Related gene-specific medical variations for Gene (Select 9737) - ClinVar

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Links from Gene

Items: 67

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3235850	NM_001184727.2(GPRASP1):c.327_330del (p.Arg110fs)	ARMCX5-GPRASP2, GPRASP1 (R110fs)	Microsatellite (frameshift variant +1 more)	not provided	GUncertain significance
Select item 3101923	NM_001184727.2(GPRASP1):c.737A>G (p.Tyr246Cys)	ARMCX5-GPRASP2, GPRASP1 (Y246C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3101922	NM_001184727.2(GPRASP1):c.622G>A (p.Glu208Lys)	ARMCX5-GPRASP2, GPRASP1 (E208K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3101921	NM_001184727.2(GPRASP1):c.4153A>C (p.Asn1385His)	ARMCX5-GPRASP2, GPRASP1 (N1385H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3101920	NM_001184727.2(GPRASP1):c.4138C>A (p.Gln1380Lys)	ARMCX5-GPRASP2, GPRASP1 (Q1380K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3101919	NM_001184727.2(GPRASP1):c.4067C>T (p.Ser1356Phe)	ARMCX5-GPRASP2, GPRASP1 (S1356F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3101918	NM_001184727.2(GPRASP1):c.4029G>C (p.Glu1343Asp)	ARMCX5-GPRASP2, GPRASP1 (E1343D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3101917	NM_001184727.2(GPRASP1):c.3755C>T (p.Pro1252Leu)	ARMCX5-GPRASP2, GPRASP1 (P1252L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3101916	NM_001184727.2(GPRASP1):c.371C>T (p.Thr124Ile)	ARMCX5-GPRASP2, GPRASP1 (T124I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3101915	NM_001184727.2(GPRASP1):c.3256C>T (p.Pro1086Ser)	ARMCX5-GPRASP2, GPRASP1 (P1086S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3101914	NM_001184727.2(GPRASP1):c.3031G>A (p.Glu1011Lys)	ARMCX5-GPRASP2, GPRASP1 (E1011K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3101913	NM_001184727.2(GPRASP1):c.2551G>A (p.Glu851Lys)	ARMCX5-GPRASP2, GPRASP1 (E851K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3101912	NM_001184727.2(GPRASP1):c.21G>C (p.Glu7Asp)	ARMCX5-GPRASP2, GPRASP1 (E7D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3101911	NM_001184727.2(GPRASP1):c.2180C>T (p.Thr727Ile)	ARMCX5-GPRASP2, GPRASP1 (T727I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3101910	NM_001184727.2(GPRASP1):c.2176G>C (p.Ala726Pro)	ARMCX5-GPRASP2, GPRASP1 (A726P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3101909	NM_001184727.2(GPRASP1):c.1958G>A (p.Ser653Asn)	ARMCX5-GPRASP2, GPRASP1 (S653N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3101908	NM_001184727.2(GPRASP1):c.1943C>T (p.Ala648Val)	ARMCX5-GPRASP2, GPRASP1 (A648V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3101906	NM_001184727.2(GPRASP1):c.1652G>A (p.Gly551Asp)	ARMCX5-GPRASP2, GPRASP1 (G551D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3101905	NM_001184727.2(GPRASP1):c.1617G>T (p.Glu539Asp)	ARMCX5-GPRASP2, GPRASP1 (E539D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3101904	NM_001184727.2(GPRASP1):c.1543G>A (p.Glu515Lys)	ARMCX5-GPRASP2, GPRASP1 (E515K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3101903	NM_001184727.2(GPRASP1):c.1358G>C (p.Ser453Thr)	ARMCX5-GPRASP2, GPRASP1 (S453T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3101902	NM_001184727.2(GPRASP1):c.1300A>G (p.Ile434Val)	ARMCX5-GPRASP2, GPRASP1 (I434V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3101901	NM_001184727.2(GPRASP1):c.11C>A (p.Ala4Glu)	ARMCX5-GPRASP2, GPRASP1 (A4E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3101899	NM_001184727.2(GPRASP1):c.1057A>G (p.Lys353Glu)	ARMCX5-GPRASP2, GPRASP1 (K353E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3043366	NM_001184727.2(GPRASP1):c.1800T>G (p.Cys600Trp)	ARMCX5-GPRASP2, GPRASP1 (C600W)	Single nucleotide variant (missense variant +1 more)	GPRASP1-related disorder	GUncertain significance
Select item 2661083	NM_001184727.2(GPRASP1):c.2204C>T (p.Thr735Ile)	ARMCX5-GPRASP2, GPRASP1 (T735I)	Single nucleotide variant (missense variant +1 more)	GPRASP1-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 2661082	NM_001184727.2(GPRASP1):c.2064C>T (p.Ala688=)	ARMCX5-GPRASP2, GPRASP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2661081	NM_001184727.2(GPRASP1):c.1698C>T (p.Ile566=)	ARMCX5-GPRASP2, GPRASP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2661080	NM_001184727.2(GPRASP1):c.972G>A (p.Gly324=)	GPRASP1, ARMCX5-GPRASP2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2661079	NM_001184727.2(GPRASP1):c.783C>G (p.Pro261=)	ARMCX5-GPRASP2, GPRASP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2621296	NM_001184727.2(GPRASP1):c.2405G>A (p.Arg802Lys)	ARMCX5-GPRASP2, GPRASP1 (R802K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2616696	NM_001184727.2(GPRASP1):c.3623C>T (p.Pro1208Leu)	ARMCX5-GPRASP2, GPRASP1 (P1208L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2601757	NM_001184727.2(GPRASP1):c.1682A>G (p.Asp561Gly)	ARMCX5-GPRASP2, GPRASP1 (D561G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2556604	NM_001184727.2(GPRASP1):c.931G>A (p.Ala311Thr)	ARMCX5-GPRASP2, GPRASP1 (A311T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2536328	NM_001184727.2(GPRASP1):c.3806A>T (p.Asp1269Val)	ARMCX5-GPRASP2, GPRASP1 (D1269V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2535114	NM_001184727.2(GPRASP1):c.4162G>A (p.Asp1388Asn)	ARMCX5-GPRASP2, GPRASP1 (D1388N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2534051	NM_001184727.2(GPRASP1):c.286G>A (p.Ala96Thr)	ARMCX5-GPRASP2, GPRASP1 (A96T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2527387	NM_001184727.2(GPRASP1):c.857G>A (p.Arg286Lys)	ARMCX5-GPRASP2, GPRASP1 (R286K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2516205	NM_001184727.2(GPRASP1):c.655G>A (p.Val219Ile)	ARMCX5-GPRASP2, GPRASP1 (V219I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2510864	NM_001184727.2(GPRASP1):c.223C>T (p.Arg75Cys)	ARMCX5-GPRASP2, GPRASP1 (R75C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2476751	NM_001184727.2(GPRASP1):c.368G>T (p.Ser123Ile)	ARMCX5-GPRASP2, GPRASP1 (S123I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2470954	NM_001184727.2(GPRASP1):c.816G>T (p.Trp272Cys)	ARMCX5-GPRASP2, GPRASP1 (W272C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2470645	NM_001184727.2(GPRASP1):c.3086C>G (p.Thr1029Arg)	ARMCX5-GPRASP2, GPRASP1 (T1029R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2470403	NM_001184727.2(GPRASP1):c.3896T>C (p.Met1299Thr)	ARMCX5-GPRASP2, GPRASP1 (M1299T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2469297	NM_001184727.2(GPRASP1):c.3334C>A (p.Pro1112Thr)	ARMCX5-GPRASP2, GPRASP1 (P1112T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2384249	NM_001184727.2(GPRASP1):c.1808T>C (p.Met603Thr)	ARMCX5-GPRASP2, GPRASP1 (M603T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2375426	NM_001184727.2(GPRASP1):c.379G>C (p.Val127Leu)	ARMCX5-GPRASP2, GPRASP1 (V127L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2372901	NM_001184727.2(GPRASP1):c.1547C>G (p.Thr516Ser)	ARMCX5-GPRASP2, GPRASP1 (T516S)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2352335	NM_001184727.2(GPRASP1):c.1108A>T (p.Met370Leu)	ARMCX5-GPRASP2, GPRASP1 (M370L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2351188	NM_001184727.2(GPRASP1):c.2446G>T (p.Gly816Trp)	ARMCX5-GPRASP2, GPRASP1 (G816W)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2332709	NM_001184727.2(GPRASP1):c.3665G>A (p.Arg1222His)	ARMCX5-GPRASP2, GPRASP1 (R1222H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2301405	NM_001184727.2(GPRASP1):c.1754G>C (p.Trp585Ser)	ARMCX5-GPRASP2, GPRASP1 (W585S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2301246	NM_001184727.2(GPRASP1):c.2897G>A (p.Gly966Glu)	ARMCX5-GPRASP2, GPRASP1 (G966E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2285627	NM_001184727.2(GPRASP1):c.2666C>T (p.Ala889Val)	ARMCX5-GPRASP2, GPRASP1 (A889V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2261418	NM_001184727.2(GPRASP1):c.1652G>T (p.Gly551Val)	ARMCX5-GPRASP2, GPRASP1 (G551V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2237690	NM_001184727.2(GPRASP1):c.1691C>G (p.Ala564Gly)	ARMCX5-GPRASP2, GPRASP1 (A564G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2233269	NM_001184727.2(GPRASP1):c.2162G>A (p.Gly721Glu)	ARMCX5-GPRASP2, GPRASP1 (G721E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2229911	NM_001184727.2(GPRASP1):c.3722G>T (p.Cys1241Phe)	ARMCX5-GPRASP2, GPRASP1 (C1241F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2206743	NM_001184727.2(GPRASP1):c.1156A>C (p.Lys386Gln)	ARMCX5-GPRASP2, GPRASP1 (K386Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2204792	NM_001184727.2(GPRASP1):c.1679T>C (p.Val560Ala)	ARMCX5-GPRASP2, GPRASP1 (V560A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1299435	NM_001184727.2(GPRASP1):c.197T>A (p.Val66Asp)	GPRASP1, ARMCX5-GPRASP2 (V66D)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1206314	NM_001184727.2(GPRASP1):c.1783A>G (p.Arg595Gly)	ARMCX5-GPRASP2, GPRASP1 (R595G)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 770479	NM_001184727.2(GPRASP1):c.3840G>A (p.Gly1280=)	ARMCX5-GPRASP2, GPRASP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 748221	NM_001184727.2(GPRASP1):c.2372T>C (p.Leu791Pro)	ARMCX5-GPRASP2, GPRASP1 (L791P)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 620035	NM_001184727.2(GPRASP1):c.3106C>T (p.Pro1036Ser)	ARMCX5-GPRASP2, GPRASP1 (P1036S)	Single nucleotide variant (missense variant +1 more)	Intellectual disability	GUncertain significance
Select item 620001	NM_001184727.2(GPRASP1):c.3754C>A (p.Pro1252Thr)	ARMCX5-GPRASP2, GPRASP1 (P1252T)	Single nucleotide variant (missense variant +1 more)	Intellectual disability	GUncertain significance
Select item 373909	NM_001184727.2(GPRASP1):c.3379G>C (p.Glu1127Gln)	ARMCX5-GPRASP2, GPRASP1 (E1127Q)	Single nucleotide variant (missense variant +1 more)	Intellectual disability	GUncertain significance

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Links from Gene

Items: 67