AFG1L[gene] - ClinVar

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Items: 61

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150937	GRCh38/hg38 6q13-24.1(chr6:74382807-142040500)x3	LOC129996876, LOC129996877 +1449 more	Copy number gain	See cases	GPathogenic
Select item 150641	GRCh38/hg38 6q16.1-22.31(chr6:96609994-122161548)x1	AFG1L, AK9 +558 more	Copy number loss	See cases	GPathogenic
Select item 155160	GRCh38/hg38 6q16.3-22.31(chr6:100054889-120488154)x1	LOC126859762, LOC126859763 +460 more	Copy number loss	See cases	GPathogenic
Select item 145430	GRCh38/hg38 6q16.3-21(chr6:102356502-111049879)x1	AFG1L, AK9 +208 more	Copy number loss	See cases	GPathogenic
Select item 154178	GRCh38/hg38 6q16.3-21(chr6:103279465-113934239)x1	AFG1L, AK9 +297 more	Copy number loss	See cases	GPathogenic
Select item 153088	GRCh38/hg38 6q21-22.31(chr6:106503719-125781219)x1	AFG1L, AK9 +472 more	Copy number loss	See cases	GPathogenic
Select item 148944	GRCh38/hg38 6q21-22.1(chr6:107370141-115827482)x1	AFG1L, AK9 +224 more	Copy number loss	See cases	GPathogenic
Select item 152877	GRCh38/hg38 6q21(chr6:107445281-110547907)x1	AFG1L, AK9 +104 more	Copy number loss	See cases	GPathogenic
Select item 3274754	NM_145315.5(AFG1L):c.22T>G (p.Leu8Val)	AFG1L, LOC129996940 (L8V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2536835	NM_145315.5(AFG1L):c.38C>T (p.Pro13Leu)	AFG1L, LOC129996940 (P13L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3092839	NM_145315.5(AFG1L):c.78C>G (p.Cys26Trp)	AFG1L, LOC129996940 (C26W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3092851	NM_145315.5(AFG1L):c.86G>T (p.Trp29Leu)	AFG1L, LOC129996940 (W29L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3274751	NM_145315.5(AFG1L):c.119C>G (p.Pro40Arg)	AFG1L, LOC129996940 (P40R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3092809	NM_145315.5(AFG1L):c.155C>T (p.Thr52Ile)	AFG1L (T52I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092813	NM_145315.5(AFG1L):c.160G>A (p.Glu54Lys)	AFG1L (E54K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468188	NM_145315.5(AFG1L):c.166A>G (p.Met56Val)	AFG1L (M56V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3092814	NM_145315.5(AFG1L):c.167T>A (p.Met56Lys)	AFG1L (M56K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092819	NM_145315.5(AFG1L):c.211G>A (p.Val71Ile)	AFG1L (V71I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092822	NM_145315.5(AFG1L):c.218A>G (p.His73Arg)	AFG1L (H73R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532150	NM_145315.5(AFG1L):c.320A>G (p.Asp107Gly)	AFG1L (D107G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092828	NM_145315.5(AFG1L):c.416G>A (p.Gly139Asp)	AFG1L (G139D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092832	NM_145315.5(AFG1L):c.432G>A (p.Met144Ile)	AFG1L (M144I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274723	NM_145315.5(AFG1L):c.434T>C (p.Val145Ala)	AFG1L (V145A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092835	NM_145315.5(AFG1L):c.467A>G (p.Lys156Arg)	AFG1L (K156R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462790	NM_145315.5(AFG1L):c.478C>T (p.Arg160Trp)	AFG1L (R160W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494734	NM_145315.5(AFG1L):c.593C>G (p.Pro198Arg)	AFG1L (P198R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3274733	NM_145315.5(AFG1L):c.608T>C (p.Ile203Thr)	AFG1L (I203T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2539824	NM_145315.5(AFG1L):c.623G>A (p.Cys208Tyr)	AFG1L (C208Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3092838	NM_145315.5(AFG1L):c.738G>C (p.Arg246Ser)	AFG1L (R246S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3092841	NM_145315.5(AFG1L):c.815G>T (p.Cys272Phe)	AFG1L (C272F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2456962	NM_145315.5(AFG1L):c.836C>T (p.Ser279Phe)	AFG1L (S279F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2592382	NM_145315.5(AFG1L):c.851G>A (p.Arg284Gln)	AFG1L (R284Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3274765	NM_145315.5(AFG1L):c.875G>A (p.Gly292Glu)	AFG1L (G292E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3092853	NM_145315.5(AFG1L):c.913G>A (p.Ala305Thr)	AFG1L (A305T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3274759	NM_145315.5(AFG1L):c.975G>T (p.Arg325Ser)	AFG1L (R325S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2604915	NM_145315.5(AFG1L):c.986T>C (p.Val329Ala)	AFG1L (V329A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3092858	NM_145315.5(AFG1L):c.991G>T (p.Gly331Cys)	AFG1L (G331C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3092790	NM_145315.5(AFG1L):c.1016C>G (p.Ala339Gly)	AFG1L (A339G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3092793	NM_145315.5(AFG1L):c.1130C>T (p.Pro377Leu)	AFG1L (P377L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3092794	NM_145315.5(AFG1L):c.1156C>G (p.Gln386Glu)	AFG1L (Q386E)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2602614	NM_145315.5(AFG1L):c.1163G>A (p.Arg388Gln)	AFG1L (R388Q)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3092796	NM_145315.5(AFG1L):c.1208G>A (p.Arg403His)	AFG1L (R356H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3092800	NM_145315.5(AFG1L):c.1272G>C (p.Glu424Asp)	AFG1L (E377D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3092805	NM_145315.5(AFG1L):c.1312A>G (p.Ser438Gly)	AFG1L (S391G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3274743	NM_145315.5(AFG1L):c.1337C>T (p.Ser446Phe)	AFG1L (S399F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2591329	NM_145315.5(AFG1L):c.1388G>A (p.Arg463Gln)	AFG1L (R416Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2563051	NM_145315.5(AFG1L):c.1394C>T (p.Thr465Met)	AFG1L (T418M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3062920	GRCh37/hg19 6q21(chr6:107876812-109065741)x3	AFG1L, FOXO3 +6 more	Copy number gain	not specified	GUncertain significance
Select item 2685211	GRCh37/hg19 6q15-21(chr6:92468126-109410569)x1	AFG1L, ARMC2 +43 more	Copy number loss	not provided	GPathogenic
Select item 2425984	NC_000006.11:g.(?_107019871)_(110266416_?)del	AFG1L, AK9 +21 more	Deletion	not provided	GUncertain significance
Select item 1527266	GRCh37/hg19 6q15-22.2(chr6:92054891-118329651)	AFG1L, AK9 +98 more	Copy number loss	not specified	GPathogenic
Select item 1527263	GRCh37/hg19 6q14.3-22.31(chr6:85988428-120548687)	AFG1L, AK9 +138 more	Copy number loss	not specified	GPathogenic
Select item 981211	GRCh37/hg19 6q16.1-21(chr6:98949950-114533905)x1	PREP, QRSL1 +66 more	Copy number loss	Deletion 6q16 q21	GPathogenic
Select item 974790	GRCh37/hg19 6q16.3-22.1(chr6:101296547-117004249)x3	DSE, FAM229B +69 more	Copy number gain	Microcephaly +1 more	GPathogenic
Select item 563217	GRCh37/hg19 6q21(chr6:108325097-108908760)x1	OSTM1, FOXO3 +3 more	Copy number loss	not provided	GUncertain significance
Select item 563204	GRCh37/hg19 6q16.1-22.1(chr6:95549951-116684929)x1	AFG1L, AK9 +80 more	Copy number loss	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
Select item 443296	GRCh37/hg19 6q16.1-21(chr6:94202605-109878834)x1	ZBTB24, AFG1L +49 more	Copy number loss	See cases	GPathogenic
Select item 442063	GRCh37/hg19 6q16.1-21(chr6:97384446-110247755)x1	AFG1L, AK9 +44 more	Copy number loss	See cases	GPathogenic
Select item 254002	GRCh37/hg19 6q21(chr6:108278386-108831557)x3	SNX3, NR2E1 +3 more	Copy number gain	See cases	GUncertain significance

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Items: 61