FSIP2[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1176749	NM_173651.4(FSIP2):c.272G>A (p.Arg91Gln)	FSIP2 (R91Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3050642	NM_173651.4(FSIP2):c.277T>C (p.Leu93=)	FSIP2	Single nucleotide variant (synonymous variant)	FSIP2-related disorder	GLikely benign
Select item 3042041	NM_173651.4(FSIP2):c.417G>A (p.Lys139=)	FSIP2	Single nucleotide variant (synonymous variant)	FSIP2-related disorder	GLikely benign
Select item 2211885	NM_173651.4(FSIP2):c.577A>C (p.Thr193Pro)	FSIP2 (T193P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097315	NM_173651.4(FSIP2):c.586A>G (p.Ile196Val)	FSIP2 (I196V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097319	NM_173651.4(FSIP2):c.602G>A (p.Arg201Gln)	FSIP2 (R201Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280051	NM_173651.4(FSIP2):c.658C>T (p.Arg220Cys)	FSIP2 (R220C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1050090	NM_173651.4(FSIP2):c.707G>A (p.Arg236Gln)	FSIP2 (R236Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2208972	NM_173651.4(FSIP2):c.710A>G (p.Gln237Arg)	FSIP2 (Q237R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3056516	NM_173651.4(FSIP2):c.712C>T (p.Arg238Trp)	FSIP2 (R238W)	Single nucleotide variant (missense variant)	FSIP2-related disorder	GBenign
Select item 3097325	NM_173651.4(FSIP2):c.713G>A (p.Arg238Gln)	FSIP2 (R238Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3033838	NM_173651.4(FSIP2):c.717A>G (p.Glu239=)	FSIP2	Single nucleotide variant (synonymous variant)	FSIP2-related disorder	GBenign
Select item 2325449	NM_173651.4(FSIP2):c.719A>C (p.His240Pro)	FSIP2 (H240P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363740	NM_173651.4(FSIP2):c.742C>T (p.Arg248Cys)	FSIP2 (R248C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097203	NM_173651.4(FSIP2):c.743G>T (p.Arg248Leu)	FSIP2 (R248L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346319	NM_173651.4(FSIP2):c.803A>T (p.Glu268Val)	FSIP2 (E268V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097207	NM_173651.4(FSIP2):c.812A>C (p.Lys271Thr)	FSIP2 (K271T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 586972	NM_173651.4(FSIP2):c.910del (p.Gln304fs)	FSIP2 (Q304fs)	Deletion (frameshift variant)	Spermatogenic failure 34	GPathogenic
Select item 3039528	NM_173651.4(FSIP2):c.916A>G (p.Met306Val)	FSIP2 (M306V)	Single nucleotide variant (missense variant)	FSIP2-related disorder	GLikely benign
Select item 2254820	NM_173651.4(FSIP2):c.946A>G (p.Ile316Val)	FSIP2 (I316V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1709916	NM_173651.4(FSIP2):c.1041_1050del (p.Val346_Tyr347insTer)	FSIP2	Deletion (nonsense)	Spermatogenic failure 34	GLikely pathogenic
Select item 2651742	NM_173651.4(FSIP2):c.1045G>A (p.Ala349Thr)	FSIP2 (A349T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3034749	NM_173651.4(FSIP2):c.1069G>C (p.Glu357Gln)	FSIP2 (E357Q)	Single nucleotide variant (missense variant)	FSIP2-related disorder	GBenign
Select item 3097224	NM_173651.4(FSIP2):c.1075C>G (p.His359Asp)	FSIP2 (H359D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3055476	NM_173651.4(FSIP2):c.1131G>A (p.Thr377=)	FSIP2	Single nucleotide variant (synonymous variant)	FSIP2-related disorder	GBenign
Select item 3059608	NM_173651.4(FSIP2):c.1134A>G (p.Lys378=)	FSIP2	Single nucleotide variant (synonymous variant)	FSIP2-related disorder	GBenign
Select item 2239581	NM_173651.4(FSIP2):c.1150G>T (p.Val384Phe)	FSIP2 (V384F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3050324	NM_173651.4(FSIP2):c.1195-8C>T	FSIP2	Single nucleotide variant (intron variant)	FSIP2-related disorder	GLikely benign
Select item 3049892	NM_173651.4(FSIP2):c.1217A>C (p.Asn406Thr)	FSIP2 (N406T)	Single nucleotide variant (missense variant)	FSIP2-related disorder	GLikely benign
Select item 3034829	NM_173651.4(FSIP2):c.1217A>T (p.Asn406Ile)	FSIP2 (N406I)	Single nucleotide variant (missense variant)	FSIP2-related disorder	GLikely benign
Select item 2275639	NM_173651.4(FSIP2):c.1247T>C (p.Ile416Thr)	FSIP2 (I416T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3059353	NM_173651.4(FSIP2):c.1274T>C (p.Ile425Thr)	FSIP2 (I425T)	Single nucleotide variant (missense variant)	FSIP2-related disorder	GBenign
Select item 3052408	NM_173651.4(FSIP2):c.1348-8T>C	FSIP2	Single nucleotide variant (intron variant)	FSIP2-related disorder	GLikely benign
Select item 3097239	NM_173651.4(FSIP2):c.1361C>T (p.Ala454Val)	FSIP2 (A454V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3039858	NM_173651.4(FSIP2):c.1374A>G (p.Gly458=)	FSIP2	Single nucleotide variant (synonymous variant)	FSIP2-related disorder	GLikely benign
Select item 2563315	NM_173651.4(FSIP2):c.1405G>A (p.Glu469Lys)	FSIP2 (E469K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280062	NM_173651.4(FSIP2):c.1418A>T (p.Gln473Leu)	FSIP2 (Q473L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253013	NM_173651.4(FSIP2):c.1419G>C (p.Gln473His)	FSIP2 (Q473H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3047623	NM_173651.4(FSIP2):c.1437G>A (p.Pro479=)	FSIP2	Single nucleotide variant (synonymous variant)	FSIP2-related disorder	GLikely benign
Select item 1176750	NM_173651.4(FSIP2):c.1453C>T (p.Pro485Ser)	FSIP2 (P485S)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 3034005	NM_173651.4(FSIP2):c.10865A>G (p.Asp3622Gly)	FSIP2 (D3622G)	Single nucleotide variant (missense variant)	FSIP2-related disorder	GBenign
Select item 2203849	NM_173651.4(FSIP2):c.10883A>G (p.Asn3628Ser)	FSIP2 (N3628S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276580	NM_173651.4(FSIP2):c.10893C>A (p.Asn3631Lys)	FSIP2 (N3631K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3059153	NM_173651.4(FSIP2):c.10930C>A (p.Leu3644Ile)	FSIP2 (L3644I)	Single nucleotide variant (missense variant)	FSIP2-related disorder	GBenign
Select item 3097212	NM_173651.4(FSIP2):c.10943T>A (p.Ile3648Asn)	FSIP2 (I3648N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542088	NM_173651.4(FSIP2):c.11011A>C (p.Asn3671His)	FSIP2 (N3671H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512137	NM_173651.4(FSIP2):c.11050G>A (p.Val3684Ile)	FSIP2 (V3684I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3048367	NM_173651.4(FSIP2):c.11065A>G (p.Thr3689Ala)	FSIP2 (T3689A)	Single nucleotide variant (missense variant)	FSIP2-related disorder	GBenign
Select item 2348836	NM_173651.4(FSIP2):c.11105T>C (p.Ile3702Thr)	FSIP2 (I3702T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2651748	NM_173651.4(FSIP2):c.11144C>T (p.Thr3715Met)	FSIP2 (T3715M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3055379	NM_173651.4(FSIP2):c.11158G>C (p.Gly3720Arg)	FSIP2 (G3720R)	Single nucleotide variant (missense variant)	FSIP2-related disorder	GBenign
Select item 3097213	NM_173651.4(FSIP2):c.11159G>A (p.Gly3720Asp)	FSIP2 (G3720D)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3040372	NM_173651.4(FSIP2):c.11219C>A (p.Thr3740Asn)	FSIP2 (T3740N)	Single nucleotide variant (missense variant)	FSIP2-related disorder	GBenign
Select item 2477116	NM_173651.4(FSIP2):c.11248G>T (p.Val3750Phe)	FSIP2 (V3750F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1013187	NM_173651.4(FSIP2):c.11361A>C (p.Glu3787Asp)	FSIP2 (E3787D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2607916	NM_173651.4(FSIP2):c.11395G>A (p.Asp3799Asn)	FSIP2 (D3799N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3060270	NM_173651.4(FSIP2):c.11399G>A (p.Gly3800Glu)	FSIP2 (G3800E)	Single nucleotide variant (missense variant)	FSIP2-related disorder	GBenign
Select item 2457068	NM_173651.4(FSIP2):c.11431T>C (p.Cys3811Arg)	FSIP2 (C3811R)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2611741	NM_173651.4(FSIP2):c.11446G>C (p.Val3816Leu)	FSIP2 (V3816L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097214	NM_173651.4(FSIP2):c.11468T>C (p.Leu3823Ser)	FSIP2 (L3823S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3050763	NM_173651.4(FSIP2):c.11500T>C (p.Leu3834=)	FSIP2	Single nucleotide variant (synonymous variant)	FSIP2-related disorder	GBenign
Select item 2218634	NM_173651.4(FSIP2):c.11597T>C (p.Leu3866Pro)	FSIP2 (L3866P)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3280059	NM_173651.4(FSIP2):c.11639T>C (p.Ile3880Thr)	FSIP2 (I3880T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235673	NM_173651.4(FSIP2):c.11639T>A (p.Ile3880Lys)	FSIP2 (I3880K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226683	NM_173651.4(FSIP2):c.11717G>A (p.Ser3906Asn)	FSIP2 (S3906N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3040752	NM_173651.4(FSIP2):c.11745C>T (p.Ser3915=)	FSIP2	Single nucleotide variant (synonymous variant)	FSIP2-related disorder	GLikely benign
Select item 2351725	NM_173651.4(FSIP2):c.11786C>T (p.Pro3929Leu)	FSIP2 (P3929L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3059854	NM_173651.4(FSIP2):c.11791A>G (p.Asn3931Asp)	FSIP2 (N3931D)	Single nucleotide variant (missense variant)	FSIP2-related disorder	GBenign
Select item 3097215	NM_173651.4(FSIP2):c.11800T>C (p.Cys3934Arg)	FSIP2 (C3934R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250293	NM_173651.4(FSIP2):c.11849A>T (p.Lys3950Met)	FSIP2 (K3950M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597506	NM_173651.4(FSIP2):c.11858A>G (p.Asp3953Gly)	FSIP2 (D3953G)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2396761	NM_173651.4(FSIP2):c.11921C>A (p.Thr3974Lys)	FSIP2 (T3974K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361032	NM_173651.4(FSIP2):c.11963C>T (p.Ser3988Phe)	FSIP2 (S3988F)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2621293	NM_173651.4(FSIP2):c.11991C>A (p.Asn3997Lys)	FSIP2 (N3997K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3348464	NM_173651.4(FSIP2):c.11999T>G (p.Val4000Gly)	FSIP2 (V4000G)	Single nucleotide variant (missense variant)	FSIP2-related disorder	GUncertain significance
Select item 2396291	NM_173651.4(FSIP2):c.12011A>G (p.Asn4004Ser)	FSIP2 (N4004S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239666	NM_173651.4(FSIP2):c.12028T>C (p.Phe4010Leu)	FSIP2 (F4010L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2374346	NM_173651.4(FSIP2):c.12058A>G (p.Asn4020Asp)	FSIP2 (N4020D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300508	NM_173651.4(FSIP2):c.12131G>A (p.Ser4044Asn)	FSIP2 (S4044N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2651749	NM_173651.4(FSIP2):c.12168G>A (p.Gln4056=)	FSIP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2525584	NM_173651.4(FSIP2):c.12297T>A (p.His4099Gln)	FSIP2 (H4099Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3039166	NM_173651.4(FSIP2):c.12310T>A (p.Ser4104Thr)	FSIP2 (S4104T)	Single nucleotide variant (missense variant)	FSIP2-related disorder	GLikely benign
Select item 2596857	NM_173651.4(FSIP2):c.12320C>T (p.Pro4107Leu)	FSIP2 (P4107L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402577	NM_173651.4(FSIP2):c.12329C>A (p.Pro4110His)	FSIP2 (P4110H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280087	NM_173651.4(FSIP2):c.12338T>C (p.Ile4113Thr)	FSIP2 (I4113T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097218	NM_173651.4(FSIP2):c.12376T>C (p.Ser4126Pro)	FSIP2 (S4126P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3055857	NM_173651.4(FSIP2):c.12381A>C (p.Leu4127=)	FSIP2	Single nucleotide variant (synonymous variant)	FSIP2-related disorder	GBenign
Select item 2267920	NM_173651.4(FSIP2):c.12382C>T (p.Pro4128Ser)	FSIP2 (P4128S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3044465	NM_173651.4(FSIP2):c.12402T>C (p.Tyr4134=)	FSIP2	Single nucleotide variant (synonymous variant)	FSIP2-related disorder	GBenign
Select item 2467645	NM_173651.4(FSIP2):c.12458A>G (p.Gln4153Arg)	FSIP2 (Q4153R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272007	NM_173651.4(FSIP2):c.12589A>C (p.Thr4197Pro)	FSIP2 (T4197P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097219	NM_173651.4(FSIP2):c.12594A>G (p.Ile4198Met)	FSIP2 (I4198M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097220	NM_173651.4(FSIP2):c.12608A>G (p.Tyr4203Cys)	FSIP2 (Y4203C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400212	NM_173651.4(FSIP2):c.12619G>A (p.Gly4207Arg)	FSIP2 (G4207R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337797	NM_173651.4(FSIP2):c.12635A>G (p.Lys4212Arg)	FSIP2 (K4212R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523629	NM_173651.4(FSIP2):c.12666G>T (p.Leu4222Phe)	FSIP2 (L4222F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214406	NM_173651.4(FSIP2):c.12866T>C (p.Val4289Ala)	FSIP2 (V4289A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550276	NM_173651.4(FSIP2):c.12882A>T (p.Arg4294Ser)	FSIP2 (R4294S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602446	NM_173651.4(FSIP2):c.12904G>C (p.Asp4302His)	FSIP2 (D4302H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097221	NM_173651.4(FSIP2):c.12925G>A (p.Val4309Ile)	FSIP2 (V4309I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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