9180[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 146130	GRCh38/hg38 5p15.33-11(chr5:49978-46114984)x3	ADAMTS12, ADAMTS16 +953 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 2683745	GRCh38/hg38 5p13.3-12(chr5:29299893-45899898)x3	AGXT2, LOC121725200 +385 more	Copy number gain	See cases	GLikely pathogenic
Select item 148227	GRCh38/hg38 5p13.2-q12.1(chr5:35201559-61903141)x3	LINC02057, LINC02101 +518 more	Copy number gain	See cases	GPathogenic
Select item 58092	GRCh38/hg38 5p13.2-12(chr5:35700480-45260029)x3	LOC126807367, LOC126807368 +254 more	Copy number gain	See cases	GPathogenic
Select item 58093	GRCh38/hg38 5p13.2-q11.1(chr5:36374107-51103841)x3	ANXA2R, ANXA2R-AS1 +245 more	Copy number gain	See cases	GPathogenic
Select item 58094	GRCh38/hg38 5p13.2-13.1(chr5:37016043-39383281)x3	C9, CPLANE1 +66 more	Copy number gain	See cases	GPathogenic
Select item 2304489	NM_003999.3(OSMR):c.4G>T (p.Ala2Ser)	OSMR (A2S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2493580	NM_003999.3(OSMR):c.28A>G (p.Thr10Ala)	OSMR (T10A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2493180	NM_003999.3(OSMR):c.79G>A (p.Ala27Thr)	OSMR (A27T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2562077	NM_003999.3(OSMR):c.85C>T (p.Arg29Cys)	OSMR (R29C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2211003	NM_003999.3(OSMR):c.86G>A (p.Arg29His)	OSMR (R29H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 776041	NM_003999.3(OSMR):c.132G>A (p.Thr44=)	OSMR	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3207175	NM_003999.3(OSMR):c.134G>A (p.Arg45His)	OSMR (R45H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2353611	NM_003999.3(OSMR):c.160G>A (p.Val54Ile)	OSMR (V54I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1703279	NM_003999.3(OSMR):c.189_193delinsT (p.Leu63fs)	OSMR (L63fs)	Indel (frameshift variant)	not provided	GUncertain significance
Select item 2460380	NM_003999.3(OSMR):c.392A>G (p.Asn131Ser)	OSMR (N131S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3040586	NM_003999.3(OSMR):c.419-8dup	OSMR	Duplication (intron variant)	OSMR-related disorder	GLikely benign
Select item 720117	NM_003999.3(OSMR):c.419-4G>T	OSMR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2588617	NM_003999.3(OSMR):c.451G>A (p.Val151Ile)	OSMR (V151I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2353915	NM_003999.3(OSMR):c.461A>C (p.Lys154Thr)	OSMR (K154T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2241936	NM_003999.3(OSMR):c.494C>T (p.Thr165Ile)	OSMR (T165I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3207187	NM_003999.3(OSMR):c.500G>T (p.Cys167Phe)	OSMR (C167F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 717723	NM_003999.3(OSMR):c.505G>A (p.Val169Ile)	OSMR (V169I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GBenign/Likely benign
Select item 2611584	NM_003999.3(OSMR):c.511A>G (p.Arg171Gly)	OSMR (R171G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3038218	NM_003999.3(OSMR):c.561T>G (p.His187Gln)	OSMR (H187Q)	Single nucleotide variant (missense variant)	OSMR-related disorder	GBenign
Select item 787814	NM_003999.3(OSMR):c.604A>T (p.Ser202Cys)	OSMR (S202C)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2325178	NM_003999.3(OSMR):c.682G>C (p.Gly228Arg)	OSMR (G228R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2336588	NM_003999.3(OSMR):c.689T>C (p.Val230Ala)	OSMR (V230A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2516777	NM_003999.3(OSMR):c.704A>C (p.Lys235Thr)	OSMR (K235T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2281042	NM_003999.3(OSMR):c.755C>G (p.Thr252Ser)	OSMR (T252S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 723400	NM_003999.3(OSMR):c.903C>T (p.Asp301=)	OSMR	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2353916	NM_003999.3(OSMR):c.971T>G (p.Leu324Arg)	OSMR (L324R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3052239	NM_003999.3(OSMR):c.991+40G>A	OSMR	Single nucleotide variant (3 prime UTR variant +1 more)	OSMR-related disorder	GLikely benign
Select item 2552435	NM_003999.3(OSMR):c.1000A>T (p.Met334Leu)	OSMR (M334L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1308619	NM_003999.3(OSMR):c.1046C>A (p.Ala349Asp)	OSMR (A349D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 791577	NM_003999.3(OSMR):c.1090T>C (p.Tyr364His)	OSMR (Y364H)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3303615	NM_003999.3(OSMR):c.1158C>A (p.Asn386Lys)	OSMR (N386K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 776042	NM_003999.3(OSMR):c.1162G>A (p.Glu388Lys)	OSMR (E389K +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2537641	NM_003999.3(OSMR):c.1187C>G (p.Pro396Arg)	OSMR (P396R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3207172	NM_003999.3(OSMR):c.1201A>G (p.Met401Val)	OSMR (M402V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1308620	NM_003999.3(OSMR):c.1204G>C (p.Ala402Pro)	OSMR (A402P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3207173	NM_003999.3(OSMR):c.1213C>T (p.Arg405Trp)	OSMR (R406W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3207174	NM_003999.3(OSMR):c.1214G>T (p.Arg405Leu)	OSMR (R406L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 733346	NM_003999.3(OSMR):c.1214G>A (p.Arg405Gln)	OSMR (R406Q +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2607242	NM_003999.3(OSMR):c.1232A>G (p.His411Arg)	OSMR (H412R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2627129	NM_003999.3(OSMR):c.1286-3C>T	OSMR	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 3303618	NM_003999.3(OSMR):c.1306G>A (p.Val436Ile)	OSMR (V436I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 719321	NM_003999.3(OSMR):c.1307T>A (p.Val436Asp)	OSMR (V436D +1 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 3207176	NM_003999.3(OSMR):c.1409T>C (p.Val470Ala)	OSMR (V470A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2655437	NM_003999.3(OSMR):c.1494C>T (p.Asp498=)	OSMR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3042906	NM_003999.3(OSMR):c.1515C>T (p.Cys505=)	OSMR	Single nucleotide variant (synonymous variant)	OSMR-related disorder	GLikely benign
Select item 722560	NM_003999.3(OSMR):c.1516G>A (p.Val506Ile)	OSMR (V506I +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 734898	NM_003999.3(OSMR):c.1524C>T (p.Ala508=)	OSMR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2332356	NM_003999.3(OSMR):c.1525A>G (p.Asn509Asp)	OSMR (N510D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 802119	NM_003999.3(OSMR):c.1538G>A (p.Gly513Asp)	OSMR (G513D +1 more)	Single nucleotide variant (missense variant)	Amyloidosis, primary localized cutaneous, 1	GUncertain significance
Select item 2533726	NM_003999.3(OSMR):c.1547C>G (p.Pro516Arg)	OSMR (P517R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2351557	NM_003999.3(OSMR):c.1571C>G (p.Ala524Gly)	OSMR (A524G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3060097	NM_003999.3(OSMR):c.1579G>A (p.Glu527Lys)	OSMR (E528K +1 more)	Single nucleotide variant (missense variant)	OSMR-related disorder	GBenign
Select item 2509366	NM_003999.3(OSMR):c.1580A>C (p.Glu527Ala)	OSMR (E528A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3035225	NM_003999.3(OSMR):c.1585+155G>T	OSMR	Single nucleotide variant (synonymous variant +1 more)	OSMR-related disorder	GBenign
Select item 721819	NM_003999.3(OSMR):c.1591G>A (p.Val531Ile)	OSMR (V532I +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3207177	NM_003999.3(OSMR):c.1628T>G (p.Phe543Cys)	OSMR (F543C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3044932	NM_003999.3(OSMR):c.1707C>T (p.Leu569=)	OSMR	Single nucleotide variant (synonymous variant)	OSMR-related disorder	GLikely benign
Select item 3207178	NM_003999.3(OSMR):c.1708G>A (p.Gly570Ser)	OSMR (G570S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 748577	NM_003999.3(OSMR):c.1785T>C (p.Val595=)	OSMR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3383184	NM_003999.3(OSMR):c.1786C>T (p.Arg596Ter)	OSMR (R596* +1 more)	Single nucleotide variant (nonsense)	Amyloidosis, primary localized cutaneous, 1	GUncertain significance
Select item 3303614	NM_003999.3(OSMR):c.1841A>C (p.Glu614Ala)	OSMR (E614A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 7809	NM_003999.3(OSMR):c.1853G>C (p.Gly618Ala)	OSMR (G618A +1 more)	Single nucleotide variant (missense variant)	Amyloidosis, primary localized cutaneous, 1	GPathogenic
Select item 2655438	NM_003999.3(OSMR):c.1872T>C (p.Ala624=)	OSMR	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 733886	NM_003999.3(OSMR):c.1881C>A (p.Asp627Glu)	OSMR (D627E +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3207179	NM_003999.3(OSMR):c.1891G>A (p.Val631Met)	OSMR (V631M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3207180	NM_003999.3(OSMR):c.1924A>G (p.Thr642Ala)	OSMR (T642A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2573514	NM_003999.3(OSMR):c.1927C>G (p.Leu643Val)	OSMR (L643V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 30220	NM_003999.3(OSMR):c.1940A>T (p.Asp647Val)	OSMR (D647V +1 more)	Single nucleotide variant (missense variant)	Amyloidosis, primary localized cutaneous, 1	GPathogenic
Select item 1036905	NM_003999.3(OSMR):c.2020C>T (p.Arg674Ter)	OSMR (R674* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 3303616	NM_003999.3(OSMR):c.2036T>A (p.Val679Asp)	OSMR (V679D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2247373	NM_003999.3(OSMR):c.2071A>C (p.Ile691Leu)	OSMR (I691L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 7808	NM_003999.3(OSMR):c.2072T>C (p.Ile691Thr)	OSMR (I691T +1 more)	Single nucleotide variant (missense variant)	Amyloidosis, primary localized cutaneous, 1	GPathogenic
Select item 3303617	NM_003999.3(OSMR):c.2078A>G (p.Asn693Ser)	OSMR (N694S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 30221	NM_003999.3(OSMR):c.2081C>T (p.Pro694Leu)	OSMR (P694L +1 more)	Single nucleotide variant (missense variant)	Amyloidosis, primary localized cutaneous, 1 +1 more	GLikely pathogenic
Select item 30222	NM_003999.3(OSMR):c.2090A>C (p.Lys697Thr)	OSMR (K697T +1 more)	Single nucleotide variant (missense variant)	Amyloidosis, primary localized cutaneous, 1	GPathogenic
Select item 2597017	NM_003999.3(OSMR):c.2142C>G (p.Ile714Met)	OSMR (I715M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2471364	NM_003999.3(OSMR):c.2144C>G (p.Thr715Ser)	OSMR (T716S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 779884	NM_003999.3(OSMR):c.2196G>A (p.Thr732=)	OSMR	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3207181	NM_003999.3(OSMR):c.2201C>T (p.Pro734Leu)	OSMR (P734L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2529913	NM_003999.3(OSMR):c.2250C>G (p.Phe750Leu)	OSMR (F750L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 721570	NM_003999.3(OSMR):c.2304G>A (p.Glu768=)	OSMR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3207182	NM_003999.3(OSMR):c.2329C>T (p.Pro777Ser)	OSMR (P778S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 727722	NM_003999.3(OSMR):c.2399G>C (p.Ser800Thr)	OSMR (S800T +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2634333	NM_003999.3(OSMR):c.2420T>C (p.Ile807Thr)	OSMR (I807T +1 more)	Single nucleotide variant (missense variant)	OSMR-related disorder	GUncertain significance
Select item 2266144	NM_003999.3(OSMR):c.2515T>A (p.Tyr839Asn)	OSMR (Y840N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 763975	NM_003999.3(OSMR):c.2538T>A (p.Asn846Lys)	OSMR (N847K +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3207183	NM_003999.3(OSMR):c.2569G>A (p.Glu857Lys)	OSMR (E858K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2477243	NM_003999.3(OSMR):c.2596T>G (p.Ser866Ala)	OSMR (S866A +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3207184	NM_003999.3(OSMR):c.2615G>A (p.Gly872Asp)	OSMR (G873D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 800015	NM_003999.3(OSMR):c.2647A>G (p.Met883Val)	OSMR (M884V +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3207185	NM_003999.3(OSMR):c.2750A>G (p.Tyr917Cys)	OSMR (Y918C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2391325	NM_003999.3(OSMR):c.2753T>C (p.Val918Ala)	OSMR (V918A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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