4141[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	ACAD10, ACADS +4836 more	Copy number gain	See cases	GPathogenic
Select item 59019	GRCh38/hg38 12q13.3-14.2(chr12:57013355-63042498)x1	AGAP2, AGAP2-AS1 +199 more	Copy number loss	See cases	GPathogenic
Select item 59020	GRCh38/hg38 12q13.3-14.1(chr12:57041158-60273934)x1	AGAP2, AGAP2-AS1 +162 more	Copy number loss	See cases	GPathogenic
Select item 1230881	NC_000012.12:g.57487874del	ARHGAP9, MARS1	Deletion (intron variant)	not provided	GBenign
Select item 1221110	NC_000012.12:g.57487873_57487874del	ARHGAP9, MARS1	Deletion (intron variant)	not provided	GBenign
Select item 1199900	NC_000012.12:g.57487872_57487874del	ARHGAP9, MARS1	Deletion (intron variant)	not provided	GLikely benign
Select item 424681	NM_004990.4(MARS1):c.-18C>T	ARHGAP9, MARS1	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary spastic paraplegia +1 more	GUncertain significance
Select item 1681667	NM_004990.4(MARS1):c.2T>A (p.Met1Lys)	ARHGAP9, MARS1 (M1K)	Single nucleotide variant (missense variant +2 more)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency +1 more	GUncertain significance
Select item 1939722	NM_004990.4(MARS1):c.5G>C (p.Arg2Thr)	ARHGAP9, MARS1 (R2T)	Single nucleotide variant (missense variant +1 more)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency +1 more	GUncertain significance
Select item 120186	NM_004990.4(MARS1):c.13G>A (p.Val5Met)	ARHGAP9, MARS1 (V5M)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease axonal type 2U +1 more	GUncertain significance
Select item 423053	NM_004990.4(MARS1):c.20_22del (p.Asp7del)	ARHGAP9, MARS1 (D7del)	Deletion (intron variant)	not provided	GUncertain significance
Select item 717628	NM_004990.4(MARS1):c.27C>G (p.Val9=)	ARHGAP9, MARS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2923691	NM_004990.4(MARS1):c.30G>A (p.Pro10=)	ARHGAP9, MARS1	Single nucleotide variant (synonymous variant +1 more)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency +1 more	GLikely benign
Select item 2925127	NM_004990.4(MARS1):c.31G>C (p.Gly11Arg)	ARHGAP9, MARS1 (G11R)	Single nucleotide variant (missense variant +1 more)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency +1 more	GUncertain significance
Select item 1186581	NM_004990.4(MARS1):c.31G>A (p.Gly11Ser)	ARHGAP9, MARS1 (G11S)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease axonal type 2U +2 more	GUncertain significance
Select item 949640	NM_004990.4(MARS1):c.38T>C (p.Leu13Ser)	MARS1, ARHGAP9 (L13S)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease axonal type 2U +1 more	GUncertain significance
Select item 386932	NM_004990.4(MARS1):c.42G>T (p.Pro14=)	ARHGAP9, MARS1	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GLikely benign
Select item 707511	NM_004990.4(MARS1):c.46C>G (p.Leu16Val)	ARHGAP9, MARS1 (L16V)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease axonal type 2U +1 more	GLikely benign
Select item 475429	NM_004990.4(MARS1):c.66C>T (p.Ala22=)	ARHGAP9, MARS1	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GLikely benign
Select item 1681668	NM_004990.4(MARS1):c.67C>G (p.Arg23Gly)	ARHGAP9, MARS1 (R23G)	Single nucleotide variant (missense variant +1 more)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency +1 more	GUncertain significance
Select item 1681669	NM_004990.4(MARS1):c.68G>A (p.Arg23Gln)	ARHGAP9, MARS1 (R23Q)	Single nucleotide variant (missense variant +1 more)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency +1 more	GUncertain significance
Select item 1681670	NM_004990.4(MARS1):c.70G>A (p.Gly24Ser)	ARHGAP9, MARS1 (G24S)	Single nucleotide variant (missense variant +1 more)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency +1 more	GUncertain significance
Select item 2059873	NM_004990.4(MARS1):c.71G>C (p.Gly24Ala)	ARHGAP9, MARS1 (G24A)	Single nucleotide variant (missense variant +1 more)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency +1 more	GUncertain significance
Select item 1085350	NM_004990.4(MARS1):c.72C>T (p.Gly24=)	ARHGAP9, MARS1	Single nucleotide variant (synonymous variant +1 more)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency +1 more	GLikely benign
Select item 1965121	NM_004990.4(MARS1):c.73A>G (p.Arg25Gly)	ARHGAP9, MARS1 (R25G)	Single nucleotide variant (missense variant +1 more)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency +1 more	GUncertain significance
Select item 1800437	NM_004990.4(MARS1):c.79G>A (p.Glu27Lys)	MARS1, ARHGAP9 (E27K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1944205	NM_004990.4(MARS1):c.86T>C (p.Leu29Pro)	ARHGAP9, MARS1 (L29P)	Single nucleotide variant (missense variant +1 more)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency +1 more	GUncertain significance
Select item 1681671	NM_004990.4(MARS1):c.87C>T (p.Leu29=)	ARHGAP9, MARS1	Single nucleotide variant (synonymous variant +1 more)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency +1 more	GLikely benign
Select item 2190158	NM_004990.4(MARS1):c.89T>G (p.Ile30Ser)	ARHGAP9, MARS1 (I30S)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease axonal type 2U +1 more	GUncertain significance
Select item 475435	NM_004990.4(MARS1):c.95C>G (p.Thr32Ser)	ARHGAP9, MARS1 (T32S)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GUncertain significance
Select item 933333	NM_004990.4(MARS1):c.97del (p.Thr32_Val33insTer)	ARHGAP9, MARS1	Deletion (nonsense +1 more)	Charcot-Marie-Tooth disease axonal type 2U +1 more	GUncertain significance
Select item 1800020	NM_004990.4(MARS1):c.98T>C (p.Val33Ala)	ARHGAP9, MARS1 (V33A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1980062	NM_004990.4(MARS1):c.109G>A (p.Asp37Asn)	ARHGAP9, MARS1 (D37N)	Single nucleotide variant (missense variant +1 more)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency +1 more	GUncertain significance
Select item 1681672	NM_004990.4(MARS1):c.109+7GTGCTG[3]	ARHGAP9, MARS1	Microsatellite (intron variant)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency +1 more	GUncertain significance
Select item 2024890	NM_004990.4(MARS1):c.109+16_109+21del	ARHGAP9, MARS1	Microsatellite (intron variant)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency +1 more	GLikely benign
Select item 509988	NM_004990.4(MARS1):c.109+18G>C	ARHGAP9, MARS1	Single nucleotide variant (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 2023187	NM_004990.4(MARS1):c.109+19G>T	ARHGAP9, MARS1	Single nucleotide variant (intron variant)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency +1 more	GLikely benign
Select item 1257282	NM_004990.4(MARS1):c.109+112A>G	MARS1, ARHGAP9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1294405	NM_004990.4(MARS1):c.110-26T>A	MARS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1681673	NM_004990.4(MARS1):c.110-13A>T	MARS1	Single nucleotide variant (intron variant)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency +1 more	GLikely benign
Select item 507930	NM_004990.4(MARS1):c.110-10C>T	MARS1	Single nucleotide variant (intron variant)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency +2 more	GLikely benign
Select item 1681674	NM_004990.4(MARS1):c.110-5A>G	MARS1	Single nucleotide variant (intron variant)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency +1 more	GLikely benign
Select item 707175	NM_004990.4(MARS1):c.110-5A>C	MARS1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease axonal type 2U +1 more	GLikely benign
Select item 1800272	NM_004990.4(MARS1):c.112dup (p.Cys38fs)	MARS1 (C38fs)	Duplication (frameshift variant)	not specified	GUncertain significance
Select item 2942885	NM_004990.4(MARS1):c.115G>C (p.Val39Leu)	MARS1 (V39L)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2U +1 more	GUncertain significance
Select item 1681675	NM_004990.4(MARS1):c.115G>A (p.Val39Met)	MARS1 (V39M)	Single nucleotide variant (missense variant)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency +1 more	GUncertain significance
Select item 2227012	NM_004990.4(MARS1):c.118G>A (p.Val40Ile)	MARS1 (V40I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2126891	NM_004990.4(MARS1):c.119del (p.Val40fs)	MARS1 (V40fs)	Deletion (frameshift variant)	Charcot-Marie-Tooth disease axonal type 2U +1 more	GUncertain significance
Select item 2185767	NM_004990.4(MARS1):c.120C>T (p.Val40=)	MARS1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2U +1 more	GLikely benign
Select item 2126892	NM_004990.4(MARS1):c.123G>C (p.Pro41=)	MARS1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2U +1 more	GLikely benign
Select item 2143108	NM_004990.4(MARS1):c.126C>T (p.Phe42=)	MARS1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2U +1 more	GLikely benign
Select item 475414	NM_004990.4(MARS1):c.132C>T (p.Thr44=)	MARS1	Single nucleotide variant (synonymous variant)	not specified +2 more	GLikely benign
Select item 1800105	NM_004990.4(MARS1):c.134G>A (p.Arg45Gln)	MARS1 (R45Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2945493	NM_004990.4(MARS1):c.137C>G (p.Pro46Arg)	MARS1 (P46R)	Single nucleotide variant (missense variant)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency +1 more	GUncertain significance
Select item 542180	NM_004990.4(MARS1):c.144C>A (p.Val48=)	MARS1	Single nucleotide variant (synonymous variant)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency +1 more	GLikely benign
Select item 1012822	NM_004990.4(MARS1):c.147T>C (p.Pro49=)	MARS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1908844	NM_004990.4(MARS1):c.148G>A (p.Val50Ile)	MARS1 (V50I)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2U +1 more	GUncertain significance
Select item 944615	NM_004990.4(MARS1):c.163A>G (p.Ser55Gly)	MARS1 (S55G)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2U +1 more	GUncertain significance
Select item 2931050	NM_004990.4(MARS1):c.165C>G (p.Ser55Arg)	MARS1 (S55R)	Single nucleotide variant (missense variant)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency +1 more	GUncertain significance
Select item 1926207	NM_004990.4(MARS1):c.174C>T (p.Tyr58=)	MARS1	Single nucleotide variant (synonymous variant)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency +1 more	GLikely benign
Select item 3293347	NM_004990.4(MARS1):c.180C>A (p.Phe60Leu)	MARS1 (F60L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1114177	NM_004990.4(MARS1):c.180C>T (p.Phe60=)	MARS1	Single nucleotide variant (synonymous variant)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency +1 more	GLikely benign
Select item 1681676	NM_004990.4(MARS1):c.188G>A (p.Ser63Asn)	MARS1 (S63N)	Single nucleotide variant (missense variant)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency +1 more	GUncertain significance
Select item 2932274	NM_004990.4(MARS1):c.200G>A (p.Arg67Gln)	MARS1 (R67Q)	Single nucleotide variant (missense variant)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency +1 more	GUncertain significance
Select item 1681677	NM_004990.4(MARS1):c.200+4A>G	MARS1	Single nucleotide variant (intron variant)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency +1 more	GUncertain significance
Select item 2061208	NM_004990.4(MARS1):c.200+11G>A	MARS1	Single nucleotide variant (intron variant)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency +1 more	GLikely benign
Select item 2140116	NM_004990.4(MARS1):c.200+18G>A	MARS1	Single nucleotide variant (intron variant)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency +1 more	GLikely benign
Select item 2145879	NM_004990.4(MARS1):c.201-20G>A	MARS1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease axonal type 2U +1 more	GLikely benign
Select item 2069105	NM_004990.4(MARS1):c.201-16C>T	MARS1	Single nucleotide variant (intron variant)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency +1 more	GLikely benign
Select item 2946107	NM_004990.4(MARS1):c.201-14C>G	MARS1	Single nucleotide variant (intron variant)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency +1 more	GUncertain significance
Select item 1681678	NM_004990.4(MARS1):c.201-13T>C	MARS1	Single nucleotide variant (intron variant)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency +1 more	GLikely benign
Select item 669157	NM_004990.4(MARS1):c.201-10C>T	MARS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 757961	NM_004990.4(MARS1):c.201-7T>G	MARS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1681679	NM_004990.4(MARS1):c.201-3C>T	MARS1	Single nucleotide variant (intron variant)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency +1 more	GUncertain significance
Select item 1163539	NM_004990.4(MARS1):c.212del (p.Leu71fs)	MARS1 (L71fs)	Deletion (frameshift variant)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency +3 more	GConflicting classifications of pathogenicity
Select item 1799839	NM_004990.4(MARS1):c.224G>A (p.Trp75Ter)	MARS1 (W75*)	Single nucleotide variant (nonsense)	not specified	GPathogenic
Select item 2944711	NM_004990.4(MARS1):c.227A>C (p.Glu76Ala)	MARS1 (E76A)	Single nucleotide variant (missense variant)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency +1 more	GUncertain significance
Select item 618205	NM_004990.4(MARS1):c.228G>T (p.Glu76Asp)	MARS1 (E76D)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1681680	NM_004990.4(MARS1):c.231A>G (p.Gln77=)	MARS1	Single nucleotide variant (synonymous variant)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency +1 more	GLikely benign
Select item 1093376	NM_004990.4(MARS1):c.238C>T (p.Leu80Phe)	MARS1 (L80F)	Single nucleotide variant (missense variant)	not specified +2 more	GLikely benign
Select item 580648	NM_004990.4(MARS1):c.244A>C (p.Asn82His)	MARS1 (N82H)	Single nucleotide variant (missense variant)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency +1 more	GUncertain significance
Select item 1946571	NM_004990.4(MARS1):c.265G>A (p.Ala89Thr)	MARS1 (A89T)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2U +1 more	GUncertain significance
Select item 1681681	NM_004990.4(MARS1):c.266C>T (p.Ala89Val)	MARS1 (A89V)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 1681682	NM_004990.4(MARS1):c.273G>A (p.Glu91=)	MARS1	Single nucleotide variant (synonymous variant)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency +1 more	GLikely benign
Select item 1681683	NM_004990.4(MARS1):c.277C>T (p.Gln93Ter)	MARS1 (Q93*)	Single nucleotide variant (nonsense)	not specified +2 more	GUncertain significance
Select item 2946392	NM_004990.4(MARS1):c.279+5G>A	MARS1	Single nucleotide variant (intron variant)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency +1 more	GUncertain significance
Select item 2940582	NM_004990.4(MARS1):c.279+17G>A	MARS1	Single nucleotide variant (intron variant)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency +1 more	GLikely benign
Select item 1681684	NM_004990.4(MARS1):c.279+18G>A	MARS1	Single nucleotide variant (intron variant)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency +1 more	GLikely benign
Select item 514776	NM_004990.4(MARS1):c.280-18A>G	MARS1	Single nucleotide variant (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 380040	NM_004990.4(MARS1):c.280-14C>T	MARS1	Single nucleotide variant (intron variant)	not provided +4 more	GBenign/Likely benign
Select item 917140	NM_004990.4(MARS1):c.280-13C>T	MARS1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease +2 more	GLikely benign
Select item 1958702	NM_004990.4(MARS1):c.280-12C>A	MARS1	Single nucleotide variant (intron variant)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency +1 more	GLikely benign
Select item 2931561	NM_004990.4(MARS1):c.280C>T (p.Pro94Ser)	MARS1 (P94S)	Single nucleotide variant (missense variant)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency +1 more	GUncertain significance
Select item 2142745	NM_004990.4(MARS1):c.295G>T (p.Ala99Ser)	MARS1 (A99S)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2U +1 more	GUncertain significance
Select item 1681685	NM_004990.4(MARS1):c.298C>G (p.Leu100Val)	MARS1 (L100V)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 790851	NM_004990.4(MARS1):c.300G>T (p.Leu100=)	MARS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1681686	NM_004990.4(MARS1):c.303C>G (p.Tyr101Ter)	MARS1 (Y101*)	Single nucleotide variant (nonsense)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency +1 more	GUncertain significance
Select item 1800176	NM_004990.4(MARS1):c.308T>C (p.Leu103Ser)	MARS1 (L103S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2934116	NM_004990.4(MARS1):c.311T>A (p.Val104Glu)	MARS1 (V104E)	Single nucleotide variant (missense variant)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency +1 more	GUncertain significance
Select item 1799828	NM_004990.4(MARS1):c.314T>C (p.Val105Ala)	MARS1 (V105A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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