92345[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58042	GRCh38/hg38 4q26-35.2(chr4:118065569-190042639)x3	AADAT, ABCE1 +1310 more	Copy number gain	See cases	GPathogenic
Select item 58043	GRCh38/hg38 4q27-35.2(chr4:121518223-190062270)x3	AADAT, ABCE1 +1245 more	Copy number gain	See cases	GPathogenic
Select item 149581	GRCh38/hg38 4q28.1-35.1(chr4:125432943-185761887)x3	QKILA, RAB33B +1102 more	Copy number gain	See cases	GPathogenic
Select item 148653	GRCh38/hg38 4q28.3-35.2(chr4:131985253-190095391)x3	LOC129993091, LOC129993092 +1068 more	Copy number gain	See cases	GPathogenic
Select item 155492	GRCh38/hg38 4q28.3-35.2(chr4:134935616-190036318)x3	LOC132090717, LOC132090718 +1051 more	Copy number gain	See cases	GPathogenic
Select item 147647	GRCh38/hg38 4q31.1-35.2(chr4:138510532-189963195)x3	LOC129993335, LOC129993336 +1026 more	Copy number gain	See cases	GPathogenic
Select item 146581	GRCh38/hg38 4q31.21-35.2(chr4:145042668-189975519)x3	AADAT, ABCE1 +903 more	Copy number gain	See cases	GPathogenic
Select item 58045	GRCh38/hg38 4q31.22-34.1(chr4:147317283-173675559)x3	LOC123493228, LOC123493229 +481 more	Copy number gain	See cases	GPathogenic
Select item 153493	GRCh38/hg38 4q32.1-33(chr4:155162982-170959553)x1	AADAT, ANP32C +243 more	Copy number loss	See cases	GPathogenic
Select item 155554	GRCh38/hg38 4q32.1-32.2(chr4:156499748-163386407)x3	LOC112939921, LOC121725192 +84 more	Copy number gain	See cases	GLikely pathogenic
Select item 147409	GRCh38/hg38 4q32.1-32.3(chr4:158387928-166845726)x3	ANP32C, APELA +130 more	Copy number gain	See cases	GPathogenic
Select item 152441	GRCh38/hg38 4q32.1-35.2(chr4:160757699-190091407)x3	AADAT, ACSL1 +553 more	Copy number gain	See cases	GPathogenic
Select item 155028	GRCh38/hg38 4q32.2-32.3(chr4:161590861-165734658)x3	ANP32C, APELA +65 more	Copy number gain	See cases	GUncertain significance
Select item 58048	GRCh38/hg38 4q32.2-32.3(chr4:161592038-165721577)x3	MIR578, MSMO1 +64 more	Copy number gain	See cases	GPathogenic
Select item 57053	GRCh38/hg38 4q32.2-35.2(chr4:162013220-189975519)x3	MTNR1A, NAF1 +535 more	Copy number gain	See cases	GPathogenic
Select item 59484	GRCh38/hg38 4q32.2-34.1(chr4:162723818-172501433)x1	AADAT, ANP32C +158 more	Copy number loss	See cases	GPathogenic
Select item 1695920	NM_001128931.2(NAF1):c.1132dup (p.Thr378fs)	NAF1 (T378fs)	Duplication (frameshift variant)	Pulmonary fibrosis	GLikely risk allele
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 1338133	NM_138386.3(NAF1):c.*10C>T	NAF1	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 1337037	NM_138386.3(NAF1):c.1478A>C (p.Tyr493Ser)	NAF1 (Y493S)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
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 2443186	NM_138386.3(NAF1):c.1462T>C (p.Ser488Pro)	NAF1 (S488P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2098256	NM_138386.3(NAF1):c.1442C>T (p.Pro481Leu)	NAF1 (P481L)	Single nucleotide variant (missense variant +1 more)	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 2961812	NM_138386.3(NAF1):c.1434T>C (p.Pro478=)	NAF1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 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 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 2150418	NM_138386.3(NAF1):c.1379C>G (p.Pro460Arg)	NAF1 (P460R)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2043821	NM_138386.3(NAF1):c.1375C>T (p.His459Tyr)	NAF1 (H459Y)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1922622	NM_138386.3(NAF1):c.1356T>A (p.Ala452=)	NAF1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1336132	NM_138386.3(NAF1):c.1348G>A (p.Gly450Ser)	NAF1 (G450S)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign/Likely 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 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 2893560	NM_138386.3(NAF1):c.1320C>G (p.Pro440=)	NAF1	Single nucleotide variant (synonymous variant +1 more)	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 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 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 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 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 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 2167588	NM_138386.3(NAF1):c.1233T>A (p.Ser411=)	NAF1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 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 1939874	NM_138386.3(NAF1):c.1187A>G (p.Tyr396Cys)	NAF1 (Y396C)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	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 2064251	NM_138386.3(NAF1):c.1163G>A (p.Gly388Asp)	NAF1 (G388D)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2202736	NM_138386.3(NAF1):c.1151G>A (p.Arg384Gln)	NAF1 (R384Q)	Single nucleotide variant (missense variant +1 more)	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 1695938	NM_138386.3(NAF1):c.1123C>T (p.Arg375Ter)	NAF1 (R375*)	Single nucleotide variant (nonsense +1 more)	Pulmonary fibrosis +1 more	GConflicting classifications of pathogenicity
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 1945245	NM_138386.3(NAF1):c.1104T>G (p.Tyr368Ter)	NAF1 (Y368*)	Single nucleotide variant (nonsense +1 more)	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 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 2066095	NM_138386.3(NAF1):c.1070C>T (p.Ala357Val)	NAF1 (A357V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1909322	NM_138386.3(NAF1):c.1070C>G (p.Ala357Gly)	NAF1 (A357G)	Single nucleotide variant (missense variant +1 more)	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 1946408	NM_138386.3(NAF1):c.1036G>A (p.Glu346Lys)	NAF1 (E346K)	Single nucleotide variant (missense variant +1 more)	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 2443184	NM_138386.3(NAF1):c.1033+1G>A	NAF1	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 1338525	NM_138386.3(NAF1):c.1033+1G>T	NAF1	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
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 3015396	NM_138386.3(NAF1):c.1025A>G (p.Asn342Ser)	NAF1 (N342S)	Single nucleotide variant (missense variant)	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 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
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 2062942	NM_138386.3(NAF1):c.966A>C (p.Glu322Asp)	NAF1 (E322D)	Single nucleotide variant (missense variant)	not provided	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 2094673	NM_138386.3(NAF1):c.930G>A (p.Glu310=)	NAF1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1337325	NM_138386.3(NAF1):c.886G>A (p.Gly296Arg)	NAF1 (G296R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1336662	NM_138386.3(NAF1):c.879-7C>G	NAF1	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 2958152	NM_138386.3(NAF1):c.878+14C>T	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 1336410	NM_138386.3(NAF1):c.878+7A>G	NAF1	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2024752	NM_138386.3(NAF1):c.857T>C (p.Ile286Thr)	NAF1 (I286T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1337137	NM_138386.3(NAF1):c.791G>A (p.Ser264Asn)	NAF1 (S264N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2001426	NM_138386.3(NAF1):c.784A>G (p.Ile262Val)	NAF1 (I262V)	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 2732362	NM_138386.3(NAF1):c.764G>A (p.Arg255Gln)	NAF1 (R255Q)	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 3053919	NM_138386.3(NAF1):c.750A>G (p.Pro250=)	NAF1	Single nucleotide variant (synonymous variant)	NAF1-related disorder	GLikely benign
Select item 2755654	NM_138386.3(NAF1):c.744A>G (p.Ala248=)	NAF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1968004	NM_138386.3(NAF1):c.735A>G (p.Gly245=)	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 2761050	NM_138386.3(NAF1):c.718-2A>G	NAF1	Single nucleotide variant (splice acceptor 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 2985847	NM_138386.3(NAF1):c.705A>G (p.Gln235=)	NAF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1695944	NM_138386.3(NAF1):c.701G>C (p.Arg234Pro)	NAF1 (R234P)	Single nucleotide variant (missense variant)	Pulmonary fibrosis	GLikely risk allele
Select item 2443185	NM_138386.3(NAF1):c.691A>T (p.Lys231Ter)	NAF1 (K231*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
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 2022941	NM_138386.3(NAF1):c.653C>G (p.Thr218Ser)	NAF1 (T218S)	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 2786324	NM_138386.3(NAF1):c.635-8T>C	NAF1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2956807	NM_138386.3(NAF1):c.635-14A>G	NAF1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1695948	NM_138386.3(NAF1):c.634+1G>T	NAF1	Single nucleotide variant (splice donor variant)	Pulmonary fibrosis	GLikely risk allele
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 2712772	NM_138386.3(NAF1):c.610G>A (p.Val204Ile)	NAF1 (V204I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2337810	NM_138386.3(NAF1):c.601C>T (p.Leu201Phe)	NAF1 (L201F)	Single nucleotide variant (missense variant)	not specified	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 2213527	NM_138386.3(NAF1):c.584A>T (p.Asp195Val)	NAF1 (D195V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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