ClinVar for Gene (Select 64333) - ClinVar

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Items: 76

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3128986	NM_032496.4(ARHGAP9):c.745C>A (p.Arg249Ser)	ARHGAP9 (R249S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3128985	NM_032496.4(ARHGAP9):c.734C>T (p.Pro245Leu)	ARHGAP9 (P61L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3064013	NM_032496.4(ARHGAP9):c.1116+13G>C	ARHGAP9	Single nucleotide variant (intron variant)	not specified	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 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 2620687	NM_032496.4(ARHGAP9):c.764G>A (p.Gly255Asp)	ARHGAP9, LOC130008135 (G71D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2615829	NM_032496.4(ARHGAP9):c.844G>A (p.Gly282Arg)	ARHGAP9 (G282R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2601882	NM_032496.4(ARHGAP9):c.406C>A (p.Pro136Thr)	ARHGAP9 (P136T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601336	NM_032496.4(ARHGAP9):c.1030A>G (p.Asn344Asp)	ARHGAP9 (N129D +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593297	NM_032496.4(ARHGAP9):c.1835C>T (p.Thr612Ile)	ARHGAP9 (T397I +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2569792	NM_032496.4(ARHGAP9):c.592C>T (p.Arg198Cys)	ARHGAP9 (R198C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2556998	NM_032496.4(ARHGAP9):c.1950G>C (p.Gln650His)	ARHGAP9 (Q339H +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2555042	NM_032496.4(ARHGAP9):c.999G>T (p.Lys333Asn)	ARHGAP9 (K149N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553404	NM_032496.4(ARHGAP9):c.941C>G (p.Pro314Arg)	ARHGAP9 (P314R +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2545603	NM_032496.4(ARHGAP9):c.2099G>A (p.Arg700Gln)	ARHGAP9 (R389Q +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2526409	NM_032496.4(ARHGAP9):c.2192C>G (p.Pro731Arg)	ARHGAP9 (P545R +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2498574	GRCh37/hg19 12q13.3-14.1(chr12:57064059-59314016)x1	AGAP2, ARHGAP9 +45 more	Copy number loss	not provided	GLikely pathogenic
Select item 2479939	NM_032496.4(ARHGAP9):c.994A>T (p.Thr332Ser)	ARHGAP9 (T332S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468979	NM_032496.4(ARHGAP9):c.1177G>A (p.Gly393Ser)	ARHGAP9 (G209S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463144	NM_032496.4(ARHGAP9):c.1988A>G (p.His663Arg)	ARHGAP9 (H352R +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2422308	NC_000012.11:g.(?_57534470)_(58190366_?)dup	AGAP2, ARHGAP9 +27 more	Duplication	Familial melanoma	GUncertain significance
Select item 2411104	NM_032496.4(ARHGAP9):c.1672T>A (p.Tyr558Asn)	ARHGAP9 (Y577N +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410083	NM_032496.4(ARHGAP9):c.484G>A (p.Gly162Arg)	ARHGAP9 (G162R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286377	NM_032496.4(ARHGAP9):c.512C>T (p.Pro171Leu)	ARHGAP9 (P171L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2271005	NM_032496.4(ARHGAP9):c.2104G>C (p.Glu702Gln)	ARHGAP9 (E391Q +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2261812	NM_032496.4(ARHGAP9):c.1675C>T (p.Arg559Trp)	ARHGAP9 (R248W +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254398	NM_032496.4(ARHGAP9):c.1478T>C (p.Val493Ala)	ARHGAP9 (V182A +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250527	NM_032496.4(ARHGAP9):c.1454C>T (p.Pro485Leu)	ARHGAP9 (P320L +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245639	NM_032496.4(ARHGAP9):c.320C>T (p.Pro107Leu)	ARHGAP9 (P107L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243771	NM_032496.4(ARHGAP9):c.977C>T (p.Ser326Leu)	ARHGAP9 (S142L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2224695	NM_032496.4(ARHGAP9):c.1457A>C (p.Glu486Ala)	ARHGAP9 (E271A +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2190158	NM_004990.4(MARS1):c.89T>G (p.Ile30Ser)	MARS1, ARHGAP9 (I30S)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease axonal type 2U +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 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 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 1980062	NM_004990.4(MARS1):c.109G>A (p.Asp37Asn)	ARHGAP9, MARS1 (D37N)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease axonal type 2U +1 more	GUncertain significance
Select item 1965121	NM_004990.4(MARS1):c.73A>G (p.Arg25Gly)	ARHGAP9, MARS1 (R25G)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease axonal type 2U +1 more	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 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 1808720	GRCh37/hg19 12q13.3-14.1(chr12:57631073-58236597)x1	AGAP2, ARHGAP9 +27 more	Copy number loss	not provided	GLikely pathogenic
Select item 1800437	NM_004990.4(MARS1):c.79G>A (p.Glu27Lys)	ARHGAP9, MARS1 (E27K)	Single nucleotide variant (missense variant +1 more)	not specified	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 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 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 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 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 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 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 1257282	NM_004990.4(MARS1):c.109+112A>G	ARHGAP9, MARS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1230881	NM_001319850.2(ARHGAP9):c.-204+761del	ARHGAP9, MARS1	Deletion (intron variant)	not provided	GBenign
Select item 1221110	NM_001319850.2(ARHGAP9):c.-204+760_-204+761del	ARHGAP9, MARS1	Deletion (intron variant)	not provided	GBenign
Select item 1199900	NM_001319850.2(ARHGAP9):c.-204+759_-204+761del	ARHGAP9, MARS1	Deletion (intron variant)	not provided	GLikely benign
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 1085350	NM_004990.4(MARS1):c.72C>T (p.Gly24=)	ARHGAP9, MARS1	Single nucleotide variant (synonymous variant +1 more)	Charcot-Marie-Tooth disease axonal type 2U +1 more	GLikely benign
Select item 949640	NM_004990.4(MARS1):c.38T>C (p.Leu13Ser)	ARHGAP9, MARS1 (L13S)	Single nucleotide variant (missense variant +1 more)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency +1 more	GUncertain significance
Select item 933333	NM_004990.4(MARS1):c.97del (p.Thr32_Val33insTer)	ARHGAP9, MARS1	Deletion (nonsense +1 more)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency +1 more	GUncertain significance
Select item 815529	GRCh37/hg19 12q13.3-14.1(chr12:57582163-59031979)x1	AGAP2, ARHGAP9 +31 more	Copy number loss	not provided	GLikely pathogenic
Select item 815528	GRCh37/hg19 12q13.2-14.1(chr12:55552371-62126304)x3	AGAP2, ANKRD52 +105 more	Copy number gain	not provided	GPathogenic
Select item 773024	NM_032496.4(ARHGAP9):c.207T>G (p.Ala69=)	ARHGAP9	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 707511	NM_004990.4(MARS1):c.46C>G (p.Leu16Val)	ARHGAP9, MARS1 (L16V)	Single nucleotide variant (missense variant +1 more)	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)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency +2 more	GBenign/Likely benign
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 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 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	DBX2, DCD +1006 more	Copy number gain	See cases	GPathogenic
Select item 424681	NM_004990.4(MARS1):c.-18C>T	MARS1, ARHGAP9	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary spastic paraplegia	GUncertain significance
Select item 423053	NM_004990.4(MARS1):c.20_22del (p.Asp7del)	ARHGAP9, MARS1 (D7del)	Deletion (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 386932	NM_004990.4(MARS1):c.42G>T (p.Pro14=)	ARHGAP9, MARS1	Single nucleotide variant (synonymous variant +1 more)	Charcot-Marie-Tooth disease axonal type 2U +2 more	GLikely benign
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	AGAP2, ARF3 +1007 more	Copy number gain	See cases	GPathogenic
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	LOC130008916, LOC130008917 +4836 more	Copy number gain	See cases	GPathogenic
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 92019	NM_032496.4(ARHGAP9):c.409C>T (p.Arg137Cys)	ARHGAP9 (R137C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 59019	GRCh38/hg38 12q13.3-14.2(chr12:57013355-63042498)x1	AGAP2, AGAP2-AS1 +199 more	Copy number loss	See cases	GPathogenic
Select item 1189	NM_032496.4(ARHGAP9):c.1108T>G (p.Ser370Ala)	ARHGAP9 (S186A +3 more)	Single nucleotide variant (missense variant)	Coronary artery spasm 3, susceptibility to	GUncertain significance

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Items: 76