p.Ala310Thr)	OR1J1, OR1J2 (A310T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204903	NM_001004451.1(OR1J1):c.914T>C (p.Leu305Ser)	OR1J1, OR1J2 (L305S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601379	NM_001004451.1(OR1J1):c.820G>A (p.Ala274Thr)	OR1J1, OR1J2 (A274T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555578	NM_001004451.1(OR1J1):c.814A>G (p.Ile272Val)	OR1J1, OR1J2 (I272V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204901	NM_001004451.1(OR1J1):c.799A>C (p.Thr267Pro)	OR1J1, OR1J2 (T267P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2618794	NM_001004451.1(OR1J1):c.797A>G (p.Asn266Ser)	OR1J1, OR1J2 (N266S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3302574	NM_001004451.1(OR1J1):c.766A>G (p.Ile256Val)	OR1J1, OR1J2 (I256V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3302573	NM_001004451.1(OR1J1):c.742G>A (p.Val248Met)	OR1J1, OR1J2 (V248M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478650	NM_001004451.1(OR1J1):c.700A>C (p.Ile234Leu)	OR1J1, OR1J2 (I234L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607459	NM_001004451.1(OR1J1):c.638G>A (p.Cys213Tyr)	OR1J1, OR1J2 (C213Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204899	NM_001004451.1(OR1J1):c.573C>A (p.Asp191Glu)	OR1J1, OR1J2 (D191E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492321	NM_001004451.1(OR1J1):c.532T>C (p.Phe178Leu)	OR1J1, OR1J2 (F178L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598860	NM_001004451.1(OR1J1):c.497T>A (p.Leu166His)	OR1J1, OR1J2 (L166H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204898	NM_001004451.1(OR1J1):c.494A>G (p.Gln165Arg)	OR1J1, OR1J2 (Q165R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3204897	NM_001004451.1(OR1J1):c.406A>G (p.Met136Val)	OR1J1, OR1J2 (M136V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288827	NM_001004451.1(OR1J1):c.212T>A (p.Ile71Asn)	OR1J1, OR1J2 (I71N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3302575	NM_001004451.1(OR1J1):c.125A>T (p.Asn42Ile)	OR1J1, OR1J2 (N42I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486368	NM_001004451.1(OR1J1):c.89T>A (p.Leu30Gln)	OR1J1, OR1J2 (L30Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204902	NM_001004451.1(OR1J1):c.85G>A (p.Ala29Thr)	OR1J1, OR1J2 (A29T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347462	NM_001004451.1(OR1J1):c.64G>C (p.Glu22Gln)	OR1J1, OR1J2 (E22Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2227119	NM_001004451.1(OR1J1):c.57C>G (p.Ile19Met)	OR1J1, OR1J2 (I19M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289866	NM_001004451.1(OR1J1):c.41T>C (p.Leu14Pro)	OR1J1, OR1J2 (L14P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204896	NM_001004451.1(OR1J1):c.25G>A (p.Val9Met)	OR1J1, OR1J2 (V9M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535280	NM_054107.1(OR1J2):c.58C>T (p.Arg20Trp)	OR1J2 (R20W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470542	NM_054107.1(OR1J2):c.187C>G (p.Leu63Val)	OR1J2 (L63V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2659483	NM_054107.1(OR1J2):c.191G>T (p.Ser64Ile)	OR1J2 (S64I)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3204904	NM_054107.1(OR1J2):c.274A>G (p.Ile92Val)	OR1J2 (I92V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314271	NM_054107.1(OR1J2):c.313A>T (p.Ile105Leu)	OR1J2 (I105L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2659484	NM_054107.1(OR1J2):c.777C>T (p.Tyr259=)	OR1J2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2333961	NM_001004452.1(OR1J4):c.23G>C (p.Ser8Thr)	OR1J2, OR1J4 (S8T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204908	NM_001004452.1(OR1J4):c.44T>A (p.Leu15Gln)	OR1J2, OR1J4 (L15Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359103	NM_001004452.1(OR1J4):c.98G>A (p.Gly33Asp)	OR1J2, OR1J4 (G33D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3302580	NM_001004452.1(OR1J4):c.119T>G (p.Leu40Arg)	OR1J2, OR1J4 (L40R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258848	NM_001004452.1(OR1J4):c.149G>A (p.Arg50Gln)	OR1J2, OR1J4 (R50Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610315	NM_001004452.1(OR1J4):c.160C>A (p.His54Asn)	OR1J2, OR1J4 (H54N)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3204905	NM_001004452.1(OR1J4):c.170C>A (p.Thr57Asn)	OR1J2, OR1J4 (T57N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3302578	NM_001004452.1(OR1J4):c.211A>G (p.Ile71Val)	OR1J2, OR1J4 (I71V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2393689	NM_001004452.1(OR1J4):c.239A>G (p.Lys80Arg)	OR1J2, OR1J4 (K80R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606176	NM_001004452.1(OR1J4):c.298C>A (p.Gln100Lys)	OR1J2, OR1J4 (Q100K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204906	NM_001004452.1(OR1J4):c.304T>C (p.Tyr102His)	OR1J2, OR1J4 (Y102H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296056	NM_001004452.1(OR1J4):c.316T>A (p.Phe106Ile)	OR1J2, OR1J4 (F106I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601393	NM_001004452.1(OR1J4):c.352A>G (p.Met118Val)	OR1J2, OR1J4 (M118V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474019	NM_001004452.1(OR1J4):c.365G>A (p.Arg122Gln)	OR1J2, OR1J4 (R122Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204907	NM_001004452.1(OR1J4):c.392G>A (p.Arg131His)	OR1J2, OR1J4 (R131H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2406760	NM_001004452.1(OR1J4):c.401C>G (p.Thr134Ser)	OR1J2, OR1J4 (T134S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602314	NM_001004452.1(OR1J4):c.433G>A (p.Val145Ile)	OR1J2, OR1J4 (V145I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479133	NM_001004452.1(OR1J4):c.524C>G (p.Pro175Arg)	OR1J2, OR1J4 (P175R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3302579	NM_001004452.1(OR1J4):c.527A>G (p.His176Arg)	OR1J2, OR1J4 (H176R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337684	NM_001004452.1(OR1J4):c.548C>T (p.Ala183Val)	OR1J2, OR1J4 (A183V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385517	NM_001004452.1(OR1J4):c.557A>G (p.Lys186Arg)	OR1J2, OR1J4 (K186R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213814	NM_001004452.1(OR1J4):c.676C>T (p.Leu226Phe)	OR1J2, OR1J4 (L226F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3302576	NM_001004452.1(OR1J4):c.683C>T (p.Ala228Val)	OR1J2, OR1J4 (A228V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2320735	NM_001004452.1(OR1J4):c.761C>T (p.Thr254Ile)	OR1J2, OR1J4 (T254I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465155	NM_001004452.1(OR1J4):c.836C>T (p.Thr279Met)	OR1J2, OR1J4 (T279M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3302577	NM_001004452.1(OR1J4):c.926C>T (p.Thr309Ile)	OR1J2, OR1J4 (T309I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3302600	NM_012363.1(OR1N1):c.932C>T (p.Ser311Phe)	OR1J2, OR1N1 (S311F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225714	NM_012363.1(OR1N1):c.854C>T (p.Pro285Leu)	OR1J2, OR1N1 (P285L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 91977	NM_012363.1(OR1N1):c.853C>A (p.Pro285Thr)	OR1J2, OR1N1 (P285T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2605265	NM_012363.1(OR1N1):c.811G>T (p.Ala271Ser)	OR1J2, OR1N1 (A271S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334616	NM_012363.1(OR1N1):c.804G>T (p.Lys268Asn)	OR1J2, OR1N1 (K268N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242766	NM_012363.1(OR1N1):c.787A>G (p.Ile263Val)	OR1J2, OR1N1 (I263V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2539053	NM_012363.1(OR1N1):c.755C>T (p.Thr252Ile)	OR1J2, OR1N1 (T252I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204961	NM_012363.1(OR1N1):c.754A>C (p.Thr252Pro)	OR1J2, OR1N1 (T252P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294198	NM_012363.1(OR1N1):c.634A>G (p.Ile212Val)	OR1J2, OR1N1 (I212V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459683	NM_012363.1(OR1N1):c.610G>A (p.Val204Ile)	OR1J2, OR1N1 (V204I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204959	NM_012363.1(OR1N1):c.488G>A (p.Arg163Gln)	OR1J2, OR1N1 (R163Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210243	NM_012363.1(OR1N1):c.487C>T (p.Arg163Trp)	OR1J2, OR1N1 (R163W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2622059	NM_012363.1(OR1N1):c.442G>A (p.Val148Ile)	OR1J2, OR1N1 (V148I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481440	NM_012363.1(OR1N1):c.422T>C (p.Leu141Pro)	OR1J2, OR1N1 (L141P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304049	NM_012363.1(OR1N1):c.392C>T (p.Ser131Phe)	OR1J2, OR1N1 (S131F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535785	NM_012363.1(OR1N1):c.376C>T (p.His126Tyr)	OR1J2, OR1N1 (H126Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344235	NM_012363.1(OR1N1):c.333C>A (p.Phe111Leu)	OR1J2, OR1N1 (F111L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3302599	NM_012363.1(OR1N1):c.301T>G (p.Phe101Val)	OR1J2, OR1N1 (F101V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405881	NM_012363.1(OR1N1):c.290C>T (p.Thr97Met)	OR1J2, OR1N1 (T97M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311574	NM_012363.1(OR1N1):c.278C>T (p.Thr93Met)	OR1J2, OR1N1 (T93M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370669	NM_012363.1(OR1N1):c.215C>T (p.Thr72Met)	OR1J2, OR1N1 (T72M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336837	NM_012363.1(OR1N1):c.194C>A (p.Ser65Tyr)	OR1J2, OR1N1 (S65Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3302602	NM_012363.1(OR1N1):c.178T>G (p.Phe60Val)	OR1J2, OR1N1 (F60V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204962	NM_012363.1(OR1N1):c.92G>C (p.Cys31Ser)	OR1J2, OR1N1 (C31S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204960	NM_012363.1(OR1N1):c.70T>A (p.Ser24Thr)	OR1J2, OR1N1 (S24T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551688	NM_012363.1(OR1N1):c.55C>G (p.Pro19Ala)	OR1J2, OR1N1 (P19A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304455	NM_012363.1(OR1N1):c.50C>T (p.Ala17Val)	OR1J2, OR1N1 (A17V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3302601	NM_012363.1(OR1N1):c.40G>C (p.Gly14Arg)	OR1J2, OR1N1 (G14R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 152030	GRCh38/hg38 9q33.2(chr9:122546532-122607645)x1	OR1J2, OR1L8 +1 more	Copy number loss	See cases	GBenign
Select item 151940	GRCh38/hg38 9q33.2(chr9:122546532-122628235)x3	OR1B1, OR1J2 +3 more	Copy number gain	See cases	GBenign
Select item 2559818	NM_001004457.2(OR1N2):c.76G>A (p.Glu26Lys)	OR1J2, OR1L8 +1 more (E26K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250016	NM_001004457.2(OR1N2):c.169C>T (p.His57Tyr)	OR1J2, OR1L8 +1 more (H57Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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