ClinVar for MedGen (Select 1778114) - ClinVar

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Items: 35

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3065738	NM_012414.4(RAB3GAP2):c.3645+1del	RAB3GAP2	Deletion (splice donor variant)	Martsolf syndrome 1	GLikely pathogenic
Select item 2412696	NM_012414.4(RAB3GAP2):c.2287_2291del (p.Ala762_Gly763insTer)	RAB3GAP2	Deletion (nonsense)	Martsolf syndrome 1	GLikely pathogenic
Select item 1805398	NM_012414.4(RAB3GAP2):c.1434G>C (p.Trp478Cys)	RAB3GAP2 (W478C)	Single nucleotide variant (missense variant)	Martsolf syndrome 1	GUncertain significance
Select item 1805391	NM_012414.4(RAB3GAP2):c.574A>G (p.Thr192Ala)	RAB3GAP2 (T192A)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1679926	NM_004491.5(ARHGAP35):c.3992C>T (p.Pro1331Leu)	ARHGAP35 (P1331L)	Single nucleotide variant (missense variant)	Martsolf syndrome 1	GUncertain significance
Select item 1679925	NM_004491.5(ARHGAP35):c.3850C>T (p.Arg1284Trp)	ARHGAP35 (R1284W)	Single nucleotide variant (missense variant)	Martsolf syndrome 1	GLikely pathogenic
Select item 1679924	NM_004491.5(ARHGAP35):c.1800_1803del (p.Val601fs)	ARHGAP35 (V601fs)	Deletion (frameshift variant)	Martsolf syndrome 1	GLikely pathogenic
Select item 1679923	NM_004491.5(ARHGAP35):c.516del (p.Asn173fs)	ARHGAP35 (N173fs)	Deletion (frameshift variant)	Martsolf syndrome 1	GLikely pathogenic
Select item 1679922	NM_004491.5(ARHGAP35):c.352A>T (p.Lys118Ter)	ARHGAP35 (K118*)	Single nucleotide variant (nonsense)	Martsolf syndrome 1	GLikely pathogenic
Select item 1679921	NM_004491.5(ARHGAP35):c.345del (p.Tyr116fs)	ARHGAP35 (Y116fs)	Deletion (frameshift variant)	Martsolf syndrome 1	GLikely pathogenic
Select item 1679920	NM_004491.5(ARHGAP35):c.325C>T (p.Arg109Ter)	ARHGAP35 (R109*)	Single nucleotide variant (nonsense)	Martsolf syndrome 1	GLikely pathogenic
Select item 1679919	NM_006086.4(TUBB3):c.1031G>A (p.Trp344Ter)	TUBB3 (W272* +1 more)	Single nucleotide variant (nonsense)	Martsolf syndrome 1	GUncertain significance
Select item 1679918	NM_175737.4(KLB):c.878A>T (p.Lys293Met)	KLB (K293M)	Single nucleotide variant (missense variant)	Martsolf syndrome 1	GUncertain significance
Select item 1679917	NM_175737.4(KLB):c.3086A>T (p.Lys1029Ile)	KLB (K1029I)	Single nucleotide variant (missense variant)	Martsolf syndrome 1	GUncertain significance
Select item 1679916	NM_178822.5(IGSF10):c.182G>A (p.Arg61His)	IGSF10 (R61H)	Single nucleotide variant (missense variant)	Martsolf syndrome 1 +1 more	GUncertain significance
Select item 1679915	NM_023110.3(FGFR1):c.2182G>A (p.Glu728Lys)	FGFR1 (E635K +7 more)	Single nucleotide variant (missense variant)	Martsolf syndrome 1 +1 more	GUncertain significance
Select item 1679914	NM_001030055.2(ARHGAP5):c.1504del (p.Tyr502fs)	ARHGAP5 (Y502fs)	Deletion (frameshift variant)	Martsolf syndrome 1	GUncertain significance
Select item 1679913	NM_004491.5(ARHGAP35):c.3569_3570del (p.Glu1190fs)	ARHGAP35 (E1190fs)	Microsatellite (frameshift variant)	Martsolf syndrome 1	GLikely pathogenic
Select item 1679912	NM_001030055.2(ARHGAP5):c.2366dup (p.Phe790fs)	ARHGAP5 (F790fs)	Duplication (frameshift variant)	Martsolf syndrome 1	GLikely pathogenic
Select item 1679911	NM_004491.5(ARHGAP35):c.4018G>A (p.Asp1340Asn)	ARHGAP35 (D1340N)	Single nucleotide variant (missense variant)	Martsolf syndrome 1	GLikely benign
Select item 1679910	NM_004491.5(ARHGAP35):c.4255C>T (p.Arg1419Cys)	ARHGAP35 (R1419C)	Single nucleotide variant (missense variant)	Martsolf syndrome 1	GUncertain significance
Select item 1679909	NM_004491.5(ARHGAP35):c.3283_3286delinsT (p.Val1095_Lys1096delinsTer)	ARHGAP35	Indel (nonsense)	Martsolf syndrome 1	GLikely pathogenic
Select item 1679908	NM_004491.5(ARHGAP35):c.2565C>A (p.Tyr855Ter)	ARHGAP35 (Y855*)	Single nucleotide variant (nonsense)	Martsolf syndrome 1	GLikely pathogenic
Select item 1679907	NM_004491.5(ARHGAP35):c.4297C>G (p.Pro1433Ala)	ARHGAP35 (P1433A)	Single nucleotide variant (missense variant)	Martsolf syndrome 1	GLikely benign
Select item 1679906	NM_004491.5(ARHGAP35):c.4240G>A (p.Ala1414Thr)	ARHGAP35 (A1414T)	Single nucleotide variant (missense variant)	Martsolf syndrome 1	GLikely benign
Select item 1679905	NM_004491.5(ARHGAP35):c.4235T>C (p.Met1412Thr)	ARHGAP35 (M1412T)	Single nucleotide variant (missense variant)	Martsolf syndrome 1	GUncertain significance
Select item 1679904	NM_004491.5(ARHGAP35):c.4105C>G (p.His1369Asp)	ARHGAP35 (H1369D)	Single nucleotide variant (missense variant)	Martsolf syndrome 1	GUncertain significance
Select item 1679903	NM_004491.5(ARHGAP35):c.4049G>A (p.Arg1350Gln)	ARHGAP35 (R1350Q)	Single nucleotide variant (missense variant)	Martsolf syndrome 1	GUncertain significance
Select item 1173051	NM_012414.4(RAB3GAP2):c.1955T>A (p.Leu652Ter)	RAB3GAP2 (L652*)	Single nucleotide variant (nonsense)	Martsolf syndrome 1	GPathogenic
Select item 1173050	NM_012414.4(RAB3GAP2):c.2488C>T (p.Gln830Ter)	RAB3GAP2 (Q830*)	Single nucleotide variant (nonsense)	Martsolf syndrome 1	GPathogenic
Select item 295655	NM_012414.4(RAB3GAP2):c.1960T>C (p.Ser654Pro)	RAB3GAP2 (S654P)	Single nucleotide variant (missense variant)	Martsolf syndrome +3 more	GUncertain significance
Select item 265206	NM_000216.4(ANOS1):c.1891C>T (p.Arg631Ter)	ANOS1 (R631*)	Single nucleotide variant (nonsense)	Hypogonadotropic hypogonadism 1 with or without anosmia +2 more	GPathogenic
Select item 100787	NM_012414.4(RAB3GAP2):c.1276C>T (p.Arg426Cys)	RAB3GAP2 (R426C)	Single nucleotide variant (missense variant)	Warburg micro syndrome 2 +1 more	GPathogenic/Likely pathogenic
Select item 68834	NM_006080.3(SEMA3A):c.2189G>A (p.Arg730Gln)	SEMA3A (R730Q)	Single nucleotide variant (missense variant)	Martsolf syndrome 1	GUncertain significance
Select item 1820	NM_012414.4(RAB3GAP2):c.3154G>T (p.Gly1052Cys)	RAB3GAP2 (G1052C)	Single nucleotide variant (missense variant)	Martsolf syndrome 1	GPathogenic

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Items: 35