"Ambry Genetics"[submitter] AND "AFG1L"[gene] - ClinVar

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

Search results

Items: 39

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 39