ClinVar for Gene (Select 2196) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3234694	NM_001447.3(FAT2):c.4468G>C (p.Asp1490His)	FAT2, SLC36A1 (D1490H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3234514	NM_001447.3(FAT2):c.8184G>C (p.Arg2728=)	FAT2, SLC36A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3234407	NM_001447.3(FAT2):c.8577A>T (p.Thr2859=)	FAT2, SLC36A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3234239	NM_001447.3(FAT2):c.10945C>A (p.Arg3649=)	FAT2, SLC36A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3093132	NM_001447.3(FAT2):c.9089T>C (p.Ile3030Thr)	FAT2, SLC36A1 (I3030T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093131	NM_001447.3(FAT2):c.878G>T (p.Gly293Val)	FAT2 (G293V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093130	NM_001447.3(FAT2):c.8773G>A (p.Val2925Met)	FAT2, SLC36A1 (V2925M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093129	NM_001447.3(FAT2):c.8651T>C (p.Ile2884Thr)	FAT2, SLC36A1 (I2884T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093128	NM_001447.3(FAT2):c.8374G>A (p.Asp2792Asn)	FAT2, SLC36A1 (D2792N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093127	NM_001447.3(FAT2):c.8033G>A (p.Arg2678Gln)	FAT2, SLC36A1 (R2678Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093126	NM_001447.3(FAT2):c.7141C>A (p.Gln2381Lys)	FAT2, SLC36A1 (Q2381K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093124	NM_001447.3(FAT2):c.6688C>T (p.Pro2230Ser)	FAT2, SLC36A1 (P2230S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093123	NM_001447.3(FAT2):c.6443G>A (p.Gly2148Glu)	FAT2, SLC36A1 (G2148E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093122	NM_001447.3(FAT2):c.6398A>G (p.Tyr2133Cys)	FAT2, SLC36A1 (Y2133C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093121	NM_001447.3(FAT2):c.5C>T (p.Thr2Ile)	FAT2 (T2I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3093120	NM_001447.3(FAT2):c.5979G>T (p.Gln1993His)	FAT2, SLC36A1 (Q1993H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093119	NM_001447.3(FAT2):c.5645T>C (p.Val1882Ala)	FAT2, SLC36A1 (V1882A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093118	NM_001447.3(FAT2):c.5560A>G (p.Arg1854Gly)	FAT2, SLC36A1 (R1854G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093117	NM_001447.3(FAT2):c.5030C>T (p.Ser1677Phe)	FAT2, SLC36A1 (S1677F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093116	NM_001447.3(FAT2):c.4712G>A (p.Gly1571Asp)	FAT2, SLC36A1 (G1571D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093115	NM_001447.3(FAT2):c.4391G>A (p.Gly1464Glu)	FAT2, SLC36A1 (G1464E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093114	NM_001447.3(FAT2):c.4239G>C (p.Arg1413Ser)	FAT2, SLC36A1 (R1413S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093113	NM_001447.3(FAT2):c.4207G>A (p.Val1403Ile)	FAT2, SLC36A1 (V1403I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3093112	NM_001447.3(FAT2):c.4198G>A (p.Gly1400Ser)	FAT2, SLC36A1 (G1400S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093111	NM_001447.3(FAT2):c.4025C>T (p.Pro1342Leu)	FAT2, SLC36A1 (P1342L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093109	NM_001447.3(FAT2):c.374C>T (p.Thr125Ile)	FAT2 (T125I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093108	NM_001447.3(FAT2):c.3262A>G (p.Met1088Val)	FAT2 (M1088V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093107	NM_001447.3(FAT2):c.2270G>A (p.Gly757Asp)	FAT2 (G757D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093106	NM_001447.3(FAT2):c.190G>A (p.Glu64Lys)	FAT2 (E64K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093105	NM_001447.3(FAT2):c.1301G>A (p.Arg434Lys)	FAT2 (R434K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093104	NM_001447.3(FAT2):c.12959C>T (p.Ala4320Val)	FAT2, SLC36A1 (A4320V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093103	NM_001447.3(FAT2):c.12785G>A (p.Arg4262His)	FAT2, SLC36A1 (R4262H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3093102	NM_001447.3(FAT2):c.12611C>T (p.Pro4204Leu)	FAT2, SLC36A1 (P4204L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093101	NM_001447.3(FAT2):c.12304G>A (p.Glu4102Lys)	FAT2, SLC36A1 (E4102K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093100	NM_001447.3(FAT2):c.12283A>G (p.Thr4095Ala)	FAT2, SLC36A1 (T4095A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093099	NM_001447.3(FAT2):c.1159A>C (p.Thr387Pro)	FAT2 (T387P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093098	NM_001447.3(FAT2):c.11356T>A (p.Tyr3786Asn)	FAT2, SLC36A1 (Y3786N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093097	NM_001447.3(FAT2):c.11331G>T (p.Arg3777Ser)	FAT2, SLC36A1 (R3777S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093096	NM_001447.3(FAT2):c.11249C>T (p.Thr3750Met)	FAT2, SLC36A1 (T3750M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093095	NM_001447.3(FAT2):c.11192C>A (p.Thr3731Asn)	FAT2, SLC36A1 (T3731N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093094	NM_001447.3(FAT2):c.11156G>A (p.Arg3719Gln)	FAT2, SLC36A1 (R3719Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093093	NM_001447.3(FAT2):c.11032G>A (p.Ala3678Thr)	FAT2, SLC36A1 (A3678T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093092	NM_001447.3(FAT2):c.1087G>A (p.Glu363Lys)	FAT2 (E363K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093091	NM_001447.3(FAT2):c.10775G>A (p.Gly3592Asp)	FAT2, SLC36A1 (G3592D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093090	NM_001447.3(FAT2):c.10577A>G (p.His3526Arg)	FAT2, LOC132089193 +1 more (H3526R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093088	NM_001447.3(FAT2):c.10006G>A (p.Val3336Met)	FAT2, SLC36A1 (V3336M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3068044	NM_001447.3(FAT2):c.7018G>A (p.Glu2340Lys)	FAT2, SLC36A1 (E2340K)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia 45	GUncertain significance
Select item 3064881	NM_001447.3(FAT2):c.3632A>C (p.Glu1211Ala)	FAT2 (E1211A)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia 45	GLikely pathogenic
Select item 3061300	NM_001447.3(FAT2):c.910A>G (p.Lys304Glu)	FAT2 (K304E)	Single nucleotide variant (missense variant)	FAT2-related disorder	GUncertain significance
Select item 3058510	NM_001447.3(FAT2):c.11661C>T (p.Pro3887=)	FAT2, SLC36A1	Single nucleotide variant (synonymous variant)	FAT2-related disorder	GLikely benign
Select item 3057353	NM_001447.3(FAT2):c.11757C>T (p.Asn3919=)	FAT2, SLC36A1	Single nucleotide variant (synonymous variant)	FAT2-related disorder	GLikely benign
Select item 3056327	NM_001447.3(FAT2):c.10390T>C (p.Phe3464Leu)	FAT2, SLC36A1 (F3464L)	Single nucleotide variant (missense variant)	FAT2-related disorder	GUncertain significance
Select item 3051884	NM_001447.3(FAT2):c.6975T>C (p.Asn2325=)	FAT2, SLC36A1	Single nucleotide variant (synonymous variant)	FAT2-related disorder	GLikely benign
Select item 3050903	NM_001447.3(FAT2):c.8714G>A (p.Arg2905Gln)	FAT2, SLC36A1 (R2905Q)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign/Likely benign
Select item 3043550	NM_001447.3(FAT2):c.9261G>A (p.Ala3087=)	FAT2, SLC36A1	Single nucleotide variant (synonymous variant)	FAT2-related disorder	GLikely benign
Select item 3043485	NM_001447.3(FAT2):c.3367G>A (p.Val1123Ile)	FAT2 (V1123I)	Single nucleotide variant (missense variant)	FAT2-related disorder	GBenign
Select item 3042793	NM_001447.3(FAT2):c.12468C>T (p.His4156=)	FAT2, SLC36A1	Single nucleotide variant (synonymous variant)	FAT2-related disorder	GLikely benign
Select item 3040653	NM_001447.3(FAT2):c.2466C>T (p.Pro822=)	FAT2	Single nucleotide variant (synonymous variant)	FAT2-related disorder	GLikely benign
Select item 3039418	NM_001447.3(FAT2):c.2497A>G (p.Thr833Ala)	FAT2 (T833A)	Single nucleotide variant (missense variant)	FAT2-related disorder	GLikely benign
Select item 3026859	NM_001447.3(FAT2):c.11485C>T (p.Leu3829=)	FAT2, SLC36A1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 3025628	NM_001447.3(FAT2):c.1018G>A (p.Gly340Ser)	FAT2 (G340S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3025153	NM_001447.3(FAT2):c.4970C>T (p.Ala1657Val)	FAT2, SLC36A1 (A1657V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3023356	NM_001447.3(FAT2):c.4239G>T (p.Arg1413Ser)	FAT2, SLC36A1 (R1413S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3022241	NM_001447.3(FAT2):c.6106C>G (p.His2036Asp)	FAT2, SLC36A1 (H2036D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3020867	NM_001447.3(FAT2):c.3465T>G (p.Ser1155=)	FAT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3020099	NM_001447.3(FAT2):c.991C>T (p.Leu331Phe)	FAT2 (L331F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3019098	NM_001447.3(FAT2):c.4601T>C (p.Ile1534Thr)	FAT2, SLC36A1 (I1534T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3015877	NM_001447.3(FAT2):c.12264C>T (p.Ala4088=)	FAT2, SLC36A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3010348	NM_001447.3(FAT2):c.9182A>G (p.Asp3061Gly)	FAT2, SLC36A1 (D3061G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3009694	NM_001447.3(FAT2):c.1139G>A (p.Arg380His)	FAT2 (R380H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3009279	NM_001447.3(FAT2):c.5924C>A (p.Ala1975Glu)	FAT2, SLC36A1 (A1975E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3007359	NM_001447.3(FAT2):c.8952C>T (p.Val2984=)	FAT2, SLC36A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3005998	NM_001447.3(FAT2):c.3228A>G (p.Gly1076=)	FAT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3003808	NM_001447.3(FAT2):c.10508C>T (p.Ala3503Val)	FAT2, LOC132089193 +1 more (A3503V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3003386	NM_001447.3(FAT2):c.12589G>A (p.Glu4197Lys)	FAT2, SLC36A1 (E4197K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3003029	NM_001447.3(FAT2):c.3468G>T (p.Val1156=)	FAT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3002991	NM_001447.3(FAT2):c.12666C>T (p.Leu4222=)	FAT2, SLC36A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3002803	NM_001447.3(FAT2):c.6584C>T (p.Ala2195Val)	FAT2, SLC36A1 (A2195V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3001253	NM_001447.3(FAT2):c.3300A>G (p.Ala1100=)	FAT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3001075	NM_001447.3(FAT2):c.11584G>A (p.Ala3862Thr)	FAT2, SLC36A1 (A3862T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3000799	NM_001447.3(FAT2):c.9031T>C (p.Cys3011Arg)	FAT2, SLC36A1 (C3011R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3000690	NM_001447.3(FAT2):c.9704C>T (p.Thr3235Met)	FAT2, SLC36A1 (T3235M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2999607	NM_001447.3(FAT2):c.6952G>A (p.Val2318Ile)	FAT2, SLC36A1 (V2318I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2998751	NM_001447.3(FAT2):c.4972C>G (p.Pro1658Ala)	FAT2, SLC36A1 (P1658A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2997837	NM_001447.3(FAT2):c.143C>T (p.Pro48Leu)	FAT2 (P48L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2997275	NM_001447.3(FAT2):c.5579T>C (p.Ile1860Thr)	FAT2, SLC36A1 (I1860T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2996280	NM_001447.3(FAT2):c.4083G>A (p.Thr1361=)	FAT2, SLC36A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2992585	NM_001447.3(FAT2):c.3403C>A (p.Pro1135Thr)	FAT2 (P1135T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2992181	NM_001447.3(FAT2):c.10668A>G (p.Thr3556=)	FAT2, SLC36A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2991759	NM_001447.3(FAT2):c.2601C>T (p.Ser867=)	FAT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2990819	NM_001447.3(FAT2):c.8202C>T (p.Ser2734=)	FAT2, SLC36A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2989522	NM_001447.3(FAT2):c.11658G>A (p.Arg3886=)	FAT2, SLC36A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2988893	NM_001447.3(FAT2):c.7922G>T (p.Gly2641Val)	FAT2, SLC36A1 (G2641V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2988604	NM_001447.3(FAT2):c.6270T>A (p.Phe2090Leu)	FAT2, SLC36A1 (F2090L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2987218	NM_001447.3(FAT2):c.6750G>C (p.Leu2250=)	SLC36A1, FAT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2986396	NM_001447.3(FAT2):c.9609C>T (p.Thr3203=)	FAT2, SLC36A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2985198	NM_001447.3(FAT2):c.10236C>G (p.Ile3412Met)	FAT2, SLC36A1 (I3412M)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2985073	NM_001447.3(FAT2):c.4846C>G (p.Gln1616Glu)	SLC36A1, FAT2 (Q1616E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2984750	NM_001447.3(FAT2):c.12901C>G (p.Arg4301Gly)	FAT2, SLC36A1 (R4301G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2984695	NM_001447.3(FAT2):c.12724C>T (p.Arg4242Cys)	FAT2, SLC36A1 (R4242C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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