"Ambry Genetics"[submitter] AND "REPIN1"[gene] - ClinVar

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Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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: 28