TJP2[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 781

<< First< Prev

Page of 8

	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 154945	GRCh38/hg38 9p24.3-q21.31(chr9:193412-79877816)x3	CDKN2B, CDKN2B-AS1 +1214 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 146931	GRCh38/hg38 9p24.3-q21.12(chr9:193412-70630731)x3	LOC130001680, LOC130001681 +1062 more	Copy number gain	See cases	GPathogenic
Select item 146703	GRCh38/hg38 9p24.3-q21.13(chr9:193412-74615913)x3	LOC124210611, LOC124210612 +1120 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 153561	GRCh38/hg38 9p24.3-q22.1(chr9:203861-88130444)x4	LOC130001854, LOC130001855 +1367 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 148455	GRCh38/hg38 9q21.11-21.12(chr9:68420349-70939579)x1	LOC130001865, LOC130001866 +70 more	Copy number loss	See cases	GLikely pathogenic
Select item 147624	GRCh38/hg38 9q21.11-31.2(chr9:68420430-106579493)x3	ABCA1, ABHD17B +1072 more	Copy number gain	See cases	GPathogenic
Select item 59106	GRCh38/hg38 9q21.11-21.12(chr9:68426796-69606104)x1	APBA1, BANCR +40 more	Copy number loss	See cases	GPathogenic
Select item 144150	GRCh38/hg38 9q21.11-21.13(chr9:68454847-76252863)x1	ABHD17B, ALDH1A1 +148 more	Copy number loss	See cases	GPathogenic
Select item 148901	GRCh38/hg38 9q21.11-21.32(chr9:68499530-83670227)x1	LOC130001938, LOC130001939 +263 more	Copy number loss	See cases	GPathogenic
Select item 155686	GRCh38/hg38 9q21.11-21.13(chr9:68624483-72028837)x3	ABHD17B, APBA1 +79 more	Copy number gain	See cases	GLikely pathogenic
Select item 155100	GRCh38/hg38 9q21.11-21.12(chr9:68802194-69342807)x3	BANCR, ENTREP1 +23 more	Copy number gain	See cases	GUncertain significance
Select item 151942	GRCh38/hg38 9q21.11(chr9:68991449-69164502)x3	FXN, LOC108510657 +11 more	Copy number gain	See cases	GUncertain significance
Select item 148399	GRCh38/hg38 9q21.11-21.12(chr9:69060538-69564402)x3	APBA1, BANCR +13 more	Copy number gain	See cases	GLikely benign
Select item 148211	GRCh38/hg38 9q21.11(chr9:69060538-69214496)x1	FXN, LOC124292588 +5 more	Copy number loss	See cases	GUncertain significance
Select item 236035	NC_000009.12:g.69090066_69225446dup	LOC124292588, LOC130001864 +4 more	Duplication	Autosomal dominant nonsyndromic hearing loss 51	GPathogenic
Select item 497144	NM_001170414.2(TJP2):c.-10G>A	TJP2	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 1193186	NM_001170414.2(TJP2):c.-10+22063G>A	TJP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1280535	NM_001170414.2(TJP2):c.-10+22220G>A	LOC130001866, TJP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1213124	NM_001170414.2(TJP2):c.-10+22244C>T	LOC130001866, TJP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1259088	NM_001170414.2(TJP2):c.-10+22262C>A	LOC130001866, TJP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1251404	NM_004817.3(TJP2):c.-185G>A	LOC130001866, TJP2	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1277563	NM_004817.3(TJP2):c.-133C>T	TJP2, LOC130001866	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 508600	NM_004817.4(TJP2):c.-26G>A	TJP2	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 3371975	NM_004817.4(TJP2):c.-16_-2del	TJP2	Deletion (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 259548	NM_004817.4(TJP2):c.-16G>T	TJP2	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 499803	NM_004817.4(TJP2):c.-5C>T	TJP2	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2888023	NM_004817.4(TJP2):c.4_11dup (p.Gly5fs)	TJP2 (G5fs)	Duplication (frameshift variant +2 more)	not provided	GPathogenic
Select item 289540	NM_004817.4(TJP2):c.19C>T (p.Arg7Cys)	TJP2 (R7C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1476257	NM_004817.4(TJP2):c.23G>C (p.Gly8Ala)	TJP2 (G8A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 596623	NM_004817.4(TJP2):c.37C>T (p.Arg13Trp)	TJP2 (R13W)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1695497	NM_004817.4(TJP2):c.49G>C (p.Gly17Arg)	TJP2 (G17R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3031767	NM_004817.4(TJP2):c.55C>T (p.Leu19Phe)	TJP2 (L19F)	Single nucleotide variant (missense variant +1 more)	TJP2-related disorder	GLikely benign
Select item 3049789	NM_004817.4(TJP2):c.60+7G>C	TJP2	Single nucleotide variant (intron variant)	TJP2-related disorder	GLikely benign
Select item 682800	NM_004817.4(TJP2):c.60+39CGTGAG[3]	TJP2	Microsatellite (intron variant)	not provided	GBenign
Select item 1274807	NM_004817.4(TJP2):c.61-7801G>T	LOC124292588, TJP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1253713	NM_004817.4(TJP2):c.61-7692T>C	TJP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1220827	NM_004817.4(TJP2):c.61-7456A>G	TJP2	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1198089	NM_004817.4(TJP2):c.61-7416G>A	TJP2	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 597441	NM_004817.4(TJP2):c.61-7391A>C	TJP2	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 593675	NM_004817.4(TJP2):c.61-7359A>T	TJP2 (M10L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 178677	NM_004817.4(TJP2):c.61-7344G>C	TJP2 (V15L)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GBenign/Likely benign
Select item 501167	NM_004817.4(TJP2):c.61-7341A>G	TJP2 (K16E)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 229311	NM_004817.4(TJP2):c.61-7319G>C	TJP2 (G23A)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 44104	NM_004817.4(TJP2):c.61-7316G>A	TJP2 (R24H)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign
Select item 594887	NM_004817.4(TJP2):c.61-7308C>A	TJP2 (P27T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 594245	NM_004817.4(TJP2):c.61-7293C>G	TJP2 (P32A)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 502532	NM_004817.4(TJP2):c.61-7279del	TJP2 (N37fs)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 596651	NM_004817.4(TJP2):c.61-7267A>G	TJP2	Single nucleotide variant (intron variant +1 more)	not provided	GUncertain significance
Select item 1181369	NM_004817.4(TJP2):c.61-6972G>C	TJP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1208451	NM_004817.4(TJP2):c.61-6929A>G	TJP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1205433	NM_004817.4(TJP2):c.61-301T>C	TJP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 680231	NM_004817.4(TJP2):c.61-7A>G	TJP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 165402	NM_004817.4(TJP2):c.61-6A>T	TJP2	Single nucleotide variant (intron variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 598215	NM_004817.4(TJP2):c.64C>G (p.Pro22Ala)	TJP2 (P22A +2 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2460165	NM_004817.4(TJP2):c.79C>G (p.Leu27Val)	TJP2 (L31V +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2111405	NM_004817.4(TJP2):c.81G>A (p.Leu27=)	TJP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 593570	NM_004817.4(TJP2):c.84dup (p.Trp29fs)	TJP2 (W60fs +3 more)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 1065103	NM_004817.4(TJP2):c.85T>C (p.Trp29Arg)	TJP2 (W29R +3 more)	Single nucleotide variant (missense variant)	Hearing impairment	GUncertain significance
Select item 1229523	NM_004817.4(TJP2):c.114+101T>C	TJP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1186539	NM_004817.4(TJP2):c.115-304G>A	TJP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1278190	NM_004817.4(TJP2):c.115-229C>A	TJP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1275385	NM_004817.4(TJP2):c.115-94T>G	TJP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 594221	NM_004817.4(TJP2):c.115-10T>C	TJP2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 595494	NM_004817.4(TJP2):c.115-7T>C	TJP2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 805845	NM_004817.4(TJP2):c.115-2A>C	TJP2	Single nucleotide variant (splice acceptor variant)	Cholestasis, progressive familial intrahepatic, 4	GPathogenic
Select item 805842	NM_004817.4(TJP2):c.115-1G>A	TJP2	Single nucleotide variant (splice acceptor variant)	Cholestasis, progressive familial intrahepatic, 4	GPathogenic
Select item 3236757	NM_004817.4(TJP2):c.120del (p.Arg42fs)	TJP2 (R19fs +3 more)	Deletion (frameshift variant)	Cholestasis, progressive familial intrahepatic, 4	GLikely pathogenic
Select item 498161	NM_004817.4(TJP2):c.122A>G (p.Lys41Arg)	TJP2 (K41R +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 598097	NM_004817.4(TJP2):c.142G>A (p.Val48Met)	TJP2 (V48M +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2907	NM_004817.4(TJP2):c.143T>C (p.Val48Ala)	TJP2 (V48A +3 more)	Single nucleotide variant (missense variant)	Hypercholanemia, familial 1 +1 more	GPathogenic/Likely pathogenic
Select item 2079463	NM_004817.4(TJP2):c.147C>T (p.Ser49=)	TJP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 165403	NM_004817.4(TJP2):c.185C>T (p.Thr62Met)	TJP2 (T39M +3 more)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 1305301	NM_004817.4(TJP2):c.190A>G (p.Ile64Val)	TJP2 (I41V +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2058876	NM_004817.4(TJP2):c.194T>C (p.Val65Ala)	TJP2 (V42A +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2184834	NM_004817.4(TJP2):c.205G>A (p.Val69Met)	TJP2 (V69M +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 598038	NM_004817.4(TJP2):c.212C>T (p.Pro71Leu)	TJP2 (P71L +3 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 1310914	NM_004817.4(TJP2):c.213G>A (p.Pro71=)	TJP2	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 502801	NM_004817.4(TJP2):c.215G>C (p.Gly72Ala)	TJP2 (G72A +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2089877	NM_004817.4(TJP2):c.220C>T (p.Pro74Ser)	TJP2 (P74S +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 596168	NM_004817.4(TJP2):c.229G>A (p.Gly77Arg)	TJP2 (G77R +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 805835	NM_004817.4(TJP2):c.236T>G (p.Leu79Arg)	TJP2 (L110R +3 more)	Single nucleotide variant (missense variant)	Cholestasis, progressive familial intrahepatic, 4	GLikely pathogenic
Select item 973543	NM_004817.4(TJP2):c.239+1G>A	TJP2	Single nucleotide variant (splice donor variant)	Cholestasis, progressive familial intrahepatic, 4	GPathogenic/Likely pathogenic
Select item 2875857	NM_004817.4(TJP2):c.239+12C>G	TJP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 259553	NM_004817.4(TJP2):c.239+14del	TJP2	Deletion (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1205402	NM_004817.4(TJP2):c.239+16C>T	TJP2	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 196398	NM_004817.4(TJP2):c.239+19T>C	TJP2	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 1287002	NM_004817.4(TJP2):c.239+173dup	TJP2	Duplication (intron variant)	not provided	GBenign
Select item 1187800	NM_004817.4(TJP2):c.240-231C>T	TJP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1956137	NM_004817.4(TJP2):c.258C>G (p.Val86=)	TJP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 288107	NM_004817.4(TJP2):c.258C>T (p.Val86=)	TJP2	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 3326236	NM_004817.4(TJP2):c.259A>G (p.Met87Val)	TJP2 (M118V +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

<< First< Prev

Page of 8