ClinVar for Gene (Select 29803) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3152997	NM_001099695.2(REPIN1):c.97C>A (p.Pro33Thr)	REPIN1, REPIN1-AS1 (P36T +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3152996	NM_001099695.2(REPIN1):c.886G>A (p.Ala296Thr)	REPIN1, REPIN1-AS1 (A296T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152995	NM_001099695.2(REPIN1):c.272A>C (p.Glu91Ala)	REPIN1, REPIN1-AS1 (E34A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152994	NM_001099695.2(REPIN1):c.229C>T (p.Leu77Phe)	REPIN1, REPIN1-AS1 (L79F +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152993	NM_001099695.2(REPIN1):c.1795G>C (p.Ala599Pro)	REPIN1, REPIN1-AS1 (A598P +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3152992	NM_001099695.2(REPIN1):c.1625A>G (p.Lys542Arg)	REPIN1, REPIN1-AS1 (K485R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152991	NM_001099695.2(REPIN1):c.1350C>A (p.His450Gln)	REPIN1, REPIN1-AS1 (H449Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152989	NM_001099695.2(REPIN1):c.1129T>G (p.Ser377Ala)	REPIN1, REPIN1-AS1 (S320A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3148948	GRCh37/hg19 7q34-36.3(chr7:141690279-159119707)x3	ABCB8, ABCF2 +125 more	Copy number gain	See cases	GPathogenic
Select item 3062984	GRCh37/hg19 7q33-36.3(chr7:137456457-159119707)x3	ABCB8, ABCF2 +165 more	Copy number gain	not specified	GPathogenic
Select item 3062962	GRCh37/hg19 7q36.1(chr7:148896264-150963866)x1	LOC100134040, LRRC61 +40 more	Copy number loss	not specified	GPathogenic
Select item 2685275	GRCh37/hg19 7q36.1(chr7:148538593-150967829)x1	TMEM176B, ZNF425 +49 more	Copy number loss	not provided	GPathogenic
Select item 2685274	GRCh37/hg19 7q35-36.3(chr7:144940098-159119707)x1	INSIG1, PDIA4 +80 more	Copy number loss	not provided	GPathogenic
Select item 2685272	GRCh37/hg19 7q34-36.3(chr7:142099013-159119707)x1	CLCN1, RHEB +123 more	Copy number loss	not provided	GPathogenic
Select item 2685271	GRCh37/hg19 7q33-36.3(chr7:135639005-159119707)x1	ARHGEF35, KEL +169 more	Copy number loss	not provided	GPathogenic
Select item 2681512	NM_001099695.2(REPIN1):c.379G>A (p.Val127Met)	REPIN1, REPIN1-AS1 (V126M +3 more)	Single nucleotide variant (missense variant)	EBV-positive nodal T- and NK-cell lymphoma	GLikely benign
Select item 2658157	NM_001099695.2(REPIN1):c.1254A>C (p.Pro418=)	REPIN1, REPIN1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2621694	NM_001099695.2(REPIN1):c.1486C>A (p.Arg496Ser)	REPIN1, REPIN1-AS1 (R439S +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2619306	NM_001099695.2(REPIN1):c.1564G>T (p.Gly522Cys)	REPIN1, REPIN1-AS1 (G522C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601219	NM_001099695.2(REPIN1):c.1787G>T (p.Arg596Leu)	REPIN1, REPIN1-AS1 (R539L +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2583057	GRCh37/hg19 7q34-36.1(chr7:140154317-152551638)x1	C7orf33, CASP2 +125 more	Copy number loss	not provided	GPathogenic
Select item 2579171	GRCh38/hg38 7q34-36.3(chr7:138620939-159233475)x3	DYNC2I1, EN2 +847 more	Copy number gain	Neurodevelopmental disorder	GLikely pathogenic
Select item 2579170	GRCh38/hg38 7q33-36.3(chr7:137463392-159345973)x3	AGAP3, AGK +888 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 2549266	NM_001099695.2(REPIN1):c.1864C>T (p.His622Tyr)	REPIN1, REPIN1-AS1 (H621Y +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2533574	NM_001099695.2(REPIN1):c.25C>G (p.Leu9Val)	REPIN1, REPIN1-AS1 (L9V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2487229	NM_001099695.2(REPIN1):c.934C>A (p.Arg312Ser)	REPIN1, REPIN1-AS1 (R311S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465287	NM_001099695.2(REPIN1):c.131C>T (p.Pro44Leu)	REPIN1, REPIN1-AS1 (P44L +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2464598	NM_001099695.2(REPIN1):c.491A>G (p.His164Arg)	REPIN1, REPIN1-AS1 (H164R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2425346	NC_000007.13:g.(?_130781014)_(150301047_?)del	KRBA1, LLCFC1 +141 more	Deletion	not provided	GPathogenic
Select item 2407011	NM_001099695.2(REPIN1):c.1199C>G (p.Pro400Arg)	REPIN1, REPIN1-AS1 (P400R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404528	NM_001099695.2(REPIN1):c.1163A>C (p.Gln388Pro)	REPIN1, REPIN1-AS1 (Q387P +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402148	NM_001099695.2(REPIN1):c.1261C>G (p.Pro421Ala)	REPIN1, REPIN1-AS1 (P423A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387774	NM_001099695.2(REPIN1):c.653G>T (p.Arg218Leu)	REPIN1, REPIN1-AS1 (R217L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360499	NM_001099695.2(REPIN1):c.1471G>C (p.Glu491Gln)	REPIN1, REPIN1-AS1 (E490Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356570	NM_001099695.2(REPIN1):c.1286C>G (p.Pro429Arg)	REPIN1, REPIN1-AS1 (P372R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355170	NM_001099695.2(REPIN1):c.415C>T (p.Arg139Trp)	REPIN1, REPIN1-AS1 (R138W +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353035	NM_001099695.2(REPIN1):c.86G>C (p.Arg29Pro)	REPIN1-AS1, REPIN1 (R29P +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2345202	NM_001099695.2(REPIN1):c.1148G>A (p.Gly383Asp)	REPIN1, REPIN1-AS1 (G385D +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343764	NM_001099695.2(REPIN1):c.1867G>A (p.Asp623Asn)	REPIN1, REPIN1-AS1 (D625N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330554	NM_001099695.2(REPIN1):c.1435T>C (p.Ser479Pro)	REPIN1, REPIN1-AS1 (S422P +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303742	NM_001099695.2(REPIN1):c.1436C>G (p.Ser479Trp)	REPIN1, REPIN1-AS1 (S479W +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292672	NM_001099695.2(REPIN1):c.524G>A (p.Cys175Tyr)	REPIN1, REPIN1-AS1 (C118Y +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264239	NM_001099695.2(REPIN1):c.1021C>T (p.Arg341Cys)	REPIN1, REPIN1-AS1 (R343C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254332	NM_001099695.2(REPIN1):c.683C>T (p.Ala228Val)	REPIN1, REPIN1-AS1 (A227V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254331	NM_001099695.2(REPIN1):c.473C>G (p.Ala158Gly)	REPIN1, REPIN1-AS1 (A158G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253860	NM_001099695.2(REPIN1):c.709G>A (p.Gly237Ser)	REPIN1, REPIN1-AS1 (G180S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235889	NM_001099695.2(REPIN1):c.689A>G (p.Glu230Gly)	REPIN1, REPIN1-AS1 (E229G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222269	NM_001099695.2(REPIN1):c.1223C>A (p.Pro408Gln)	REPIN1, REPIN1-AS1 (P408Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208517	NM_001099695.2(REPIN1):c.1312G>T (p.Gly438Cys)	REPIN1, REPIN1-AS1 (G381C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808990	GRCh37/hg19 7q36.1(chr7:150018908-150591382)x1	ACTR3C, AOC1 +14 more	Copy number loss	not provided	GUncertain significance
Select item 1807607	GRCh37/hg19 7q36.1(chr7:149332630-151498689)x1	ABCB8, ABCF2 +40 more	Copy number loss	not provided	GPathogenic
Select item 1708459	GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1	AASS, ABCA13 +896 more	Copy number loss	See cases	GUncertain significance
Select item 1703560	Single allele	CACNA2D1, CADPS2 +896 more	Complex	Ring chromosome 7	GPathogenic
Select item 1341986	GRCh37/hg19 7q36.1-36.3(chr7:149062717-159124131)x1	ABCB8, ABCF2 +65 more	Copy number loss	not provided	GPathogenic
Select item 1341970	GRCh37/hg19 7q35-36.3(chr7:146927174-159128556)x3	ABCB8, ABCF2 +80 more	Copy number gain	not provided	GPathogenic
Select item 1341257	GRCh37/hg19 7q33-36.3(chr7:133851002-159119707)x3	ABCB8, ABCF2 +186 more	Copy number gain	not provided	GPathogenic
Select item 1340734	GRCh37/hg19 7q36.1-36.3(chr7:148153261-157543640)x3	ACTR3C, ABCB8 +75 more	Copy number gain	not provided	GPathogenic
Select item 1340055	GRCh37/hg19 7q36.1-36.3(chr7:148695373-159119707)x1	ABCB8, ABCF2 +72 more	Copy number loss	not provided	GPathogenic
Select item 973042	GRCh37/hg19 7q35-36.3(chr7:143107740-156886246)x3	ABCB8, ABCF2 +96 more	Copy number gain	not provided	Gnot provided
Select item 830893	NC_000007.13:g.(?_150066801)_(150759750_?)del	CDK5, GIMAP1 +17 more	Deletion	Long QT syndrome	GPathogenic
Select item 816507	GRCh37/hg19 7q32.3-36.3(chr7:131414604-159126310)x1	ABCB8, ABCF2 +190 more	Copy number loss	See cases	GPathogenic
Select item 815045	GRCh37/hg19 7q35-36.3(chr7:145962558-159119707)x1	NOM1, NOS3 +80 more	Copy number loss	not provided	GPathogenic
Select item 815017	GRCh37/hg19 7q31.1-36.3(chr7:109251060-159119707)x3	CHRM2, KRBA1 +295 more	Copy number gain	not provided	GPathogenic
Select item 688885	GRCh37/hg19 7q36.1(chr7:149964361-150163624)x3	ACTR3C, GIMAP8 +5 more	Copy number gain	not provided	GUncertain significance
Select item 688878	GRCh37/hg19 7q32.3-36.3(chr7:130592554-159119707)x3	OR2A25, OR2A42 +192 more	Copy number gain	not provided	GPathogenic
Select item 687427	GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3	PRSS1, PRSS37 +896 more	Copy number gain	not provided	GPathogenic
Select item 686874	GRCh37/hg19 7q36.1(chr7:149968222-152539376)x3	ABCB8, ABCF2 +40 more	Copy number gain	not provided	GUncertain significance
Select item 625550	GRCh37/hg19 7q32.1-36.3(chr7:128312450-159119220)	ABCB8, ABCF2 +229 more	Copy number gain	not provided	GPathogenic
Select item 563422	GRCh37/hg19 7q22.1-36.3(chr7:98693388-159119707)x3	AASS, ABCB8 +436 more	Copy number gain	not provided	GPathogenic
Select item 563421	GRCh37/hg19 7q34-36.3(chr7:140133025-158982771)x1	ABCB8, ABCF2 +143 more	Copy number loss	not provided	GPathogenic
Select item 442966	GRCh37/hg19 7q33-36.3(chr7:137917376-159119707)x1	ABCB8, ABCF2 +162 more	Copy number loss	See cases	GPathogenic
Select item 442834	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3	AVL9, AZGP1 +896 more	Copy number gain	See cases	GPathogenic
Select item 442833	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)	MCM7, MDFIC +896 more	Copy number gain	See cases	GPathogenic
Select item 442595	GRCh37/hg19 7q34-36.3(chr7:140636858-159119707)x1	ABCB8, ABCF2 +138 more	Copy number loss	See cases	GPathogenic
Select item 442236	GRCh37/hg19 7q36.1(chr7:148189771-150867270)x4	ABCB8, ACTR3C +46 more	Copy number gain	See cases	GUncertain significance
Select item 441751	GRCh37/hg19 7q33-36.3(chr7:136758593-159119707)x3	DGKI, DNAJB6 +166 more	Copy number gain	See cases	GPathogenic
Select item 393748	GRCh37/hg19 7q36.1-36.3(chr7:149261179-159075020)x3	ABCB8, ABCF2 +63 more	Copy number gain	See cases	GPathogenic
Select item 226277	GRCh37/hg19 7q35-36.3(chr7:143839360-159138663)	CRYGN, CTAGE4 +89 more	Copy number loss	Abnormal esophagus morphology	GPathogenic
Select item 155687	GRCh38/hg38 7q32.3-36.3(chr7:131171478-159327017)x3	LOC129999666, LOC129999667 +1052 more	Copy number gain	See cases	GPathogenic
Select item 155640	GRCh38/hg38 7q32.3-36.3(chr7:132438072-159327017)x3	LOC129999503, LOC129999504 +1025 more	Copy number gain	See cases	GPathogenic
Select item 155436	GRCh38/hg38 7q35-36.3(chr7:147144002-159327017)x1	LOC126860247, LOC126860248 +526 more	Copy number loss	See cases	GPathogenic
Select item 154735	GRCh38/hg38 7q32.3-36.3(chr7:131228764-159335866)x3	TMEM140, TMEM176A +1046 more	Copy number gain	See cases	GPathogenic
Select item 154525	GRCh38/hg38 7q36.1-36.3(chr7:150260297-159325876)x1	LOC129999582, LOC129999583 +407 more	Copy number loss	See cases	GPathogenic
Select item 152912	GRCh38/hg38 7q31.2-36.3(chr7:115459015-159325817)x3	LOC129999548, LOC129999549 +1547 more	Copy number gain	See cases	GPathogenic
Select item 150864	GRCh38/hg38 7q36.1-36.2(chr7:150275734-153342804)x3	ABCB8, ABCF2 +205 more	Copy number gain	See cases	GUncertain significance
Select item 150858	GRCh38/hg38 7q32.3-36.3(chr7:132444095-159335866)x3	LINC00996, LINC01003 +1025 more	Copy number gain	See cases	GPathogenic
Select item 149905	GRCh38/hg38 7q31.32-36.3(chr7:121863759-159335865)x3	LOC129999653, LOC129999654 +1380 more	Copy number gain	See cases	GPathogenic
Select item 149569	GRCh38/hg38 7q36.1-36.2(chr7:150113232-154162779)x3	ABCB8, ABCF2 +212 more	Copy number gain	See cases	GLikely pathogenic
Select item 149061	GRCh38/hg38 7q33-36.3(chr7:134666829-158591882)x1	WDR86, WDR86-AS1 +944 more	Copy number loss	See cases	GPathogenic
Select item 148943	GRCh38/hg38 7q35-36.3(chr7:145250254-159335866)x1	LOC105375556, LOC105375589 +540 more	Copy number loss	See cases	GPathogenic
Select item 148715	GRCh38/hg38 7q35-36.3(chr7:146047157-157522158)x1	ABCB8, ABCF2 +473 more	Copy number loss	See cases	GPathogenic
Select item 148263	GRCh38/hg38 7q35-36.3(chr7:145436544-159331441)x1	ABCB8, ABCF2 +538 more	Copy number loss	See cases	GLikely pathogenic
Select item 148181	GRCh38/hg38 7q34-36.3(chr7:141960861-159335866)x1	ABCB8, ABCF2 +707 more	Copy number loss	See cases	GPathogenic
Select item 147547	GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3	LOC111674474, LOC111674475 +2212 more	Copy number gain	See cases	GPathogenic
Select item 147398	GRCh38/hg38 7q33-36.2(chr7:137751200-154815582)x3	ABCB8, ABCF2 +692 more	Copy number gain	See cases	GPathogenic
Select item 146558	GRCh38/hg38 7q35-36.2(chr7:147345844-153833351)x3	ABCB8, ABCF2 +329 more	Copy number gain	See cases	GPathogenic
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	LOC121740684, LOC121740685 +4735 more	Copy number loss	See cases	GPathogenic
Select item 60313	GRCh38/hg38 7q36.1(chr7:148256584-152332535)x1	ABCB8, ABCF2 +293 more	Copy number loss	See cases	GPathogenic
Select item 60312	GRCh38/hg38 7q35-36.3(chr7:145699944-159296617)x1	ABCB8, ABCF2 +533 more	Copy number loss	See cases	GPathogenic
Select item 60302	GRCh38/hg38 7q35-36.3(chr7:143884559-159282390)x1	LOC129999755, LOC129999756 +573 more	Copy number loss	See cases	GPathogenic

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