286262[geneid] - 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	LOC130001537, LOC130001538 +3785 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	LOC130002976, LOC130002977 +3784 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC130001468, LOC130001469 +3785 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	DNAJB5, DNAJB5-DT +3785 more	Copy number gain	See cases	GPathogenic
Select item 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	LOC114827838, LOC116186936 +3785 more	Copy number gain	See cases	GPathogenic
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC124252641, LOC124252642 +3785 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	LOC114022701, LOC114022702 +3785 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	ABCA1, ABCA2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	LOC110120726, LOC110120727 +3785 more	Copy number gain	See cases	GPathogenic
Select item 145579	GRCh38/hg38 9q33.2-34.3(chr9:121073102-138179445)x3	LOC130002527, LOC130002528 +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 57353	GRCh38/hg38 9q33.2-34.3(chr9:122792658-138124532)x3	LOC130003109, LOC130003110 +1210 more	Copy number gain	See cases	GPathogenic
Select item 145575	GRCh38/hg38 9q34.11-34.3(chr9:129068560-138179445)x3	LOC130002885, LOC130002886 +789 more	Copy number gain	See cases	GPathogenic
Select item 144296	GRCh38/hg38 9q34.11-34.3(chr9:130513207-138124532)x3	ABCA2, ABL1 +656 more	Copy number gain	See cases	GPathogenic
Select item 154569	GRCh38/hg38 9q34.13-34.3(chr9:132386553-138059695)x3	LOC110121282, LOC111365185 +530 more	Copy number gain	See cases	GPathogenic
Select item 147626	GRCh38/hg38 9q34.13-34.3(chr9:132986903-138114463)x3	BRD3, BRD3OS +510 more	Copy number gain	See cases	GPathogenic
Select item 148759	GRCh38/hg38 9q34.2-34.3(chr9:133504071-138159073)x3	ABCA2, ADAMTSL2 +439 more	Copy number gain	See cases	GPathogenic
Select item 154888	GRCh38/hg38 9q34.2-34.3(chr9:133918071-138159073)x3	LOC130002964, LOC130002965 +417 more	Copy number gain	See cases	GPathogenic
Select item 151031	GRCh38/hg38 9q34.2-34.3(chr9:133996227-138124524)x3	ABCA2, AGPAT2 +405 more	Copy number gain	See cases	GPathogenic
Select item 59943	GRCh38/hg38 9q34.2-34.3(chr9:134174698-138138735)x3	LOC130003068, LOC130003069 +392 more	Copy number gain	See cases	GPathogenic
Select item 59136	GRCh38/hg38 9q34.2-34.3(chr9:134428674-138154922)x1	ABCA2, AGPAT2 +371 more	Copy number loss	See cases	GPathogenic
Select item 2203758	GRCh38/hg38 9q34.3(chr9:134962336-137240181)x1	LCN15, LCN6 +265 more	Copy number loss	See cases	GPathogenic
Select item 59137	GRCh38/hg38 9q34.3(chr9:135452016-137613738)x1	ABCA2, AGPAT2 +311 more	Copy number loss	See cases	GPathogenic
Select item 155327	GRCh38/hg38 9q34.3(chr9:135704780-138125937)x4	LOC130003113, LOC130003114 +324 more	Copy number gain	See cases	GLikely pathogenic
Select item 161082	GRCh38/hg38 9q34.3(chr9:136323974-138014606)x1	LOC130003070, LOC130003071 +283 more	Copy number loss	See cases	GPathogenic
Select item 57416	GRCh38/hg38 9q34.3(chr9:136323974-138124532)x1	ABCA2, AGPAT2 +284 more	Copy number loss	See cases	GPathogenic
Select item 34625	GRCh38/hg38 9q34.3(chr9:136323974-138014606)x1	ABCA2, AGPAT2 +283 more	Copy number loss	See cases	GPathogenic
Select item 154911	GRCh38/hg38 9q34.3(chr9:136877772-138124524)x1	ABCA2, ANAPC2 +176 more	Copy number loss	See cases	GPathogenic
Select item 59140	GRCh38/hg38 9q34.3(chr9:136926575-138114463)x1	ABCA2, ANAPC2 +166 more	Copy number loss	See cases	GPathogenic
Select item 154677	GRCh38/hg38 9q34.3(chr9:137092629-137270028)x3	ANAPC2, CIMIP2A +43 more	Copy number gain	See cases	GBenign
Select item 59090	GRCh38/hg38 9q34.3(chr9:137092629-137375788)x1	ANAPC2, CIMIP2A +60 more	Copy number loss	See cases	GUncertain significance
Select item 1695277	NM_001128228.3(TPRN):c.2127G>C (p.Leu709=)	TPRN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2609048	NM_001128228.3(TPRN):c.2126T>C (p.Leu709Pro)	TPRN (L709P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 682509	NM_001128228.3(TPRN):c.2115C>T (p.Ser705=)	TPRN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1195124	NM_001128228.3(TPRN):c.2111G>A (p.Arg704His)	TPRN (R704H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1695717	NM_001128228.3(TPRN):c.2110C>T (p.Arg704Cys)	TPRN (R704C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1667591	NM_001128228.3(TPRN):c.2106C>T (p.Asp702=)	TPRN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 229344	NM_001128228.3(TPRN):c.2083G>A (p.Ala695Thr)	TPRN (A695T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 666938	NM_001128228.3(TPRN):c.2074-5T>C	TPRN	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 2413789	NM_001128228.3(TPRN):c.2074-10T>A	TPRN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1567018	NM_001128228.3(TPRN):c.2074-18C>A	TPRN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1206635	NM_001128228.3(TPRN):c.2074-31A>G	TPRN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1199132	NM_001128228.3(TPRN):c.2073+22C>T	TPRN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1537463	NM_001128228.3(TPRN):c.2073+10G>C	TPRN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 505247	NM_001128228.3(TPRN):c.2073+10G>A	TPRN	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 283089	NM_001128228.3(TPRN):c.2073+9C>T	TPRN	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2455554	NM_001128228.3(TPRN):c.2062G>A (p.Val688Met)	TPRN (V688M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2722727	NM_001128228.3(TPRN):c.2061C>T (p.Pro687=)	TPRN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 165576	NM_001128228.3(TPRN):c.2057C>T (p.Pro686Leu)	TPRN (P686L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2034941	NM_001128228.3(TPRN):c.2054C>T (p.Pro685Leu)	TPRN (P685L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1913799	NM_001128228.3(TPRN):c.2040G>A (p.Pro680=)	TPRN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3181624	NM_001128228.3(TPRN):c.2039C>T (p.Pro680Leu)	TPRN (P680L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2071848	NM_001128228.3(TPRN):c.2033A>G (p.Gln678Arg)	TPRN (Q678R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1300291	NM_001128228.3(TPRN):c.2015_2026del (p.Gln672_Ala675del)	TPRN	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 1903706	NM_001128228.3(TPRN):c.2025G>A (p.Ala675=)	TPRN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2662583	NM_001128228.3(TPRN):c.2024C>G (p.Ala675Gly)	TPRN (A675G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1949015	NM_001128228.3(TPRN):c.2024C>T (p.Ala675Val)	TPRN (A675V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 228025	NM_001128228.3(TPRN):c.2023G>A (p.Ala675Thr)	TPRN (A675T)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 228024	NM_001128228.3(TPRN):c.1996G>A (p.Val666Met)	TPRN (V666M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 504685	NM_001128228.3(TPRN):c.1986G>A (p.Pro662=)	TPRN	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3181623	NM_001128228.3(TPRN):c.1973C>G (p.Ser658Cys)	TPRN (S658C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 515193	NM_001128228.3(TPRN):c.1967-8A>G	TPRN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2792574	NM_001128228.3(TPRN):c.1967-12C>T	TPRN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1262182	NM_001128228.3(TPRN):c.1967-26G>A	TPRN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2790325	NM_001128228.3(TPRN):c.1966+15G>C	TPRN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 513085	NM_001128228.3(TPRN):c.1966+6T>C	TPRN	Single nucleotide variant (intron variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 545899	NM_001128228.3(TPRN):c.1964dup (p.Gly656fs)	TPRN (G656fs)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 2132851	NM_001128228.3(TPRN):c.1958G>T (p.Gly653Val)	TPRN (G653V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2181540	NM_001128228.3(TPRN):c.1952C>T (p.Pro651Leu)	TPRN (P651L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2576840	NM_001128228.3(TPRN):c.1945C>T (p.Arg649Trp)	TPRN (R649W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 228023	NM_001128228.3(TPRN):c.1944T>G (p.Ser648=)	TPRN	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3181622	NM_001128228.3(TPRN):c.1940G>A (p.Ser647Asn)	TPRN (S647N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 440352	NM_001128228.3(TPRN):c.1936G>A (p.Glu646Lys)	TPRN (E646K)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 165577	NM_001128228.3(TPRN):c.1929G>A (p.Val643=)	TPRN	Single nucleotide variant (synonymous variant)	TPRN-related disorder +2 more	GBenign
Select item 2408996	NM_001128228.3(TPRN):c.1913C>T (p.Thr638Met)	TPRN (T638M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1477551	NM_001128228.3(TPRN):c.1906C>A (p.Arg636=)	TPRN	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 504686	NM_001128228.3(TPRN):c.1906C>T (p.Arg636Trp)	TPRN (R636W)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 810482	NM_001128228.3(TPRN):c.1870G>T (p.Gly624Cys)	TPRN (G624C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2659814	NM_001128228.3(TPRN):c.1869C>G (p.Ser623=)	TPRN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2267788	NM_001128228.3(TPRN):c.1867T>G (p.Ser623Ala)	TPRN (S623A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 498655	NM_001128228.3(TPRN):c.1845AGAGGA[3] (p.Glu620_Glu621dup)	TPRN	Microsatellite (inframe_insertion)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1315143	NM_001128228.3(TPRN):c.1845AGAGGA[1] (p.Glu620_Glu621del)	TPRN	Microsatellite (inframe_deletion)	not provided	GLikely benign
Select item 2572798	NM_001128228.3(TPRN):c.1849G>A (p.Glu617Lys)	TPRN (E617K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 165578	NM_001128228.3(TPRN):c.1845_1847del (p.Glu621del)	TPRN (E621del)	Deletion (inframe_deletion)	not specified	GBenign
Select item 2196640	NM_001128228.3(TPRN):c.1818GGA[15] (p.Glu621_Gly622insGluGluGluGluGluGlu)	TPRN	Microsatellite (inframe_insertion)	not provided +1 more	GUncertain significance
Select item 1693105	NM_001128228.3(TPRN):c.1818GGA[12] (p.Glu621_Gly622insGluGluGlu)	TPRN	Microsatellite (inframe_insertion)	not provided	GUncertain significance
Select item 228022	NM_001128228.3(TPRN):c.1818GGA[11] (p.Glu620_Glu621dup)	TPRN	Microsatellite (inframe_insertion)	not specified	GLikely benign
Select item 43961	NM_001128228.3(TPRN):c.1818GGA[10] (p.Glu621dup)	TPRN	Microsatellite (inframe_insertion)	not specified +1 more	GBenign
Select item 2890459	NM_001128228.3(TPRN):c.1818GGA[6] (p.Glu619_Glu621del)	TPRN	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 1409821	NM_001128228.3(TPRN):c.1818GGA[5] (p.Glu618_Glu621del)	TPRN	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 290826	NM_001128228.3(TPRN):c.1818GGA[4] (p.Glu617_Glu621del)	TPRN	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 179337	NM_001128228.3(TPRN):c.1818GGA[7] (p.Glu620_Glu621del)	TPRN	Microsatellite (inframe_deletion)	not specified +1 more	GBenign
Select item 165579	NM_001128228.3(TPRN):c.1818GGA[8] (p.Glu621del)	TPRN (E621del)	Microsatellite (inframe_deletion)	not provided +2 more	GBenign
Select item 2181437	NM_001128228.3(TPRN):c.1839G>A (p.Glu613=)	TPRN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2272345	NM_001128228.3(TPRN):c.1831G>A (p.Glu611Lys)	TPRN (E611K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1982850	NM_001128228.3(TPRN):c.1830G>A (p.Glu610=)	TPRN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1212563	NM_001128228.3(TPRN):c.1824_1827delinsA (p.Glu621del)	TPRN (E621del)	Indel (inframe_deletion)	not provided	GLikely benign
Select item 1645468	NM_001128228.3(TPRN):c.1824G>A (p.Glu608=)	TPRN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2769139	NM_001128228.3(TPRN):c.1797G>A (p.Gln599=)	TPRN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3017560	NM_001128228.3(TPRN):c.1764A>G (p.Thr588=)	TPRN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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