REPIN1-AS1[gene] - ClinVar

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Items: 61

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CCDC146, CCDC201 +4735 more	Copy number loss	See cases	GPathogenic
Select item 147547	GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3	LOC129998995, LOC129998996 +2212 more	Copy number gain	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 149905	GRCh38/hg38 7q31.32-36.3(chr7:121863759-159335865)x3	CADPS2, CALD1 +1380 more	Copy number gain	See cases	GPathogenic
Select item 57215	GRCh38/hg38 7q32.1-36.3(chr7:129310166-159282390)x3	ABCB8, ABCF2 +1176 more	Copy number gain	See cases	GPathogenic
Select item 155687	GRCh38/hg38 7q32.3-36.3(chr7:131171478-159327017)x3	TMEM139-AS1, TMEM140 +1052 more	Copy number gain	See cases	GPathogenic
Select item 154735	GRCh38/hg38 7q32.3-36.3(chr7:131228764-159335866)x3	MIR5707, MIR595 +1046 more	Copy number gain	See cases	GPathogenic
Select item 155640	GRCh38/hg38 7q32.3-36.3(chr7:132438072-159327017)x3	LOC123956245, LOC123956246 +1025 more	Copy number gain	See cases	GPathogenic
Select item 150858	GRCh38/hg38 7q32.3-36.3(chr7:132444095-159335866)x3	LOC285889, LOC349160 +1025 more	Copy number gain	See cases	GPathogenic
Select item 57401	GRCh38/hg38 7q32.3-36.3(chr7:132850196-159325876)x3	ABCB8, ABCF2 +1019 more	Copy number gain	See cases	GPathogenic
Select item 149061	GRCh38/hg38 7q33-36.3(chr7:134666829-158591882)x1	LOC129999467, LOC129999468 +944 more	Copy number loss	See cases	GPathogenic
Select item 59716	GRCh38/hg38 7q33-36.3(chr7:136309982-159307523)x3	LOC129999526, LOC129999527 +908 more	Copy number gain	See cases	GPathogenic
Select item 2579170	GRCh38/hg38 7q33-36.3(chr7:137463392-159345973)x3	AGAP3, AGK +888 more	Copy number gain	Neurodevelopmental disorder	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 2579171	GRCh38/hg38 7q34-36.3(chr7:138620939-159233475)x3	DYNC2I1, EN2 +847 more	Copy number gain	Neurodevelopmental disorder	GLikely pathogenic
Select item 60300	GRCh38/hg38 7q34-36.3(chr7:140754198-159307523)x1	LOC129999649, LOC129999650 +737 more	Copy number loss	See cases	GPathogenic
Select item 148181	GRCh38/hg38 7q34-36.3(chr7:141960861-159335866)x1	LOC129389950, LOC129999513 +707 more	Copy number loss	See cases	GPathogenic
Select item 60302	GRCh38/hg38 7q35-36.3(chr7:143884559-159282390)x1	LOC129389931, LOC129389932 +573 more	Copy number loss	See cases	GPathogenic
Select item 57118	GRCh38/hg38 7q35-36.1(chr7:143884559-152674271)x1	ABCB8, ABCF2 +358 more	Copy number loss	See cases	GPathogenic
Select item 148943	GRCh38/hg38 7q35-36.3(chr7:145250254-159335866)x1	TRC-GCA22-1, TRC-GCA23-1 +540 more	Copy number loss	See cases	GPathogenic
Select item 148263	GRCh38/hg38 7q35-36.3(chr7:145436544-159331441)x1	LOC129999578, LOC129999579 +538 more	Copy number loss	See cases	GLikely pathogenic
Select item 60312	GRCh38/hg38 7q35-36.3(chr7:145699944-159296617)x1	ABCB8, ABCF2 +533 more	Copy number loss	See cases	GPathogenic
Select item 148715	GRCh38/hg38 7q35-36.3(chr7:146047157-157522158)x1	ATG9B, ATP6V0E2 +473 more	Copy number loss	See cases	GPathogenic
Select item 155436	GRCh38/hg38 7q35-36.3(chr7:147144002-159327017)x1	LOC129389937, LOC129389938 +526 more	Copy number loss	See cases	GPathogenic
Select item 57408	GRCh38/hg38 7q35-36.3(chr7:147250465-159325876)x1	ABCB8, ABCF2 +526 more	Copy number loss	See cases	GPathogenic
Select item 146558	GRCh38/hg38 7q35-36.2(chr7:147345844-153833351)x3	LOC126860222, LOC126860223 +329 more	Copy number gain	See cases	GPathogenic
Select item 57185	GRCh38/hg38 7q35-36.1(chr7:147345844-150426340)x1	ACTR3C, ATP6V0E2 +142 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 149569	GRCh38/hg38 7q36.1-36.2(chr7:150113232-154162779)x3	ABCB8, ABCF2 +212 more	Copy number gain	See cases	GLikely pathogenic
Select item 154525	GRCh38/hg38 7q36.1-36.3(chr7:150260297-159325876)x1	ABCB8, ABCF2 +407 more	Copy number loss	See cases	GPathogenic
Select item 150864	GRCh38/hg38 7q36.1-36.2(chr7:150275734-153342804)x3	LOC129999605, LOC129999606 +205 more	Copy number gain	See cases	GUncertain significance
Select item 57001	GRCh38/hg38 7q36.1(chr7:150319864-152674271)x1	LOC110121278, LOC110121279 +191 more	Copy number loss	See cases	GPathogenic
Select item 2533574	NM_001099695.2(REPIN1):c.25C>G (p.Leu9Val)	REPIN1, REPIN1-AS1 (L9V)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2353035	NM_001099695.2(REPIN1):c.86G>C (p.Arg29Pro)	REPIN1, REPIN1-AS1 (R29P +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	GUncertain significance
Select item 2407011	NM_001099695.2(REPIN1):c.1199C>G (p.Pro400Arg)	REPIN1, REPIN1-AS1 (P400R +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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)	Inborn genetic diseases	GUncertain significance
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 2402148	NM_001099695.2(REPIN1):c.1261C>G (p.Pro421Ala)	REPIN1, REPIN1-AS1 (P423A +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	GUncertain significance
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)	Inborn genetic diseases	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)	Inborn genetic diseases	GUncertain significance
Select item 2601219	NM_001099695.2(REPIN1):c.1787G>T (p.Arg596Leu)	REPIN1, REPIN1-AS1 (R539L +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
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)	Inborn genetic diseases	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)	Inborn genetic diseases	GUncertain significance

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Items: 61