TPRN[gene] - 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 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 57353	GRCh38/hg38 9q33.2-34.3(chr9:122792658-138124532)x3	LOC130003132, LOC130003133 +1210 more	Copy number gain	See cases	GPathogenic
Select item 145575	GRCh38/hg38 9q34.11-34.3(chr9:129068560-138179445)x3	MED27, MIGA2 +789 more	Copy number gain	See cases	GPathogenic
Select item 144296	GRCh38/hg38 9q34.11-34.3(chr9:130513207-138124532)x3	LOC130003057, LOC130003058 +656 more	Copy number gain	See cases	GPathogenic
Select item 3238673	GRCh38/hg38 9q34.13-34.3(chr9:137552409-137879159)	LOC124375238, LOC124375239 +569 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238671	GRCh38/hg38 9q34.13-34.3(chr9:137552082-137728529)	GBGT1, GLT6D1 +552 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238668	GRCh38/hg38 9q34.13-34.3(chr9:137552409-138052113)	ABCA2, ABO +572 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238667	GRCh38/hg38 9q34.13-34.3(chr9:137552409-138059181)	LOC130002921, LOC130002922 +572 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238666	GRCh38/hg38 9q34.13-34.3(chr9:136926151-138059181)	LOC121366034, LOC121366035 +572 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238664	GRCh38/hg38 9q34.13-34.3(chr9:137590213-137817525)	SARDH, SEC16A +568 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238663	GRCh38/hg38 9q34.13-34.3(chr9:137590213-138052188)	ABCA2, ABO +572 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 154569	GRCh38/hg38 9q34.13-34.3(chr9:132386553-138059695)x3	LOC130003026, LOC130003027 +530 more	Copy number gain	See cases	GPathogenic
Select item 147626	GRCh38/hg38 9q34.13-34.3(chr9:132986903-138114463)x3	ABCA2, ABO +510 more	Copy number gain	See cases	GPathogenic
Select item 148759	GRCh38/hg38 9q34.2-34.3(chr9:133504071-138159073)x3	LOC129390118, LOC130002920 +439 more	Copy number gain	See cases	GPathogenic
Select item 154888	GRCh38/hg38 9q34.2-34.3(chr9:133918071-138159073)x3	INPP5E, KCNT1 +417 more	Copy number gain	See cases	GPathogenic
Select item 151031	GRCh38/hg38 9q34.2-34.3(chr9:133996227-138124524)x3	LOC130003077, LOC130003078 +405 more	Copy number gain	See cases	GPathogenic
Select item 59943	GRCh38/hg38 9q34.2-34.3(chr9:134174698-138138735)x3	ABCA2, AGPAT2 +392 more	Copy number gain	See cases	GPathogenic
Select item 3238701	GRCh38/hg38 9q34.2-34.3(chr9:134288333-138155727)	ABCA2, AGPAT2 +388 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 59136	GRCh38/hg38 9q34.2-34.3(chr9:134428674-138154922)x1	UAP1L1, UBAC1 +371 more	Copy number loss	See cases	GPathogenic
Select item 3238689	GRCh38/hg38 9q34.3(chr9:134642187-138121999)	ABCA2, AGPAT2 +367 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 2203758	GRCh38/hg38 9q34.3(chr9:134962336-137240181)x1	LOC124375251, LOC126860788 +265 more	Copy number loss	See cases	GPathogenic
Select item 3238697	GRCh38/hg38 9q34.3(chr9:135008333-138199729)	ABCA2, AGPAT2 +347 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238659	GRCh38/hg38 9q34.3(chr9:135182209-138129711)	UBAC1, ZMYND19 +346 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238707	GRCh38/hg38 9q34.3(chr9:135203306-138100471)	LOC130003123, LOC130003124 +345 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238694	GRCh38/hg38 9q34.3(chr9:135204722-138394717)	EHMT1, ENTPD2 +347 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238725	GRCh38/hg38 9q34.3(chr9:135338745-138124196)	ABCA2, AGPAT2 +344 more	Copy number loss	Kleefstra syndrome 1	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	QSOX2, RABL6 +324 more	Copy number gain	See cases	GLikely pathogenic
Select item 3238708	GRCh38/hg38 9q34.3(chr9:135791488-138262981)	ABCA2, AGPAT2 +325 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238669	GRCh38/hg38 9q34.3(chr9:135954288-138125938)	LOC130003073, LOC130003074 +310 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238658	GRCh38/hg38 9q34.3(chr9:135969078-138104469)	LOC126860801, LOC129390118 +309 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238700	GRCh38/hg38 9q34.3(chr9:136032451-138125938)	LOC130003044, LOC130003045 +309 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
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 3238709	GRCh38/hg38 9q34.3(chr9:136684941-138124673)	ABCA2, AGPAT2 +227 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238683	GRCh38/hg38 9q34.3(chr9:136806104-138394717)	LOC130003043, LOC130003044 +199 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238682	GRCh38/hg38 9q34.3(chr9:137569711-138129711)	ABCA2, AJM1 +193 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238690	GRCh38/hg38 9q34.3(chr9:136817307-138133487)	ABCA2, AJM1 +193 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238672	GRCh38/hg38 9q34.3(chr9:137529711-138129711)	ABCA2, AJM1 +193 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238702	GRCh38/hg38 9q34.3(chr9:136869696-138172039)	ABCA2, ANAPC2 +176 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 154911	GRCh38/hg38 9q34.3(chr9:136877772-138124524)x1	ABCA2, ANAPC2 +176 more	Copy number loss	See cases	GPathogenic
Select item 3238681	GRCh38/hg38 9q34.3(chr9:137552082-138394717)	ABCA2, ANAPC2 +168 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 59140	GRCh38/hg38 9q34.3(chr9:136926575-138114463)x1	ABCA2, ANAPC2 +166 more	Copy number loss	See cases	GPathogenic
Select item 3238719	GRCh38/hg38 9q34.3(chr9:136993278-138200863)	LOC130003071, LOC130003072 +154 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238695	GRCh38/hg38 9q34.3(chr9:137059436-137902321)	ANAPC2, ARRDC1 +136 more	Copy number loss	Kleefstra syndrome 1	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 3238688	GRCh38/hg38 9q34.3(chr9:137106653-138394717)	ANAPC2, ARRDC1 +128 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238717	GRCh38/hg38 9q34.3(chr9:137170000-138360000)	ANAPC2, ARRDC1 +114 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
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 provided +1 more	GConflicting classifications of pathogenicity
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 specified +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 +1 more	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 +1 more	GUncertain significance
Select item 228023	NM_001128228.3(TPRN):c.1944T>G (p.Ser648=)	TPRN	Single nucleotide variant (synonymous variant)	not specified	GLikely benign

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