ClinVar for Gene (Select 286262) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3383800	NM_001128228.3(TPRN):c.404_405delinsTT (p.Arg135Leu)	TPRN (R135L)	Indel (missense variant)	not provided	GUncertain significance
Select item 3379940	NM_001128228.3(TPRN):c.1649A>G (p.His550Arg)	TPRN (H550R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3378025	NM_001128228.3(TPRN):c.143T>C (p.Val48Ala)	LOC130003093, TPRN (V48A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3375549	NM_001128228.3(TPRN):c.976A>C (p.Asn326His)	TPRN (N326H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3370050	NM_001128228.3(TPRN):c.170G>T (p.Arg57Leu)	LOC130003093, TPRN (R57L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3361974	NM_001128228.3(TPRN):c.1850_1864del (p.Glu617_Glu621del)	TPRN	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 3343702	NM_001128228.3(TPRN):c.759G>A (p.Glu253=)	TPRN	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 3340645	NM_001128228.3(TPRN):c.476C>A (p.Pro159Gln)	TPRN (P159Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3328339	NM_001128228.3(TPRN):c.1580G>A (p.Arg527Gln)	TPRN (R527Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3328338	NM_001128228.3(TPRN):c.125C>T (p.Ala42Val)	LOC130003093, TPRN (A42V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3328337	NM_001128228.3(TPRN):c.1907G>A (p.Arg636Gln)	TPRN (R636Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3328335	NM_001128228.3(TPRN):c.950C>A (p.Ala317Asp)	TPRN (A317D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3328334	NM_001128228.3(TPRN):c.755T>G (p.Val252Gly)	TPRN (V252G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3328333	NM_001128228.3(TPRN):c.1852G>A (p.Glu618Lys)	TPRN (E618K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3252925	NM_001128228.3(TPRN):c.702T>A (p.Pro234=)	TPRN	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 3245294	NC_000009.11:g.(?_131678355)_(140095163_?)dup	HMCN2, IER5L +147 more	Duplication	not provided	GUncertain significance
Select item 3238725	GRCh38/hg38 9q34.3(chr9:135338745-138124196)	ABCA2, AGPAT2 +344 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238719	GRCh38/hg38 9q34.3(chr9:136993278-138200863)	LOC130003071, LOC130003072 +154 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 3238709	GRCh38/hg38 9q34.3(chr9:136684941-138124673)	ABCA2, AGPAT2 +227 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238708	GRCh38/hg38 9q34.3(chr9:135791488-138262981)	ABCA2, AGPAT2 +325 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 3238702	GRCh38/hg38 9q34.3(chr9:136869696-138172039)	ABCA2, ANAPC2 +176 more	Copy number loss	Kleefstra syndrome 1	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 3238700	GRCh38/hg38 9q34.3(chr9:136032451-138125938)	LOC130003044, LOC130003045 +309 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238697	GRCh38/hg38 9q34.3(chr9:135008333-138199729)	ABCA2, AGPAT2 +347 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 3238694	GRCh38/hg38 9q34.3(chr9:135204722-138394717)	EHMT1, ENTPD2 +347 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 3238689	GRCh38/hg38 9q34.3(chr9:134642187-138121999)	ABCA2, AGPAT2 +367 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238688	GRCh38/hg38 9q34.3(chr9:137106653-138394717)	ANAPC2, ARRDC1 +128 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 3238681	GRCh38/hg38 9q34.3(chr9:137552082-138394717)	ABCA2, ANAPC2 +168 more	Copy number loss	Kleefstra syndrome 1	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 3238672	GRCh38/hg38 9q34.3(chr9:137529711-138129711)	ABCA2, AJM1 +193 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 3238669	GRCh38/hg38 9q34.3(chr9:135954288-138125938)	LOC130003073, LOC130003074 +310 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 3238659	GRCh38/hg38 9q34.3(chr9:135182209-138129711)	UBAC1, ZMYND19 +346 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 3181633	NM_001128228.3(TPRN):c.685G>C (p.Glu229Gln)	TPRN (E229Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3181632	NM_001128228.3(TPRN):c.571G>A (p.Ala191Thr)	TPRN (A191T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3181631	NM_001128228.3(TPRN):c.535G>T (p.Ala179Ser)	TPRN (A179S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3181630	NM_001128228.3(TPRN):c.526C>A (p.Pro176Thr)	TPRN (P176T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3181629	NM_001128228.3(TPRN):c.425C>T (p.Pro142Leu)	TPRN (P142L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3181628	NM_001128228.3(TPRN):c.404G>C (p.Arg135Pro)	TPRN (R135P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3181627	NM_001128228.3(TPRN):c.346G>T (p.Ala116Ser)	LOC130003092, TPRN (A116S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3181625	NM_001128228.3(TPRN):c.265G>T (p.Val89Leu)	TPRN (V89L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 3181623	NM_001128228.3(TPRN):c.1973C>G (p.Ser658Cys)	TPRN (S658C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3181622	NM_001128228.3(TPRN):c.1940G>A (p.Ser647Asn)	TPRN (S647N)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3181620	NM_001128228.3(TPRN):c.1633C>T (p.Arg545Cys)	TPRN (R545C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3181619	NM_001128228.3(TPRN):c.1565G>A (p.Arg522Lys)	TPRN (R522K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3181618	NM_001128228.3(TPRN):c.1552A>T (p.Ser518Cys)	TPRN (S518C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3181617	NM_001128228.3(TPRN):c.1532C>T (p.Thr511Ile)	TPRN (T511I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3181616	NM_001128228.3(TPRN):c.1529G>A (p.Gly510Glu)	TPRN (G510E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3181615	NM_001128228.3(TPRN):c.1240C>A (p.Gln414Lys)	TPRN (Q414K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3181614	NM_001128228.3(TPRN):c.1189G>T (p.Gly397Trp)	TPRN (G397W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3075890	NM_001128228.3(TPRN):c.25del (p.Ser9fs)	LOC130003093, TPRN (S9fs)	Deletion (frameshift variant)	Rare genetic deafness	GLikely pathogenic
Select item 3075889	NM_001128228.3(TPRN):c.505_542del (p.Pro169fs)	TPRN (P169fs)	Deletion (frameshift variant)	Rare genetic deafness	GLikely pathogenic
Select item 3075856	NM_001128228.3(TPRN):c.440_444del (p.Arg147fs)	TPRN (R147fs)	Microsatellite (frameshift variant)	Rare genetic deafness	GLikely pathogenic
Select item 3069168	NM_001128228.3(TPRN):c.1525_1532del (p.Pro509fs)	TPRN (P509fs)	Deletion (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 79	GLikely pathogenic
Select item 3063071	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3	DMAC1, DMRT1 +769 more	Copy number gain	not specified	GPathogenic
Select item 3021424	NM_001128228.3(TPRN):c.588C>T (p.Phe196=)	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
Select item 2981437	NM_001128228.3(TPRN):c.1014G>A (p.Lys338=)	TPRN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2963747	NM_001128228.3(TPRN):c.258G>A (p.Val86=)	TPRN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2960593	NM_001128228.3(TPRN):c.99G>A (p.Leu33=)	LOC130003093, TPRN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2915764	NM_001128228.3(TPRN):c.15G>C (p.Gly5=)	LOC130003093, TPRN	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2891192	NM_001128228.3(TPRN):c.354C>A (p.Ile118=)	LOC130003092, TPRN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2890459	NM_001128228.3(TPRN):c.1818GGA[6] (p.Glu619_Glu621del)	TPRN	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 2888982	NM_001128228.3(TPRN):c.426G>T (p.Pro142=)	TPRN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2887962	NM_001128228.3(TPRN):c.1530G>A (p.Gly510=)	TPRN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2884638	NM_001128228.3(TPRN):c.1200C>T (p.Pro400=)	TPRN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2883580	NM_001128228.3(TPRN):c.288C>T (p.Ser96=)	TPRN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2872909	NM_001128228.3(TPRN):c.1026T>C (p.Ala342=)	TPRN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2842919	NM_001128228.3(TPRN):c.558G>C (p.Gly186=)	TPRN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2831654	NM_001128228.3(TPRN):c.789del (p.Ser264fs)	TPRN (S264fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2804476	NM_001128228.3(TPRN):c.1500C>T (p.Thr500=)	TPRN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2795074	NM_001128228.3(TPRN):c.1656C>T (p.Ile552=)	TPRN	Single nucleotide variant (synonymous 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 2790325	NM_001128228.3(TPRN):c.1966+15G>C	TPRN	Single nucleotide variant (intron 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 2752542	NM_001128228.3(TPRN):c.1272G>A (p.Pro424=)	TPRN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2723809	NM_001128228.3(TPRN):c.96G>T (p.Ala32=)	LOC130003093, TPRN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2722727	NM_001128228.3(TPRN):c.2061C>T (p.Pro687=)	TPRN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2722223	NM_001128228.3(TPRN):c.1503C>T (p.Phe501=)	TPRN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2699492	NM_001128228.3(TPRN):c.1257G>A (p.Pro419=)	TPRN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2684590	GRCh37/hg19 9q34.2-34.3(chr9:136988996-141020389)x3	ABCA2, AGPAT2 +95 more	Copy number gain	not provided	GPathogenic
Select item 2663038	NM_001128228.3(TPRN):c.1508T>G (p.Val503Gly)	TPRN (V503G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2659815	NM_001128228.3(TPRN):c.654C>T (p.Ala218=)	TPRN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2659814	NM_001128228.3(TPRN):c.1869C>G (p.Ser623=)	TPRN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2627632	NM_001128228.3(TPRN):c.301G>T (p.Glu101Ter)	LOC130003092, TMEM203 +1 more (E101*)	Single nucleotide variant (nonsense)	Autosomal recessive nonsyndromic hearing loss 79	GPathogenic
Select item 2613574	NM_001128228.3(TPRN):c.467G>A (p.Arg156His)	TPRN (R156H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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