ClinVar for Gene (Select 92345) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3379569	NM_138386.3(NAF1):c.289_291dup (p.Thr97_Ser98insThr)	NAF1	Duplication	not provided	GUncertain significance
Select item 3376460	NM_138386.3(NAF1):c.227C>G (p.Ala76Gly)	NAF1 (A76G)	Single nucleotide variant (missense variant)	Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 7	GUncertain significance
Select item 3355634	NM_138386.3(NAF1):c.597G>A (p.Lys199=)	NAF1	Single nucleotide variant (synonymous variant)	NAF1-related disorder	GLikely benign
Select item 3352479	NM_138386.3(NAF1):c.524A>G (p.Asp175Gly)	NAF1 (D175G)	Single nucleotide variant (missense variant)	NAF1-related disorder	GUncertain significance
Select item 3298376	NM_138386.3(NAF1):c.329C>G (p.Ser110Cys)	NAF1 (S110C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3298375	NM_138386.3(NAF1):c.1172C>T (p.Pro391Leu)	NAF1 (P391L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3298374	NM_138386.3(NAF1):c.98G>T (p.Gly33Val)	NAF1 (G33V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3298373	NM_138386.3(NAF1):c.266C>G (p.Ser89Trp)	NAF1 (S89W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3298372	NM_138386.3(NAF1):c.236C>T (p.Pro79Leu)	NAF1 (P79L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3298371	NM_138386.3(NAF1):c.1273C>T (p.Pro425Ser)	NAF1 (P425S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3246775	NC_000004.11:g.(?_164050049)_(164087879_?)dup	NAF1	Duplication	not provided	GUncertain significance
Select item 3173466	NM_138386.3(NAF1):c.325G>T (p.Asp109Tyr)	NAF1 (D109Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173464	NM_138386.3(NAF1):c.310C>G (p.Pro104Ala)	NAF1 (P104A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173450	NM_138386.3(NAF1):c.155A>G (p.Asp52Gly)	NAF1 (D52G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062804	GRCh37/hg19 4q27-35.2(chr4:123399154-190957473)x3	FAT1, FAT4 +197 more	Copy number gain	not specified	GPathogenic
Select item 3062803	GRCh37/hg19 4q32.1-35.2(chr4:161589441-190957473)x1	AADAT, ACSL1 +85 more	Copy number loss	not specified	GPathogenic
Select item 3062767	GRCh37/hg19 4q24-35.2(chr4:101203509-190957473)x3	AADAT, ABCE1 +286 more	Copy number gain	not specified	GPathogenic
Select item 3053919	NM_138386.3(NAF1):c.750A>G (p.Pro250=)	NAF1	Single nucleotide variant (synonymous variant)	NAF1-related disorder	GLikely benign
Select item 3035670	NM_138386.3(NAF1):c.291C>T (p.Thr97=)	NAF1	Single nucleotide variant (synonymous variant)	NAF1-related disorder	GLikely benign
Select item 3030766	NM_138386.3(NAF1):c.261T>G (p.Ala87=)	NAF1	Single nucleotide variant (synonymous variant)	NAF1-related disorder	GLikely benign
Select item 3030733	NM_138386.3(NAF1):c.199C>T (p.Leu67=)	NAF1	Single nucleotide variant (synonymous variant)	NAF1-related disorder	GLikely benign
Select item 3029121	NM_138386.3(NAF1):c.1335A>G (p.Pro445=)	NAF1	Single nucleotide variant (synonymous variant +1 more)	NAF1-related disorder	GLikely benign
Select item 3024631	GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3	HPGDS, SCRG1 +537 more	Copy number gain	not provided	GPathogenic
Select item 3022960	NM_138386.3(NAF1):c.1030C>T (p.Pro344Ser)	NAF1 (P344S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3018250	NM_138386.3(NAF1):c.763C>T (p.Arg255Trp)	NAF1 (R255W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3016024	NM_138386.3(NAF1):c.365+10C>T	NAF1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3015748	NM_138386.3(NAF1):c.313G>T (p.Ala105Ser)	NAF1 (A105S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3015396	NM_138386.3(NAF1):c.1025A>G (p.Asn342Ser)	NAF1 (N342S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3014986	NM_138386.3(NAF1):c.1436C>T (p.Pro479Leu)	NAF1 (P479L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3014162	NM_138386.3(NAF1):c.304G>A (p.Ala102Thr)	NAF1 (A102T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3014135	NM_138386.3(NAF1):c.1051G>A (p.Val351Ile)	NAF1 (V351I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3000641	NM_138386.3(NAF1):c.336G>C (p.Glu112Asp)	NAF1 (E112D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2994773	NM_138386.3(NAF1):c.299G>A (p.Gly100Glu)	NAF1 (G100E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2988172	NM_138386.3(NAF1):c.232A>C (p.Thr78Pro)	NAF1 (T78P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2987474	NM_138386.3(NAF1):c.295C>T (p.Pro99Ser)	NAF1 (P99S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2987097	NM_138386.3(NAF1):c.1476T>C (p.Pro492=)	NAF1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2986391	NM_138386.3(NAF1):c.172G>A (p.Glu58Lys)	NAF1 (E58K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2985847	NM_138386.3(NAF1):c.705A>G (p.Gln235=)	NAF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2979668	NM_138386.3(NAF1):c.1339G>A (p.Val447Ile)	NAF1 (V447I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2978264	NM_138386.3(NAF1):c.1200T>G (p.His400Gln)	NAF1 (H400Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2973797	NM_138386.3(NAF1):c.197C>T (p.Pro66Leu)	NAF1 (P66L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2973156	NM_138386.3(NAF1):c.709G>T (p.Ala237Ser)	NAF1 (A237S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2967546	NM_138386.3(NAF1):c.1262A>G (p.Gln421Arg)	NAF1 (Q421R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2964150	NM_138386.3(NAF1):c.1310G>A (p.Arg437His)	NAF1 (R437H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2962077	NM_138386.3(NAF1):c.126G>A (p.Pro42=)	NAF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2961978	NM_138386.3(NAF1):c.579T>G (p.Pro193=)	NAF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2961812	NM_138386.3(NAF1):c.1434T>C (p.Pro478=)	NAF1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2958152	NM_138386.3(NAF1):c.878+14C>T	NAF1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2957112	NM_138386.3(NAF1):c.184G>T (p.Ala62Ser)	NAF1 (A62S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2956807	NM_138386.3(NAF1):c.635-14A>G	NAF1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2955163	NM_138386.3(NAF1):c.878+11T>C	NAF1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2917652	NM_138386.3(NAF1):c.311C>T (p.Pro104Leu)	NAF1 (P104L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2914489	NM_138386.3(NAF1):c.243G>A (p.Pro81=)	NAF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2908416	NM_138386.3(NAF1):c.57C>A (p.Thr19=)	NAF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2902544	NM_138386.3(NAF1):c.723C>T (p.Phe241=)	NAF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2899588	NM_138386.3(NAF1):c.243_248dup (p.Pro85_Pro86insGlnPro)	NAF1	Duplication (inframe_insertion)	not provided	GUncertain significance
Select item 2899169	NM_138386.3(NAF1):c.1089G>A (p.Glu363=)	NAF1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2894460	NM_138386.3(NAF1):c.1309C>T (p.Arg437Cys)	NAF1 (R437C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2893560	NM_138386.3(NAF1):c.1320C>G (p.Pro440=)	NAF1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2893271	NM_138386.3(NAF1):c.392C>T (p.Ser131Leu)	NAF1 (S131L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2890951	NM_138386.3(NAF1):c.1105C>T (p.Arg369Cys)	NAF1 (R369C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2890684	NM_138386.3(NAF1):c.1419C>T (p.Pro473=)	NAF1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2889095	NM_138386.3(NAF1):c.260C>T (p.Ala87Val)	NAF1 (A87V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2878046	NM_138386.3(NAF1):c.502A>G (p.Asn168Asp)	NAF1 (N168D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2874606	NM_138386.3(NAF1):c.783C>A (p.His261Gln)	NAF1 (H261Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2828902	NM_138386.3(NAF1):c.1033+18A>G	NAF1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2807596	NM_138386.3(NAF1):c.324G>A (p.Pro108=)	NAF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2805489	NM_138386.3(NAF1):c.656A>G (p.Asn219Ser)	NAF1 (N219S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2795105	NM_138386.3(NAF1):c.1073A>G (p.His358Arg)	NAF1 (H358R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2793191	NM_138386.3(NAF1):c.1412C>T (p.Pro471Leu)	NAF1 (P471L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2790298	NM_138386.3(NAF1):c.82G>A (p.Ala28Thr)	NAF1 (A28T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2787920	NM_138386.3(NAF1):c.1124G>A (p.Arg375Gln)	NAF1 (R375Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2787102	NM_138386.3(NAF1):c.388A>G (p.Ser130Gly)	NAF1 (S130G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2786324	NM_138386.3(NAF1):c.635-8T>C	NAF1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2784184	NM_138386.3(NAF1):c.1314T>G (p.Pro438=)	NAF1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2782815	NM_138386.3(NAF1):c.1402C>G (p.Leu468Val)	NAF1 (L468V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2779131	NM_138386.3(NAF1):c.344A>C (p.Asp115Ala)	NAF1 (D115A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2761050	NM_138386.3(NAF1):c.718-2A>G	NAF1	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 2755654	NM_138386.3(NAF1):c.744A>G (p.Ala248=)	NAF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2751721	NM_138386.3(NAF1):c.482A>G (p.Gln161Arg)	NAF1 (Q161R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2749823	NM_138386.3(NAF1):c.644A>C (p.Glu215Ala)	NAF1 (E215A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2732362	NM_138386.3(NAF1):c.764G>A (p.Arg255Gln)	NAF1 (R255Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2731700	NM_138386.3(NAF1):c.1276C>T (p.Leu426Phe)	NAF1 (L426F)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2723660	NM_138386.3(NAF1):c.373G>A (p.Asp125Asn)	NAF1 (D125N)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2720572	NM_138386.3(NAF1):c.52G>A (p.Gly18Ser)	NAF1 (G18S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2717821	NM_138386.3(NAF1):c.50A>G (p.Asn17Ser)	NAF1 (N17S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2715500	NM_138386.3(NAF1):c.574C>T (p.Leu192=)	NAF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2714904	NM_138386.3(NAF1):c.274T>C (p.Cys92Arg)	NAF1 (C92R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2712772	NM_138386.3(NAF1):c.610G>A (p.Val204Ile)	NAF1 (V204I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2711832	NM_138386.3(NAF1):c.86C>T (p.Ala29Val)	NAF1 (A29V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2704248	NM_138386.3(NAF1):c.1202T>C (p.Met401Thr)	NAF1 (M401T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2695989	NM_138386.3(NAF1):c.986C>A (p.Ser329Tyr)	NAF1 (S329Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2685986	GRCh37/hg19 4q26-32.3(chr4:117518683-168174703)x3	SPOCK3, SPRY1 +153 more	Copy number gain	not provided	GPathogenic
Select item 2636176	NM_138386.3(NAF1):c.49A>T (p.Asn17Tyr)	NAF1 (N17Y)	Single nucleotide variant (missense variant)	NAF1-related disorder	GUncertain significance
Select item 2634938	NM_138386.3(NAF1):c.568A>G (p.Ile190Val)	NAF1 (I190V)	Single nucleotide variant (missense variant)	NAF1-related disorder +1 more	GUncertain significance
Select item 2632667	NM_001128931.2(NAF1):c.1076C>T (p.Pro359Leu)	NAF1 (P359L)	Single nucleotide variant (missense variant)	NAF1-related disorder	GUncertain significance
Select item 2621429	NM_138386.3(NAF1):c.968C>G (p.Ala323Gly)	NAF1 (A323G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520146	NM_138386.3(NAF1):c.617G>A (p.Ser206Asn)	NAF1 (S206N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2501712	NM_138386.3(NAF1):c.956_957del (p.Lys319fs)	NAF1 (K319fs)	Deletion (frameshift variant)	Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 7	GPathogenic
Select item 2501711	NM_138386.3(NAF1):c.984dup (p.Ser329fs)	NAF1 (S329fs)	Duplication (frameshift variant)	Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 7	GPathogenic

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