"GeneDx"[submitter] AND "TPRN"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 59136	GRCh38/hg38 9q34.2-34.3(chr9:134428674-138154922)x1	UAP1L1, UBAC1 +371 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 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 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 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 1300291	NM_001128228.3(TPRN):c.2015_2026del (p.Gln672_Ala675del)	TPRN	Deletion (inframe_deletion)	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 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 515193	NM_001128228.3(TPRN):c.1967-8A>G	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 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 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 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 165577	NM_001128228.3(TPRN):c.1929G>A (p.Val643=)	TPRN	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 504686	NM_001128228.3(TPRN):c.1906C>T (p.Arg636Trp)	TPRN (R636W)	Single nucleotide variant (missense variant)	not specified +2 more	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 1693105	NM_001128228.3(TPRN):c.1818GGA[12] (p.Glu621_Gly622insGluGluGlu)	TPRN	Microsatellite (inframe_insertion)	not provided	GUncertain significance
Select item 43961	NM_001128228.3(TPRN):c.1818GGA[10] (p.Glu621dup)	TPRN	Microsatellite (inframe_insertion)	not specified +1 more	GBenign
Select item 179337	NM_001128228.3(TPRN):c.1818GGA[7] (p.Glu620_Glu621del)	TPRN	Microsatellite (inframe_deletion)	not provided +1 more	GBenign
Select item 165579	NM_001128228.3(TPRN):c.1818GGA[8] (p.Glu621del)	TPRN (E621del)	Microsatellite (inframe_deletion)	not specified +2 more	GBenign
Select item 1212563	NM_001128228.3(TPRN):c.1824_1827delinsA (p.Glu621del)	TPRN (E621del)	Indel (inframe_deletion)	not provided	GLikely benign
Select item 43960	NM_001128228.3(TPRN):c.1748A>G (p.Lys583Arg)	TPRN (K583R)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 1254705	NM_001128228.3(TPRN):c.1726-17G>A	TPRN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1182865	NM_001128228.3(TPRN):c.1726-44C>T	TPRN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1188244	NM_001128228.3(TPRN):c.1725+228G>A	TPRN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1247499	NM_001128228.3(TPRN):c.1725+151C>T	TPRN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 508636	NM_001128228.3(TPRN):c.1725+10G>C	TPRN	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 1199833	NM_001128228.3(TPRN):c.1725+5G>A	TPRN	Single nucleotide variant (intron variant)	Autosomal recessive nonsyndromic hearing loss 79 +1 more	GUncertain significance
Select item 218511	NM_001128228.3(TPRN):c.1712C>G (p.Ser571Cys)	TPRN (S571C)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2571800	NM_001128228.3(TPRN):c.1706C>T (p.Ala569Val)	TPRN (A569V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1254681	NM_001128228.3(TPRN):c.1669G>A (p.Gly557Ser)	TPRN (G557S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1700269	NM_001128228.3(TPRN):c.1634G>A (p.Arg545His)	TPRN (R545H)	Single nucleotide variant (missense variant)	not provided	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 668370	NM_001128228.3(TPRN):c.1573C>T (p.Arg525Trp)	TPRN (R525W)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1199133	NM_001128228.3(TPRN):c.1513C>T (p.Pro505Ser)	TPRN (P505S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
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 1708579	NM_001128228.3(TPRN):c.1486C>T (p.Arg496Trp)	TPRN (R496W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 286302	NM_001128228.3(TPRN):c.1468G>A (p.Val490Met)	TPRN (V490M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2580419	NM_001128228.3(TPRN):c.1417C>T (p.Pro473Ser)	TPRN (P473S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1431603	NM_001128228.3(TPRN):c.1386C>A (p.Asp462Glu)	TPRN (D462E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2446689	NM_001128228.3(TPRN):c.1377_1379del (p.Asp459del)	TPRN (D459del)	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 718496	NM_001128228.3(TPRN):c.1336C>T (p.Arg446Trp)	TPRN (R446W)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1712554	NM_001128228.3(TPRN):c.1320C>G (p.Gly440=)	TPRN	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1327345	NM_001128228.3(TPRN):c.1279T>G (p.Ser427Ala)	TPRN (S427A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1198483	NM_001128228.3(TPRN):c.1262C>G (p.Pro421Arg)	TPRN (P421R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 377178	NM_001128228.3(TPRN):c.1261C>T (p.Pro421Ser)	TPRN (P421S)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 2507270	NM_001128228.3(TPRN):c.1259C>G (p.Pro420Arg)	TPRN (P420R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1199046	NM_001128228.3(TPRN):c.1259C>T (p.Pro420Leu)	TPRN (P420L)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 672139	NM_001128228.3(TPRN):c.1256C>T (p.Pro419Leu)	TPRN (P419L)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1351195	NM_001128228.3(TPRN):c.1168G>T (p.Ala390Ser)	TPRN (A390S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1706721	NM_001128228.3(TPRN):c.1159G>C (p.Glu387Gln)	TPRN (E387Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1305467	NM_001128228.3(TPRN):c.1148A>G (p.Lys383Arg)	TPRN (K383R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 193180	NM_001128228.3(TPRN):c.1138G>T (p.Ala380Ser)	TPRN (A380S)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 1810607	NM_001128228.3(TPRN):c.1133C>G (p.Ala378Gly)	TPRN (A378G)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 618440	NM_001128228.3(TPRN):c.1094A>G (p.Gln365Arg)	TPRN (Q365R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 513463	NM_001128228.3(TPRN):c.1073T>C (p.Leu358Pro)	TPRN (L358P)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 79 +2 more	GBenign
Select item 1305289	NM_001128228.3(TPRN):c.1010G>A (p.Ser337Asn)	TPRN (S337N)	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 774888	NM_001128228.3(TPRN):c.969C>T (p.Leu323=)	TPRN	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1806299	NM_001128228.3(TPRN):c.943dup (p.Leu315fs)	TPRN (L315fs)	Duplication (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 79 +1 more	GPathogenic
Select item 498533	NM_001128228.3(TPRN):c.894G>A (p.Glu298=)	TPRN	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 1193791	NM_001128228.3(TPRN):c.891C>T (p.Phe297=)	TPRN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 513462	NM_001128228.3(TPRN):c.891C>G (p.Phe297Leu)	TPRN (F297L)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2505053	NM_001128228.3(TPRN):c.863C>A (p.Ser288Tyr)	TPRN (S288Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 193179	NM_001128228.3(TPRN):c.858C>T (p.Cys286=)	TPRN	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 2430775	NM_001128228.3(TPRN):c.839C>G (p.Thr280Ser)	TPRN (T280S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1802024	NM_001128228.3(TPRN):c.827C>T (p.Pro276Leu)	TPRN (P276L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 676782	NM_001128228.3(TPRN):c.813T>C (p.Thr271=)	TPRN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1478433	NM_001128228.3(TPRN):c.770C>T (p.Pro257Leu)	TPRN (P257L)	Single nucleotide variant (missense variant)	not provided +2 more	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 1214455	NM_001128228.3(TPRN):c.740A>G (p.Gln247Arg)	TPRN (Q247R)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3252925	NM_001128228.3(TPRN):c.702T>A (p.Pro234=)	TPRN	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 288938	NM_001128228.3(TPRN):c.691C>T (p.Arg231Trp)	TPRN (R231W)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 682347	NM_001128228.3(TPRN):c.690C>G (p.Pro230=)	TPRN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1214990	NM_001128228.3(TPRN):c.669C>T (p.Asn223=)	TPRN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1199465	NM_001128228.3(TPRN):c.663C>A (p.Leu221=)	TPRN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 281979	NM_001128228.3(TPRN):c.655C>A (p.Arg219Ser)	TPRN (R219S)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 1186098	NM_001128228.3(TPRN):c.617C>T (p.Thr206Ile)	TPRN (T206I)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 508147	NM_001128228.3(TPRN):c.609C>T (p.Asn203=)	TPRN	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1711930	NM_001128228.3(TPRN):c.586T>C (p.Phe196Leu)	TPRN (F196L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1396937	NM_001128228.3(TPRN):c.563G>T (p.Ser188Ile)	TPRN (S188I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 193181	NM_001128228.3(TPRN):c.559G>T (p.Ala187Ser)	TPRN (A187S)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 79 +2 more	GBenign
Select item 1256787	NM_001128228.3(TPRN):c.533C>T (p.Ala178Val)	TPRN (A178V)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1301457	NM_001128228.3(TPRN):c.474GCC[7] (p.Pro164dup)	TPRN	Microsatellite (inframe_insertion)	not provided	GUncertain significance
Select item 1187821	NM_001128228.3(TPRN):c.474GCC[3] (p.Pro162_Pro164del)	TPRN	Microsatellite (inframe_deletion)	not provided	GConflicting classifications of pathogenicity
Select item 1202908	NM_001128228.3(TPRN):c.483G>A (p.Pro161=)	TPRN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1878792	NM_001128228.3(TPRN):c.482C>T (p.Pro161Leu)	TPRN (P161L)	Single nucleotide variant (missense 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 430108	NM_001128228.3(TPRN):c.470C>G (p.Pro157Arg)	TPRN (P157R)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1190568	NM_001128228.3(TPRN):c.374T>C (p.Val125Ala)	TPRN (V125A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2502630	NM_001128228.3(TPRN):c.361G>A (p.Ala121Thr)	LOC130003092, TPRN (A121T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1187226	NM_001128228.3(TPRN):c.335C>T (p.Ala112Val)	LOC130003092, TPRN (A112V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1327307	NM_001128228.3(TPRN):c.329C>T (p.Pro110Leu)	LOC130003092, TPRN (P110L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance

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