ClinVar for Gene (Select 246269) - ClinVar

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

Links from Gene

Items: 61

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 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 3274723	NM_145315.5(AFG1L):c.434T>C (p.Val145Ala)	AFG1L (V145A)	Single nucleotide variant (missense variant)	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 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 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 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 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 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 3092835	NM_145315.5(AFG1L):c.467A>G (p.Lys156Arg)	AFG1L (K156R)	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 3092828	NM_145315.5(AFG1L):c.416G>A (p.Gly139Asp)	AFG1L (G139D)	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 3092819	NM_145315.5(AFG1L):c.211G>A (p.Val71Ile)	AFG1L (V71I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3092813	NM_145315.5(AFG1L):c.160G>A (p.Glu54Lys)	AFG1L (E54K)	Single nucleotide variant (missense variant)	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 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 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 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 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 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 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 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 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 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 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 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 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 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 2532150	NM_145315.5(AFG1L):c.320A>G (p.Asp107Gly)	AFG1L (D107G)	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 2468188	NM_145315.5(AFG1L):c.166A>G (p.Met56Val)	AFG1L (M56V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 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 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
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 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 152877	GRCh38/hg38 6q21(chr6:107445281-110547907)x1	AFG1L, AK9 +104 more	Copy number loss	See cases	GPathogenic
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 148944	GRCh38/hg38 6q21-22.1(chr6:107370141-115827482)x1	AFG1L, AK9 +224 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

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: 61