ClinVar for MedGen (Select 816624) - ClinVar

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Items: 57

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3065376	NM_015161.3(ARL6IP1):c.190C>G (p.Pro64Ala)	ARL6IP1 (P35A +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 61	GUncertain significance
Select item 3024198	NM_015161.3(ARL6IP1):c.92T>C (p.Leu31Pro)	ARL6IP1 (L31P +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 61	GPathogenic
Select item 3024197	NM_015161.3(ARL6IP1):c.112C>T (p.Arg38Ter)	ARL6IP1 (R38* +1 more)	Single nucleotide variant (nonsense)	Hereditary spastic paraplegia 61	GPathogenic
Select item 2978983	NM_015161.3(ARL6IP1):c.430T>C (p.Ser144Pro)	ARL6IP1 (S115P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2970847	NM_015161.3(ARL6IP1):c.291-18G>A	ARL6IP1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 61	GLikely benign
Select item 2964857	NM_015161.3(ARL6IP1):c.170+15A>G	ARL6IP1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 61	GLikely benign
Select item 2907480	NM_015161.3(ARL6IP1):c.207C>T (p.Gly69=)	ARL6IP1	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 61	GLikely benign
Select item 2904600	NM_015161.3(ARL6IP1):c.505C>T (p.Leu169=)	ARL6IP1	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 61	GLikely benign
Select item 2886305	NM_015161.3(ARL6IP1):c.435T>G (p.Leu145=)	ARL6IP1	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 61	GLikely benign
Select item 2796380	NM_015161.3(ARL6IP1):c.36+20C>T	ARL6IP1, LOC130058582	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 61	GLikely benign
Select item 2766414	NM_015161.3(ARL6IP1):c.555A>G (p.Gly185=)	ARL6IP1	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 61	GLikely benign
Select item 2738010	NM_015161.3(ARL6IP1):c.42A>G (p.Ala14=)	ARL6IP1	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary spastic paraplegia 61	GLikely benign
Select item 2729048	NM_015161.3(ARL6IP1):c.408+12G>A	ARL6IP1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 61	GLikely benign
Select item 2420894	NM_015161.3(ARL6IP1):c.494-18G>T	ARL6IP1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 61	GLikely benign
Select item 2196302	NM_015161.3(ARL6IP1):c.433C>G (p.Leu145Val)	ARL6IP1 (L116V +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 61	GUncertain significance
Select item 2193556	NM_015161.3(ARL6IP1):c.263C>T (p.Ala88Val)	ARL6IP1 (A88V +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 61	GUncertain significance
Select item 2180270	NM_015161.3(ARL6IP1):c.306G>A (p.Gln102=)	ARL6IP1	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 61	GLikely benign
Select item 2160407	NM_015161.3(ARL6IP1):c.171-9T>A	ARL6IP1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 61	GLikely benign
Select item 2159213	NM_015161.3(ARL6IP1):c.260T>C (p.Leu87Pro)	ARL6IP1 (L58P +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 61	GUncertain significance
Select item 2156733	NM_015161.3(ARL6IP1):c.36+11G>C	ARL6IP1, LOC130058582	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 61	GLikely benign
Select item 2148982	NM_015161.3(ARL6IP1):c.494-14T>C	ARL6IP1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 61	GLikely benign
Select item 2135617	NM_015161.3(ARL6IP1):c.391G>A (p.Glu131Lys)	ARL6IP1 (E102K +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 61	GUncertain significance
Select item 2089281	NM_015161.3(ARL6IP1):c.493+5G>A	ARL6IP1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 61	GUncertain significance
Select item 2057371	NM_015161.3(ARL6IP1):c.440C>T (p.Ala147Val)	ARL6IP1 (A118V +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 61	GUncertain significance
Select item 2048441	NM_015161.3(ARL6IP1):c.113G>A (p.Arg38Gln)	ARL6IP1 (R38Q +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 61	GUncertain significance
Select item 2029068	NM_015161.3(ARL6IP1):c.37-20T>G	ARL6IP1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 61	GLikely benign
Select item 2018403	NM_015161.3(ARL6IP1):c.510G>A (p.Leu170=)	ARL6IP1	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 61	GLikely benign
Select item 1980701	NM_015161.3(ARL6IP1):c.347G>A (p.Arg116Gln)	ARL6IP1 (R116Q +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 61	GUncertain significance
Select item 1975631	NM_015161.3(ARL6IP1):c.390G>A (p.Lys130=)	ARL6IP1	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 61	GLikely benign
Select item 1974763	NM_015161.3(ARL6IP1):c.489G>C (p.Leu163=)	ARL6IP1	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 61	GLikely benign
Select item 1962152	NM_015161.3(ARL6IP1):c.324T>G (p.Ile108Met)	ARL6IP1 (I79M +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 61	GUncertain significance
Select item 1945874	NM_015161.3(ARL6IP1):c.494-17T>G	ARL6IP1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 61	GLikely benign
Select item 1922923	NM_015161.3(ARL6IP1):c.36+19T>A	ARL6IP1, LOC130058582	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 61	GLikely benign
Select item 1918023	NM_015161.3(ARL6IP1):c.17A>G (p.Asn6Ser)	ARL6IP1, LOC130058582 (N6S)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 61	GUncertain significance
Select item 1651776	NM_015161.3(ARL6IP1):c.408+17G>T	ARL6IP1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 61	GBenign
Select item 1580614	NM_015161.3(ARL6IP1):c.6G>A (p.Ala2=)	ARL6IP1, LOC130058582	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 61	GLikely benign
Select item 1572852	NM_015161.3(ARL6IP1):c.36+13dup	ARL6IP1, LOC130058582	Duplication (intron variant)	Hereditary spastic paraplegia 61	GLikely benign
Select item 1403306	NM_015161.3(ARL6IP1):c.566G>A (p.Arg189Lys)	ARL6IP1 (R189K +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 61	GUncertain significance
Select item 1257597	NM_015161.3(ARL6IP1):c.170+12A>T	ARL6IP1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1240660	NM_015161.3(ARL6IP1):c.409-18T>C	ARL6IP1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 61 +1 more	GBenign
Select item 1169207	NM_015161.3(ARL6IP1):c.199C>T (p.Leu67=)	ARL6IP1	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 61	GBenign
Select item 1081749	NM_015161.3(ARL6IP1):c.345T>C (p.Thr115=)	ARL6IP1	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 61	GLikely benign
Select item 945031	NM_015161.3(ARL6IP1):c.171G>A (p.Leu57=)	ARL6IP1	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 61	GUncertain significance
Select item 941897	NM_015161.3(ARL6IP1):c.205G>A (p.Gly69Ser)	ARL6IP1 (G40S +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 61	GUncertain significance
Select item 772179	NM_015161.3(ARL6IP1):c.177C>T (p.Ile59=)	ARL6IP1	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 61	GLikely benign
Select item 707178	NM_015161.3(ARL6IP1):c.494-9del	ARL6IP1	Deletion (intron variant)	Hereditary spastic paraplegia 61	GBenign
Select item 706245	NM_015161.3(ARL6IP1):c.494-17dup	ARL6IP1	Duplication (intron variant)	Hereditary spastic paraplegia 61	GLikely benign
Select item 704124	NM_015161.3(ARL6IP1):c.29A>G (p.Asn10Ser)	ARL6IP1, LOC130058582 (N10S)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 61	GBenign
Select item 703992	NM_015161.3(ARL6IP1):c.204C>T (p.Ser68=)	ARL6IP1	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 61 +1 more	GBenign
Select item 657883	NM_015161.3(ARL6IP1):c.408+4C>G	ARL6IP1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 61	GUncertain significance
Select item 620202	NM_015161.3(ARL6IP1):c.346C>T (p.Arg116Ter)	ARL6IP1 (R116* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 584319	NC_000016.9:g.(?_18804554)_(18812808_?)dup	ARL6IP1, LOC130058581 +1 more	Duplication	Hereditary spastic paraplegia 61	GUncertain significance
Select item 583366	NM_015161.3(ARL6IP1):c.26C>G (p.Thr9Ser)	ARL6IP1, LOC130058582 (T9S)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 61 +1 more	GUncertain significance
Select item 541704	NM_015161.3(ARL6IP1):c.494-9T>A	ARL6IP1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 61	GLikely benign
Select item 474863	NM_015161.3(ARL6IP1):c.490A>C (p.Ile164Leu)	ARL6IP1 (I164L +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 474862	NM_015161.3(ARL6IP1):c.409-2A>G	ARL6IP1	Single nucleotide variant (splice acceptor variant)	Hereditary spastic paraplegia 61	GLikely pathogenic
Select item 101079	NM_015161.3(ARL6IP1):c.577_580del (p.Lys193fs)	ARL6IP1 (K193fs +1 more)	Microsatellite (frameshift variant)	not provided	GLikely pathogenic

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Items: 57