ABCF1[gene] - ClinVar

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Items: 54

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	ILRUN-AS1, IP6K3 +2582 more	Copy number gain	See cases	GPathogenic
Select item 150044	GRCh38/hg38 6p25.2-21.33(chr6:3224310-30657190)x3	ABCF1, ABT1 +1340 more	Copy number gain	See cases	GPathogenic
Select item 2391683	NM_001025091.2(ABCF1):c.5C>G (p.Pro2Arg)	ABCF1 (P2R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235092	NM_001025091.2(ABCF1):c.91G>A (p.Gly31Arg)	ABCF1 (G31R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489770	NM_001025091.2(ABCF1):c.106A>C (p.Lys36Gln)	ABCF1 (K36Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278125	NM_001025091.2(ABCF1):c.111C>G (p.Ile37Met)	ABCF1 (I37M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529469	NM_001025091.2(ABCF1):c.157G>A (p.Gly53Arg)	ABCF1 (G53R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250170	NM_001025091.2(ABCF1):c.185A>G (p.Lys62Arg)	ABCF1 (K62R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531149	NM_001025091.2(ABCF1):c.233A>G (p.Asp78Gly)	ABCF1 (D78G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363987	NM_001025091.2(ABCF1):c.272A>C (p.Asp91Ala)	ABCF1 (D91A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403497	NM_001025091.2(ABCF1):c.274G>A (p.Gly92Arg)	ABCF1 (G92R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3307751	NM_001025091.2(ABCF1):c.277G>A (p.Glu93Lys)	ABCF1 (E93K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129391	NM_001025091.2(ABCF1):c.298C>T (p.Arg100Cys)	ABCF1 (R100C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365019	NM_001025091.2(ABCF1):c.349G>A (p.Ala117Thr)	ABCF1 (A117T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523190	NM_001025091.2(ABCF1):c.362G>A (p.Arg121His)	ABCF1 (R121H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359977	NM_001025091.2(ABCF1):c.419G>A (p.Ser140Asn)	ABCF1 (S140N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234763	NM_001025091.2(ABCF1):c.613G>A (p.Glu205Lys)	ABCF1 (E205K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247318	NM_001025091.2(ABCF1):c.661G>A (p.Ala221Thr)	ABCF1 (A221T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129396	NM_001025091.2(ABCF1):c.677A>G (p.Gln226Arg)	ABCF1 (Q226R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404304	NM_001025091.2(ABCF1):c.683C>T (p.Ser228Leu)	ABCF1 (S228L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3307921	NM_001025091.2(ABCF1):c.740A>G (p.Asp247Gly)	ABCF1 (D247G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2543312	NM_001025091.2(ABCF1):c.757C>T (p.Leu253Phe)	ABCF1 (L253F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3129399	NM_001025091.2(ABCF1):c.827C>T (p.Ala276Val)	ABCF1 (A276V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473160	NM_001025091.2(ABCF1):c.833A>G (p.Asn278Ser)	ABCF1 (N240S +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2287528	NM_001025091.2(ABCF1):c.873G>A (p.Met291Ile)	ABCF1 (M253I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232412	NM_001025091.2(ABCF1):c.983C>A (p.Ala328Asp)	ABCF1 (A328D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607989	NM_001025091.2(ABCF1):c.1018A>C (p.Lys340Gln)	ABCF1 (K340Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129330	NM_001025091.2(ABCF1):c.1030A>G (p.Thr344Ala)	ABCF1 (T306A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 714311	NM_001025091.2(ABCF1):c.1187G>A (p.Arg396Gln)	ABCF1 (R396Q +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2278546	NM_001025091.2(ABCF1):c.1240A>G (p.Lys414Glu)	ABCF1 (K376E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2620520	NM_001025091.2(ABCF1):c.1284G>T (p.Glu428Asp)	ABCF1 (E428D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129353	NM_001025091.2(ABCF1):c.1346C>T (p.Thr449Ile)	ABCF1 (T411I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613459	NM_001025091.2(ABCF1):c.1571A>G (p.Gln524Arg)	ABCF1 (Q524R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357562	NM_001025091.2(ABCF1):c.1586A>G (p.Tyr529Cys)	ABCF1 (Y491C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3307826	NM_001025091.2(ABCF1):c.1591G>A (p.Gly531Ser)	ABCF1 (G493S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317797	NM_001025091.2(ABCF1):c.1655A>G (p.Glu552Gly)	ABCF1 (E552G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408349	NM_001025091.2(ABCF1):c.1774G>A (p.Asp592Asn)	ABCF1 (D554N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 786081	NM_001025091.2(ABCF1):c.1796C>T (p.Pro599Leu)	ABCF1 (P599L +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2205761	NM_001025091.2(ABCF1):c.1883A>G (p.His628Arg)	ABCF1 (H628R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129368	NM_001025091.2(ABCF1):c.1903C>G (p.Gln635Glu)	ABCF1 (Q635E +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2369693	NM_001025091.2(ABCF1):c.2030C>T (p.Pro677Leu)	ABCF1 (P677L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2256935	NM_001025091.2(ABCF1):c.2059C>T (p.Arg687Trp)	ABCF1 (R649W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600260	NM_001025091.2(ABCF1):c.2105G>A (p.Arg702His)	ABCF1 (R664H +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3308021	NM_001025091.2(ABCF1):c.2167C>T (p.Arg723Cys)	ABCF1 (R723C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2656335	NM_001025091.2(ABCF1):c.2248C>T (p.Arg750Ter)	ABCF1 (R712* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 207913	NM_001025091.2(ABCF1):c.2275C>T (p.Arg759Trp)	ABCF1 (R759W +1 more)	Single nucleotide variant (missense variant)	Long QT syndrome	GLikely benign
Select item 2458523	NM_001025091.2(ABCF1):c.2399G>A (p.Arg800Gln)	ABCF1 (R762Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609732	NM_001025091.2(ABCF1):c.2413A>G (p.Thr805Ala)	ABCF1 (T805A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339079	NM_001025091.2(ABCF1):c.2438A>T (p.Glu813Val)	ABCF1 (E775V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370411	NM_001025091.2(ABCF1):c.2533G>A (p.Glu845Lys)	ABCF1 (E807K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 974733	NC_000006.11:g.28005012_31683185del	ABCF1, ABHD16A +106 more	Deletion	Megacolon	GLikely pathogenic
Select item 625706	GRCh37/hg19 6p22.1-q14.1(chr6:29455465-81447367)	ERVH-3, ETV7 +427 more	Copy number gain	not provided	GPathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AARS2, ABCC10 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	RING1, RIOK1 +1028 more	Copy number gain	See cases	GPathogenic

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Items: 54