ClinVar for MedGen (Select 1622156) - ClinVar

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Items: 50

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3377682	NM_001447.3(FAT2):c.7652G>A (p.Arg2551Lys)	FAT2, SLC36A1 (R2551K)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia 45	GUncertain significance
Select item 3254986	NM_001447.3(FAT2):c.436C>T (p.Pro146Ser)	FAT2 (P146S)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia 45	GUncertain significance
Select item 3238748	NM_001447.3(FAT2):c.5662G>A (p.Gly1888Ser)	FAT2, SLC36A1 (G1888S)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia 45	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 2580963	NM_004360.5(CDH1):c.1062del (p.Gly354_Leu355insTer)	CDH1	Deletion (frameshift variant +1 more)	Hereditary diffuse gastric adenocarcinoma +2 more	GConflicting classifications of pathogenicity
Select item 2505571	NM_001447.3(FAT2):c.7376G>A (p.Gly2459Glu)	FAT2, SLC36A1 (G2459E)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia 45	GLikely benign
Select item 2441365	NM_001447.3(FAT2):c.10111A>G (p.Ile3371Val)	FAT2, SLC36A1 (I3371V)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2441364	NM_001447.3(FAT2):c.12337A>G (p.Asn4113Asp)	FAT2, SLC36A1 (N4113D)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia 45	GUncertain significance
Select item 2441363	NM_001447.3(FAT2):c.3781G>C (p.Gly1261Arg)	FAT2, SLC36A1 (G1261R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2441362	NM_001447.3(FAT2):c.11435C>T (p.Thr3812Ile)	FAT2, SLC36A1 (T3812I)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia 45	GUncertain significance
Select item 2421867	NM_001447.3(FAT2):c.11792C>T (p.Thr3931Met)	FAT2, SLC36A1 (T3931M)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2063895	NM_001447.3(FAT2):c.8608A>G (p.Thr2870Ala)	FAT2, SLC36A1 (T2870A)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 1708205	NM_001447.3(FAT2):c.1653del (p.Leu552fs)	FAT2 (L552fs)	Deletion (frameshift variant)	not provided +1 more	GUncertain significance
Select item 1679143	NM_001447.3(FAT2):c.9835C>G (p.Leu3279Val)	FAT2, SLC36A1 (L3279V)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia 45	GUncertain significance
Select item 1333870	NM_001447.3(FAT2):c.5237T>C (p.Val1746Ala)	FAT2, SLC36A1 (V1746A)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia 45	GUncertain significance
Select item 1301622	NM_001447.3(FAT2):c.1521T>G (p.Ile507Met)	FAT2 (I507M)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia 45	GUncertain significance
Select item 1298317	NM_001447.3(FAT2):c.12899T>C (p.Met4300Thr)	FAT2, SLC36A1 (M4300T)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia 45	GUncertain significance
Select item 1285259	NM_001447.3(FAT2):c.774G>A (p.Ser258=)	FAT2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1285258	NM_001447.3(FAT2):c.2057T>C (p.Phe686Ser)	FAT2 (F686S)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1285257	NM_001447.3(FAT2):c.10893G>A (p.Met3631Ile)	FAT2, SLC36A1 (M3631I)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1285256	NM_001447.3(FAT2):c.12060-13_12060-11dup	FAT2, SLC36A1	Duplication (intron variant)	Spinocerebellar ataxia 45	GBenign
Select item 1278729	NM_001447.3(FAT2):c.2562G>A (p.Arg854=)	FAT2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1273017	NM_001447.3(FAT2):c.3541T>C (p.Tyr1181His)	FAT2 (Y1181H)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1269573	NM_001447.3(FAT2):c.7283T>C (p.Phe2428Ser)	FAT2, SLC36A1 (F2428S)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1268601	NM_001447.3(FAT2):c.2361C>T (p.Ile787=)	FAT2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1259768	NM_001447.3(FAT2):c.2631T>C (p.Val877=)	FAT2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1257608	NM_001447.3(FAT2):c.3010G>A (p.Gly1004Ser)	FAT2 (G1004S)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1252863	NM_001447.3(FAT2):c.10350G>A (p.Leu3450=)	FAT2, SLC36A1	Single nucleotide variant (synonymous variant)	Spinocerebellar ataxia 45 +1 more	GBenign
Select item 1249251	NM_001447.3(FAT2):c.12350C>T (p.Pro4117Leu)	FAT2, SLC36A1 (P4117L)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia 45 +1 more	GBenign
Select item 1249058	NM_001447.3(FAT2):c.1720C>T (p.Arg574Cys)	FAT2 (R574C)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia 45 +1 more	GBenign
Select item 1242230	NM_001447.3(FAT2):c.1527C>T (p.Pro509=)	FAT2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1239472	NM_001447.3(FAT2):c.2794C>T (p.Leu932=)	FAT2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1237177	NM_001447.3(FAT2):c.5544T>C (p.Pro1848=)	FAT2, SLC36A1	Single nucleotide variant (synonymous variant)	Spinocerebellar ataxia 45 +1 more	GBenign
Select item 1232448	NM_001447.3(FAT2):c.10541T>C (p.Leu3514Ser)	FAT2, LOC132089193 +1 more (L3514S)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1227963	NM_001447.3(FAT2):c.11898T>C (p.His3966=)	FAT2, SLC36A1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1226726	NM_001447.3(FAT2):c.3375C>T (p.Ile1125=)	FAT2	Single nucleotide variant (synonymous variant)	Spinocerebellar ataxia 45 +1 more	GBenign
Select item 1226257	NM_001447.3(FAT2):c.11043T>C (p.Asp3681=)	FAT2, SLC36A1	Single nucleotide variant (synonymous variant)	Spinocerebellar ataxia 45 +1 more	GBenign
Select item 1225536	NM_001447.3(FAT2):c.10854C>T (p.Tyr3618=)	FAT2, SLC36A1	Single nucleotide variant (synonymous variant)	Spinocerebellar ataxia 45 +1 more	GBenign
Select item 1220803	NM_001447.3(FAT2):c.3491C>T (p.Pro1164Leu)	FAT2 (P1164L)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1220679	NM_001447.3(FAT2):c.12507C>T (p.Ser4169=)	SLC36A1, FAT2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1180502	NM_001447.3(FAT2):c.9896C>T (p.Ser3299Phe)	FAT2, SLC36A1 (S3299F)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia 45	GUncertain significance
Select item 1178412	NM_001447.3(FAT2):c.9213T>A (p.Thr3071=)	FAT2, SLC36A1	Single nucleotide variant (synonymous variant)	Spinocerebellar ataxia 45 +1 more	GBenign
Select item 982936	NM_001447.3(FAT2):c.10673G>A (p.Arg3558Gln)	FAT2, SLC36A1 (R3558Q)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia 45	GUncertain significance
Select item 973877	NM_001447.3(FAT2):c.11978C>T (p.Ala3993Val)	FAT2, SLC36A1 (A3993V)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia 45	GUncertain significance
Select item 774860	NM_001447.3(FAT2):c.829G>C (p.Val277Leu)	FAT2 (V277L)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia 45 +1 more	GBenign/Likely benign
Select item 717680	NM_001447.3(FAT2):c.12464C>G (p.Ser4155Cys)	FAT2, SLC36A1 (S4155C)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 446266	NM_001447.3(FAT2):c.10946G>A (p.Arg3649Gln)	FAT2, SLC36A1 (R3649Q)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia 45	GUncertain significance
Select item 446265	NM_001447.3(FAT2):c.10758G>C (p.Lys3586Asn)	FAT2, SLC36A1 (K3586N)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia 45	GUncertain significance
Select item 16236	NM_000143.4(FH):c.698G>A (p.Arg233His)	FH (R233H)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +5 more	GPathogenic

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Items: 50