"Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM)"[su - ClinVar

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Items: 40

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 56362	NM_003982.4(SLC7A7):c.1465T>C (p.Ser489Pro)	SLC7A7 (S489P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 56361	NM_003982.4(SLC7A7):c.1460del (p.Cys487fs)	SLC7A7 (C487fs)	Deletion (frameshift variant)	Lysinuric protein intolerance	GLikely pathogenic
Select item 56360	NM_003982.4(SLC7A7):c.1417C>T (p.Arg473Ter)	SLC7A7 (R473*)	Single nucleotide variant (nonsense)	Lysinuric protein intolerance +1 more	GPathogenic
Select item 56359	NM_003982.4(SLC7A7):c.1402C>T (p.Arg468Ter)	SLC7A7 (R468*)	Single nucleotide variant (nonsense)	Lysinuric protein intolerance +1 more	GPathogenic/Likely pathogenic
Select item 56358	NM_003982.4(SLC7A7):c.1387del (p.Val463fs)	SLC7A7 (V463fs)	Deletion (frameshift variant)	Lysinuric protein intolerance	GPathogenic
Select item 56357	NM_003982.4(SLC7A7):c.1381_1384dup (p.Arg462fs)	SLC7A7 (R462fs)	Duplication (frameshift variant)	Lysinuric protein intolerance	GPathogenic/Likely pathogenic
Select item 56356	NM_003982.4(SLC7A7):c.1371C>A (p.Tyr457Ter)	SLC7A7 (Y457*)	Single nucleotide variant (nonsense)	Lysinuric protein intolerance	GLikely pathogenic
Select item 56355	NM_003982.4(SLC7A7):c.1344del (p.Ile449fs)	SLC7A7 (I449fs)	Deletion (frameshift variant)	Lysinuric protein intolerance	GLikely pathogenic
Select item 56354	NM_003982.4(SLC7A7):c.1273T>C (p.Cys425Arg)	SLC7A7 (C425R)	Single nucleotide variant (missense variant)	Lysinuric protein intolerance	GUncertain significance
Select item 56353	NM_003982.4(SLC7A7):c.1262del (p.Pro421fs)	SLC7A7 (P421fs)	Deletion (frameshift variant)	Lysinuric protein intolerance	GLikely pathogenic
Select item 56352	NM_003982.4(SLC7A7):c.1185_1188del (p.Ser396fs)	SLC7A7 (S396fs)	Deletion (frameshift variant)	Lysinuric protein intolerance	GPathogenic
Select item 56351	NM_003982.4(SLC7A7):c.1158C>A (p.Ser386Arg)	SLC7A7 (S386R)	Single nucleotide variant (missense variant)	Lysinuric protein intolerance	GLikely pathogenic
Select item 56350	NM_003982.4(SLC7A7):c.1147_1151dup (p.Tyr384Ter)	SLC7A7 (Y384*)	Duplication (nonsense)	Lysinuric protein intolerance	GPathogenic/Likely pathogenic
Select item 56349	NM_003982.4(SLC7A7):c.1093A>T (p.Asn365Tyr)	SLC7A7 (N365Y)	Single nucleotide variant (missense variant)	Lysinuric protein intolerance	GLikely pathogenic
Select item 56347	NM_003982.4(SLC7A7):c.1013G>A (p.Gly338Asp)	SLC7A7 (G338D)	Single nucleotide variant (missense variant)	Lysinuric protein intolerance	GUncertain significance
Select item 56346	NM_001126105.2(SLC7A7):c.1005_1008del (p.Phe335Leufs)	SLC7A7 (F335fs)	Deletion (frameshift variant)	Lysinuric protein intolerance	GPathogenic/Likely pathogenic
Select item 56382	NM_003982.4(SLC7A7):c.998+1G>T	SLC7A7	Single nucleotide variant (splice donor variant)	Lysinuric protein intolerance	GPathogenic
Select item 56383	NM_003982.4(SLC7A7):c.998G>T (p.Arg333Met)	SLC7A7 (R333M)	Single nucleotide variant (missense variant)	Lysinuric protein intolerance	GLikely pathogenic
Select item 56381	NM_003982.4(SLC7A7):c.895-2A>G	SLC7A7	Single nucleotide variant (splice acceptor variant)	Lysinuric protein intolerance	GPathogenic
Select item 56380	NM_003982.4(SLC7A7):c.894+1G>T	SLC7A7	Single nucleotide variant (splice donor variant)	Lysinuric protein intolerance	GPathogenic/Likely pathogenic
Select item 56379	NM_003982.4(SLC7A7):c.820dup (p.Tyr274fs)	SLC7A7 (Y274fs)	Duplication (frameshift variant)	Lysinuric protein intolerance	GLikely pathogenic
Select item 56378	NM_003982.4(SLC7A7):c.782T>C (p.Leu261Pro)	SLC7A7 (L261P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 56377	NM_003982.4(SLC7A7):c.753G>T (p.Glu251Asp)	SLC7A7 (E251D)	Single nucleotide variant (missense variant)	Lysinuric protein intolerance	GLikely pathogenic
Select item 56376	NM_003982.4(SLC7A7):c.713C>T (p.Ser238Phe)	SLC7A7 (S238F)	Single nucleotide variant (missense variant)	Lysinuric protein intolerance +1 more	GPathogenic/Likely pathogenic
Select item 56375	NM_003982.4(SLC7A7):c.625+1G>C	SLC7A7	Single nucleotide variant (splice donor variant)	Lysinuric protein intolerance	GPathogenic
Select item 56374	NM_003982.4(SLC7A7):c.625+1G>A	SLC7A7	Single nucleotide variant (splice donor variant)	SLC7A7-related disorder +2 more	GPathogenic
Select item 56373	NM_003982.4(SLC7A7):c.622C>T (p.Gln208Ter)	SLC7A7 (Q208*)	Single nucleotide variant (nonsense)	Lysinuric protein intolerance	GPathogenic
Select item 56372	NM_003982.4(SLC7A7):c.571A>G (p.Lys191Glu)	SLC7A7 (K191E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 56371	NM_003982.4(SLC7A7):c.563C>T (p.Thr188Ile)	SLC7A7 (T188I)	Single nucleotide variant (missense variant)	Lysinuric protein intolerance	GLikely pathogenic
Select item 56370	NM_003982.4(SLC7A7):c.545dup (p.Val183fs)	SLC7A7 (V183fs)	Duplication (frameshift variant)	Lysinuric protein intolerance	GPathogenic
Select item 56369	NM_003982.4(SLC7A7):c.499+1G>A	SLC7A7	Single nucleotide variant (splice donor variant)	Lysinuric protein intolerance	GPathogenic
Select item 56368	NM_003982.4(SLC7A7):c.454T>C (p.Phe152Leu)	SLC7A7 (F152L)	Single nucleotide variant (missense variant)	Lysinuric protein intolerance	GLikely pathogenic
Select item 56367	NM_003982.4(SLC7A7):c.418G>C (p.Ala140Pro)	SLC7A7 (A140P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 56366	NM_003982.4(SLC7A7):c.371T>C (p.Leu124Pro)	SLC7A7 (L124P)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 56365	NM_003982.4(SLC7A7):c.254_255del (p.Phe85fs)	SLC7A7 (F85fs)	Deletion (frameshift variant)	Lysinuric protein intolerance	GPathogenic
Select item 56364	NM_003982.4(SLC7A7):c.215_218del (p.Ser72fs)	SLC7A7 (S72fs)	Microsatellite (frameshift variant)	Lysinuric protein intolerance	GPathogenic
Select item 56345	NM_001126105.2(SLC7A7):c.158C>T (p.Ser53Leu)	SLC7A7 (S53L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 56363	NM_003982.4(SLC7A7):c.149T>A (p.Met50Lys)	SLC7A7 (M50K)	Single nucleotide variant (missense variant)	Lysinuric protein intolerance	GLikely pathogenic
Select item 56348	NM_003982.4(SLC7A7):c.106_108del (p.Glu36del)	LOC130055323, SLC7A7 (E36del)	Deletion (inframe_deletion)	Lysinuric protein intolerance	GLikely pathogenic
Select item 56344	NM_001126105.2(SLC7A7):c.14C>T (p.Thr5Ile)	LOC130055324, SLC7A7 (T5I)	Single nucleotide variant (missense variant)	Lysinuric protein intolerance	GLikely pathogenic

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Items: 40