Related gene-specific medical variations for Gene (Select 29803) - ClinVar

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

Links from Gene

Items: 44

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3313622	NM_001099695.2(REPIN1):c.1759C>T (p.Leu587Phe)	REPIN1, REPIN1-AS1 (L589F +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3313621	NM_001099695.2(REPIN1):c.442G>A (p.Gly148Ser)	REPIN1, REPIN1-AS1 (G148S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3313620	NM_001099695.2(REPIN1):c.1841G>A (p.Arg614Lys)	REPIN1, REPIN1-AS1 (R557K +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 3313618	NM_001099695.2(REPIN1):c.88G>C (p.Gly30Arg)	REPIN1, REPIN1-AS1 (G30R +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 3313617	NM_001099695.2(REPIN1):c.1514C>T (p.Ala505Val)	REPIN1, REPIN1-AS1 (A448V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3313616	NM_001099695.2(REPIN1):c.640C>G (p.Arg214Gly)	REPIN1, REPIN1-AS1 (R216G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 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 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 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, REPIN1-AS1 (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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 44