Related gene-specific medical variations for Gene (Select 2517) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 77

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3064088	NM_000147.5(FUCA1):c.1123del (p.Trp375fs)	FUCA1 (W375fs)	Deletion (frameshift variant +1 more)	Fucosidosis	GPathogenic
Select item 3063871	NM_000147.5(FUCA1):c.524+5G>A	FUCA1, LOC126805661	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 3016239	NM_000147.5(FUCA1):c.524+17G>T	FUCA1, LOC126805661	Single nucleotide variant (intron variant)	Fucosidosis	GLikely benign
Select item 3015965	NM_000147.5(FUCA1):c.375G>A (p.Gln125=)	FUCA1, LOC129929685	Single nucleotide variant (synonymous variant +1 more)	Fucosidosis	GLikely benign
Select item 2958440	NM_000147.5(FUCA1):c.524+14G>A	FUCA1, LOC126805661	Single nucleotide variant (intron variant)	Fucosidosis	GLikely benign
Select item 2915651	NM_000147.5(FUCA1):c.390-9T>C	FUCA1, LOC126805661	Single nucleotide variant (intron variant)	Fucosidosis	GLikely benign
Select item 2910847	NM_000147.5(FUCA1):c.460_475del (p.Asn154fs)	FUCA1, LOC126805661 (N154fs)	Deletion (frameshift variant +1 more)	Fucosidosis	GPathogenic
Select item 2909612	NM_000147.5(FUCA1):c.516C>G (p.Leu172=)	FUCA1, LOC126805661	Single nucleotide variant (synonymous variant +1 more)	Fucosidosis	GLikely benign
Select item 2893706	NM_000147.5(FUCA1):c.393T>C (p.Tyr131=)	FUCA1, LOC126805661	Single nucleotide variant (synonymous variant +1 more)	Fucosidosis	GLikely benign
Select item 2879880	NM_000147.5(FUCA1):c.524+9C>T	FUCA1, LOC126805661	Single nucleotide variant (intron variant)	Fucosidosis	GLikely benign
Select item 2861526	NM_000147.5(FUCA1):c.390-6C>T	FUCA1, LOC126805661	Single nucleotide variant (intron variant)	Fucosidosis	GLikely benign
Select item 2859408	NM_000147.5(FUCA1):c.524+7G>A	FUCA1, LOC126805661	Single nucleotide variant (intron variant)	Fucosidosis	GLikely benign
Select item 2856530	NM_000147.5(FUCA1):c.390-11G>C	FUCA1, LOC126805661	Single nucleotide variant (intron variant)	Fucosidosis	GLikely benign
Select item 2853609	NM_000147.5(FUCA1):c.389+13C>A	FUCA1, LOC129929685	Single nucleotide variant (non-coding transcript variant +1 more)	Fucosidosis	GLikely benign
Select item 2841141	NM_000147.5(FUCA1):c.389+14C>G	LOC129929685, FUCA1	Single nucleotide variant (non-coding transcript variant +1 more)	Fucosidosis	GLikely benign
Select item 2826918	NM_000147.5(FUCA1):c.389+18del	FUCA1, LOC129929685	Deletion (non-coding transcript variant +1 more)	Fucosidosis	GBenign
Select item 2791421	NM_000147.5(FUCA1):c.402G>A (p.Leu134=)	FUCA1, LOC126805661	Single nucleotide variant (synonymous variant +1 more)	Fucosidosis	GLikely benign
Select item 2769499	NM_000147.5(FUCA1):c.417C>T (p.His139=)	FUCA1, LOC126805661	Single nucleotide variant (synonymous variant +1 more)	Fucosidosis	GLikely benign
Select item 2760782	NM_000147.5(FUCA1):c.462C>T (p.Asn154=)	FUCA1, LOC126805661	Single nucleotide variant (synonymous variant +1 more)	Fucosidosis	GLikely benign
Select item 2750156	NM_000147.5(FUCA1):c.389+4A>C	FUCA1, LOC129929685	Single nucleotide variant (non-coding transcript variant +1 more)	Fucosidosis	GUncertain significance
Select item 2747700	NM_000147.5(FUCA1):c.519G>A (p.Arg173=)	FUCA1, LOC126805661	Single nucleotide variant (synonymous variant +1 more)	Fucosidosis	GLikely benign
Select item 2740826	NM_000147.5(FUCA1):c.471C>T (p.Asp157=)	LOC126805661, FUCA1	Single nucleotide variant (synonymous variant +1 more)	Fucosidosis	GLikely benign
Select item 2720173	NM_000147.5(FUCA1):c.389+20G>A	FUCA1, LOC129929685	Single nucleotide variant (non-coding transcript variant +1 more)	Fucosidosis	GLikely benign
Select item 2712474	NM_000147.5(FUCA1):c.524+12G>C	FUCA1, LOC126805661	Single nucleotide variant (intron variant)	Fucosidosis	GLikely benign
Select item 2704656	NM_000147.5(FUCA1):c.474G>A (p.Val158=)	FUCA1, LOC126805661	Single nucleotide variant (synonymous variant +1 more)	Fucosidosis	GLikely benign
Select item 2593793	NM_000147.5(FUCA1):c.430A>G (p.Asn144Asp)	FUCA1, LOC126805661 (N144D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2440334	NM_000147.5(FUCA1):c.579T>A (p.Tyr193Ter)	FUCA1 (Y193*)	Single nucleotide variant (nonsense +1 more)	Fucosidosis	GLikely pathogenic
Select item 2421957	NM_000147.5(FUCA1):c.423C>T (p.Gly141=)	FUCA1, LOC126805661	Single nucleotide variant (synonymous variant +1 more)	Fucosidosis	GLikely benign
Select item 2202728	NM_000147.5(FUCA1):c.459G>A (p.Trp153Ter)	FUCA1, LOC126805661 (W153*)	Single nucleotide variant (nonsense +1 more)	Fucosidosis	GPathogenic
Select item 2181370	NM_000147.5(FUCA1):c.389+18G>A	FUCA1, LOC129929685	Single nucleotide variant (non-coding transcript variant +1 more)	Fucosidosis	GLikely benign
Select item 2179315	NM_000147.5(FUCA1):c.437C>G (p.Pro146Arg)	FUCA1, LOC126805661 (P146R)	Single nucleotide variant (missense variant +1 more)	Fucosidosis	GUncertain significance
Select item 2128657	NM_000147.5(FUCA1):c.385G>T (p.Ala129Ser)	FUCA1, LOC129929685 (A129S)	Single nucleotide variant (missense variant +1 more)	Fucosidosis	GUncertain significance
Select item 2112218	NM_000147.5(FUCA1):c.400T>G (p.Leu134Val)	FUCA1, LOC126805661 (L134V)	Single nucleotide variant (missense variant +1 more)	Fucosidosis	GUncertain significance
Select item 2045928	NM_000147.5(FUCA1):c.422G>C (p.Gly141Ala)	FUCA1, LOC126805661 (G141A)	Single nucleotide variant (missense variant +1 more)	Fucosidosis	GUncertain significance
Select item 2040150	NM_000147.5(FUCA1):c.404C>T (p.Thr135Met)	FUCA1, LOC126805661 (T135M)	Single nucleotide variant (missense variant +1 more)	Fucosidosis	GUncertain significance
Select item 1698494	NM_000147.5(FUCA1):c.485G>A (p.Arg162Gln)	FUCA1, LOC126805661 (R162Q)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 1654618	NM_000147.5(FUCA1):c.465C>T (p.Ser155=)	FUCA1, LOC126805661	Single nucleotide variant (synonymous variant)	Fucosidosis	GLikely benign
Select item 1630886	NM_000147.5(FUCA1):c.524+18G>T	FUCA1, LOC126805661	Single nucleotide variant (intron variant)	Fucosidosis	GLikely benign
Select item 1601582	NM_000147.5(FUCA1):c.389+14C>T	FUCA1, LOC129929685	Single nucleotide variant (intron variant)	Fucosidosis	GBenign
Select item 1586759	NM_000147.5(FUCA1):c.502T>C (p.Leu168=)	FUCA1, LOC126805661	Single nucleotide variant (synonymous variant)	Fucosidosis +1 more	GLikely benign
Select item 1583503	NM_000147.5(FUCA1):c.390-20T>C	FUCA1, LOC126805661	Single nucleotide variant (intron variant)	Fucosidosis	GLikely benign
Select item 1573695	NM_000147.5(FUCA1):c.438G>A (p.Pro146=)	LOC126805661, FUCA1	Single nucleotide variant (synonymous variant)	Fucosidosis	GLikely benign
Select item 1512408	NM_000147.5(FUCA1):c.389+6T>C	FUCA1, LOC129929685	Single nucleotide variant (intron variant)	Fucosidosis	GUncertain significance
Select item 1498344	NM_000147.5(FUCA1):c.377C>T (p.Ala126Val)	FUCA1, LOC129929685 (A126V)	Single nucleotide variant (missense variant)	Fucosidosis	GUncertain significance
Select item 1476537	NM_000147.5(FUCA1):c.388A>G (p.Lys130Glu)	FUCA1, LOC129929685 (K130E)	Single nucleotide variant (missense variant)	Fucosidosis	GUncertain significance
Select item 1423309	NM_000147.5(FUCA1):c.484C>T (p.Arg162Trp)	FUCA1, LOC126805661 (R162W)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1415412	NM_000147.5(FUCA1):c.517C>T (p.Arg173Trp)	FUCA1, LOC126805661 (R173W)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1384812	NM_000147.5(FUCA1):c.518G>A (p.Arg173Gln)	FUCA1, LOC126805661 (R173Q)	Single nucleotide variant (missense variant)	Fucosidosis	GUncertain significance
Select item 1381632	NM_000147.5(FUCA1):c.404C>G (p.Thr135Arg)	FUCA1, LOC126805661 (T135R)	Single nucleotide variant (missense variant)	Fucosidosis	GUncertain significance
Select item 1381624	NM_000147.5(FUCA1):c.397G>C (p.Val133Leu)	FUCA1, LOC126805661 (V133L)	Single nucleotide variant (missense variant)	Fucosidosis	GUncertain significance
Select item 1368551	NM_000147.5(FUCA1):c.445G>T (p.Val149Leu)	FUCA1, LOC126805661 (V149L)	Single nucleotide variant (missense variant)	Fucosidosis	GUncertain significance
Select item 1362473	NM_000147.5(FUCA1):c.524+4_524+5del	FUCA1, LOC126805661	Deletion (intron variant)	Fucosidosis	GUncertain significance
Select item 1177815	NM_000147.5(FUCA1):c.390-264C>G	FUCA1, LOC126805661	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1046866	NM_000147.5(FUCA1):c.492G>C (p.Leu164Phe)	FUCA1, LOC126805661 (L164F)	Single nucleotide variant (missense variant)	Fucosidosis	GUncertain significance
Select item 987010	NM_000147.5(FUCA1):c.524+1G>A	FUCA1, LOC126805661	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 979026	NM_000147.5(FUCA1):c.662+5G>C	FUCA1	Single nucleotide variant (intron variant)	Fucosidosis	GPathogenic
Select item 979025	NM_000147.5(FUCA1):c.170del (p.Lys57fs)	FUCA1 (K57fs)	Deletion (frameshift variant)	Fucosidosis	GPathogenic
Select item 979024	NM_000147.5(FUCA1):c.237del (p.Trp79fs)	FUCA1 (W79fs)	Deletion (frameshift variant)	Fucosidosis	GPathogenic
Select item 979023	NM_000147.5(FUCA1):c.995G>A (p.Gly332Glu)	FUCA1 (G332E)	Single nucleotide variant (missense variant)	Fucosidosis	GPathogenic
Select item 975242	NM_000147.5(FUCA1):c.1093A>G (p.Asn365Asp)	FUCA1 (N365D)	Single nucleotide variant (missense variant)	Intellectual disability	GLikely benign
Select item 973571	NM_000147.5(FUCA1):c.691G>A (p.Gly231Arg)	FUCA1 (G231R)	Single nucleotide variant (missense variant)	Fucosidosis	GLikely pathogenic
Select item 876435	NM_000147.5(FUCA1):c.472G>A (p.Val158Met)	FUCA1, LOC126805661 (V158M)	Single nucleotide variant (missense variant)	Fucosidosis	GUncertain significance
Select item 876434	NM_000147.5(FUCA1):c.489T>C (p.Asp163=)	FUCA1, LOC126805661	Single nucleotide variant (synonymous variant)	Fucosidosis	GConflicting classifications of pathogenicity
Select item 874538	NM_000147.5(FUCA1):c.389+15G>C	FUCA1, LOC129929685	Single nucleotide variant (intron variant)	Fucosidosis	GConflicting classifications of pathogenicity
Select item 874537	NM_000147.5(FUCA1):c.420A>C (p.Glu140Asp)	FUCA1, LOC126805661 (E140D)	Single nucleotide variant (missense variant)	Fucosidosis	GUncertain significance
Select item 870568	NM_000147.5(FUCA1):c.404C>A (p.Thr135Lys)	FUCA1, LOC126805661 (T135K)	Single nucleotide variant (missense variant)	Fucosidosis	GUncertain significance
Select item 806089	NM_000147.5(FUCA1):c.522G>T (p.Lys174Asn)	FUCA1, LOC126805661 (K174N)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 683925	NM_000147.5(FUCA1):c.390-85T>C	FUCA1, LOC126805661	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 488520	NM_000147.5(FUCA1):c.422G>T (p.Gly141Val)	FUCA1, LOC126805661 (G141V)	Single nucleotide variant (missense variant)	Fucosidosis	GLikely pathogenic
Select item 296891	NM_000147.5(FUCA1):c.405G>A (p.Thr135=)	LOC126805661, FUCA1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 296890	NM_000147.5(FUCA1):c.433T>C (p.Trp145Arg)	FUCA1, LOC126805661 (W145R)	Single nucleotide variant (missense variant)	FUCA1-related condition +2 more	GConflicting classifications of pathogenicity
Select item 296889	NM_000147.5(FUCA1):c.437C>T (p.Pro146Leu)	LOC126805661, FUCA1 (P146L)	Single nucleotide variant (missense variant)	Fucosidosis +2 more	GBenign/Likely benign
Select item 287588	NM_000147.5(FUCA1):c.402G>C (p.Leu134Phe)	FUCA1, LOC126805661 (L134F)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 265438	NM_000147.5(FUCA1):c.393T>A (p.Tyr131Ter)	FUCA1, LOC126805661 (Y131*)	Single nucleotide variant (nonsense)	Fucosidosis +1 more	GPathogenic
Select item 100720	NM_000147.5(FUCA1):c.464C>T (p.Ser155Phe)	LOC126805661, FUCA1 (S155F)	Single nucleotide variant (missense variant)	Fucosidosis	GPathogenic
Select item 688	NM_000147.5(FUCA1):c.437del (p.Pro146fs)	FUCA1, LOC126805661 (P146fs)	Deletion (frameshift variant +1 more)	Fucosidosis	GPathogenic
Select item 682	NG_013346.1:g.(24722_27196)_(28294_?)del	FUCA1	Deletion	Fucosidosis	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 77