Related gene-specific medical variations for Gene (Select 64333) - ClinVar

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Items: 35

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3312539	NM_032496.4(ARHGAP9):c.760C>A (p.Pro254Thr)	ARHGAP9, LOC130008135 (P70T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 2190158	NM_004990.4(MARS1):c.89T>G (p.Ile30Ser)	ARHGAP9, MARS1 (I30S)	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 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)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency +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)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency +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 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 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]	MARS1, ARHGAP9	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 1186581	NM_004990.4(MARS1):c.31G>A (p.Gly11Ser)	ARHGAP9, MARS1 (G11S)	Single nucleotide variant (missense variant +1 more)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency +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)	MARS1, ARHGAP9 (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 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)	Charcot-Marie-Tooth disease axonal type 2U +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)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency +2 more	GLikely benign
Select item 424681	NM_004990.4(MARS1):c.-18C>T	ARHGAP9, MARS1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +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 386932	NM_004990.4(MARS1):c.42G>T (p.Pro14=)	ARHGAP9, MARS1	Single nucleotide variant (synonymous variant +1 more)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency +2 more	GLikely benign
Select item 120186	NM_004990.4(MARS1):c.13G>A (p.Val5Met)	ARHGAP9, MARS1 (V5M)	Single nucleotide variant (missense variant +1 more)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency +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

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Items: 35