ARVCF[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1280000	NM_001670.3(ARVCF):c.*12+70C>T	ARVCF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1274749	NM_001670.3(ARVCF):c.12+69_12+70del	ARVCF	Deletion (intron variant)	not provided	GBenign
Select item 1335474	NM_001670.3(ARVCF):c.2872G>A (p.Val958Ile)	ARVCF (V958I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2476815	NM_001670.3(ARVCF):c.2848G>A (p.Val950Ile)	ARVCF (V881I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130004	NM_001670.3(ARVCF):c.2846C>T (p.Ala949Val)	ARVCF (A880V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3316844	NM_001670.3(ARVCF):c.2812G>A (p.Gly938Arg)	ARVCF (G869R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1242019	NM_001670.3(ARVCF):c.2811C>T (p.Pro937=)	ARVCF	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2524512	NM_001670.3(ARVCF):c.2803C>T (p.Pro935Ser)	ARVCF (P866S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308054	NM_001670.3(ARVCF):c.2797A>G (p.Lys933Glu)	ARVCF (K864E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1277085	NM_001670.3(ARVCF):c.2782-153C>T	ARVCF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1243428	NM_001670.3(ARVCF):c.2782-175C>T	ARVCF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1297923	NM_001670.3(ARVCF):c.2781+182C>T	ARVCF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1287158	NM_001670.3(ARVCF):c.2781+43C>T	ARVCF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3316882	NM_001670.3(ARVCF):c.2768A>C (p.Lys923Thr)	ARVCF (K923T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130003	NM_001670.3(ARVCF):c.2764G>A (p.Glu922Lys)	ARVCF (E853K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130001	NM_001670.3(ARVCF):c.2735G>A (p.Arg912Gln)	ARVCF (R912Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 709187	NM_001670.3(ARVCF):c.2734C>T (p.Arg912Trp)	ARVCF (R912W)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 709198	NM_001670.3(ARVCF):c.2726G>A (p.Arg909Gln)	ARVCF (R909Q)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1234835	NM_001670.3(ARVCF):c.2717G>A (p.Arg906Gln)	ARVCF (R906Q)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2488825	NM_001670.3(ARVCF):c.2705C>A (p.Ser902Tyr)	ARVCF (S902Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1013203	NM_001670.3(ARVCF):c.2697C>T (p.Asp899=)	ARVCF	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1233397	NM_001670.3(ARVCF):c.2695+135G>A	ARVCF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2259417	NM_001670.3(ARVCF):c.2693C>A (p.Pro898Gln)	ARVCF (P898Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598592	NM_001670.3(ARVCF):c.2674C>T (p.Pro892Ser)	ARVCF (P823S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593635	NM_001670.3(ARVCF):c.2661C>G (p.Ser887Arg)	ARVCF (S887R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130000	NM_001670.3(ARVCF):c.2657G>T (p.Gly886Val)	ARVCF (G817V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328547	NM_001670.3(ARVCF):c.2644G>A (p.Gly882Ser)	ARVCF (G882S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1239703	NM_001670.3(ARVCF):c.2642-21T>C	ARVCF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1276254	NM_001670.3(ARVCF):c.2641+120C>T	ARVCF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1289065	NM_001670.3(ARVCF):c.2641+76G>C	ARVCF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1266017	NM_001670.3(ARVCF):c.2641+72A>G	ARVCF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1274175	NM_001670.3(ARVCF):c.2641+62C>G	ARVCF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2391419	NM_001670.3(ARVCF):c.2615C>T (p.Thr872Met)	ARVCF (T872M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129999	NM_001670.3(ARVCF):c.2599G>T (p.Gly867Cys)	ARVCF (G867C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317527	NM_001670.3(ARVCF):c.2555C>G (p.Ala852Gly)	ARVCF (A783G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1261067	NM_001670.3(ARVCF):c.2551-44C>T	ARVCF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2406278	NM_001670.3(ARVCF):c.2525A>C (p.Asp842Ala)	ARVCF (D773A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129998	NM_001670.3(ARVCF):c.2513C>G (p.Thr838Ser)	ARVCF (T769S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481679	NM_001670.3(ARVCF):c.2513C>T (p.Thr838Ile)	ARVCF (T769I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 709199	NM_001670.3(ARVCF):c.2499G>A (p.Lys833=)	ARVCF	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 720941	NM_001670.3(ARVCF):c.2486T>C (p.Val829Ala)	ARVCF (V829A)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2273269	NM_001670.3(ARVCF):c.2476C>G (p.Leu826Val)	ARVCF (L826V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 930993	NM_001670.3(ARVCF):c.2439-2A>C	ARVCF	Single nucleotide variant (splice acceptor variant)	See cases	GUncertain significance
Select item 1181121	NM_001670.3(ARVCF):c.2438+36C>G	ARVCF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3316879	NM_001670.3(ARVCF):c.2435C>A (p.Ser812Tyr)	ARVCF (S812Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 789863	NM_001670.3(ARVCF):c.2414C>T (p.Ala805Val)	ARVCF (A805V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3316825	NM_001670.3(ARVCF):c.2398G>T (p.Ala800Ser)	ARVCF (A731S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 773921	NM_001670.3(ARVCF):c.2358C>T (p.Ile786=)	ARVCF	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3316872	NM_001670.3(ARVCF):c.2339T>C (p.Leu780Pro)	ARVCF (L780P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2618233	NM_001670.3(ARVCF):c.2297G>A (p.Arg766Gln)	ARVCF (R697Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1233744	NM_001670.3(ARVCF):c.2239+159C>G	ARVCF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1266945	NM_001670.3(ARVCF):c.2239+156G>A	ARVCF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1229748	NM_001670.3(ARVCF):c.2239+150dup	ARVCF	Duplication (intron variant)	not provided	GBenign
Select item 1291909	NM_001670.3(ARVCF):c.2239+65G>A	ARVCF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3129997	NM_001670.3(ARVCF):c.2135C>T (p.Pro712Leu)	ARVCF (P643L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129996	NM_001670.3(ARVCF):c.2081A>G (p.Asn694Ser)	ARVCF (N625S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129995	NM_001670.3(ARVCF):c.2072G>A (p.Ser691Asn)	ARVCF (S622N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225439	NM_001670.3(ARVCF):c.2068C>T (p.Leu690Phe)	ARVCF (L690F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129994	NM_001670.3(ARVCF):c.2050G>A (p.Ala684Thr)	ARVCF (A615T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 770471	NM_001670.3(ARVCF):c.2031C>G (p.Phe677Leu)	ARVCF (F677L)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2341843	NM_001670.3(ARVCF):c.1993C>T (p.Arg665Cys)	ARVCF (R596C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552646	NM_001670.3(ARVCF):c.1987G>T (p.Val663Leu)	ARVCF (V663L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 737350	NM_001670.3(ARVCF):c.1983C>T (p.Pro661=)	ARVCF	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1267956	NM_001670.3(ARVCF):c.1961-164C>T	ARVCF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1238346	NM_001670.3(ARVCF):c.1961-193T>C	ARVCF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2286430	NM_001670.3(ARVCF):c.1913G>A (p.Arg638Gln)	ARVCF (R638Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591248	NM_001670.3(ARVCF):c.1893G>C (p.Lys631Asn)	ARVCF (K631N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1249301	NM_001670.3(ARVCF):c.1889-143G>A	ARVCF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1182839	NM_001670.3(ARVCF):c.1871-172A>C	ARVCF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 738415	NM_001670.3(ARVCF):c.1870+10G>A	ARVCF	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3316878	NM_001670.3(ARVCF):c.1856G>A (p.Gly619Asp)	ARVCF (G556D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 813697	NM_001670.3(ARVCF):c.1837G>A (p.Asp613Asn)	ARVCF (D613N)	Single nucleotide variant (missense variant)	Microcephaly	GUncertain significance
Select item 2517624	NM_001670.3(ARVCF):c.1832G>A (p.Arg611Gln)	ARVCF (R548Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129993	NM_001670.3(ARVCF):c.1825C>T (p.Arg609Trp)	ARVCF (R546W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129992	NM_001670.3(ARVCF):c.1823G>A (p.Arg608His)	ARVCF (R608H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 727053	NM_001670.3(ARVCF):c.1822C>T (p.Arg608Cys)	ARVCF (R608C)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2607146	NM_001670.3(ARVCF):c.1796C>T (p.Pro599Leu)	ARVCF (P536L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 207851	NM_001670.3(ARVCF):c.1792G>A (p.Gly598Arg)	ARVCF (G598R)	Single nucleotide variant (missense variant)	Long QT syndrome	GLikely benign
Select item 2337777	NM_001670.3(ARVCF):c.1705G>A (p.Glu569Lys)	ARVCF (E569K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 809319	NM_001670.3(ARVCF):c.1703_1704del (p.Val568fs)	ARVCF (V568fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2227397	NM_001670.3(ARVCF):c.1684G>A (p.Asp562Asn)	ARVCF (D562N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600644	NM_001670.3(ARVCF):c.1622G>A (p.Arg541Gln)	ARVCF (R541Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510672	NM_001670.3(ARVCF):c.1618C>T (p.Leu540Phe)	ARVCF (L477F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 445517	NM_001670.3(ARVCF):c.1616G>A (p.Arg539Gln)	ARVCF (R539Q)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 2598172	NM_001670.3(ARVCF):c.1613G>A (p.Arg538Gln)	ARVCF (R538Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392960	NM_001670.3(ARVCF):c.1610G>A (p.Arg537Gln)	ARVCF (R474Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3257179	NM_001670.3(ARVCF):c.1597G>A (p.Gly533Ser)	ARVCF (G470S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2652874	NM_001670.3(ARVCF):c.1584T>C (p.Asn528=)	ARVCF	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3129990	NM_001670.3(ARVCF):c.1583A>G (p.Asn528Ser)	ARVCF (N528S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1282513	NM_001670.3(ARVCF):c.1580+100A>G	ARVCF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3129989	NM_001670.3(ARVCF):c.1565C>T (p.Thr522Met)	ARVCF (T522M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 760714	NM_001670.3(ARVCF):c.1539C>T (p.Ala513=)	ARVCF	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2409584	NM_001670.3(ARVCF):c.1531C>T (p.Arg511Trp)	ARVCF (R511W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 712281	NM_001670.3(ARVCF):c.1438G>A (p.Val480Ile)	ARVCF (V480I)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 712282	NM_001670.3(ARVCF):c.1397-7C>T	ARVCF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1278606	NM_001670.3(ARVCF):c.1397-146G>A	ARVCF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1223805	NM_001670.3(ARVCF):c.1396+198C>T	ARVCF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1288937	NM_001670.3(ARVCF):c.1396+40G>A	ARVCF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1235245	NM_001670.3(ARVCF):c.1396+18A>G	ARVCF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2652875	NM_001670.3(ARVCF):c.1332T>C (p.Gly444=)	ARVCF	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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