ClinVar for MedGen (Select 83348) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1804847	NM_080669.6(SLC46A1):c.1334del (p.Lys445fs)	SARM1, SLC46A1 (K417fs +1 more)	Deletion (frameshift variant +1 more)	Congenital defect of folate absorption +1 more	GUncertain significance
Select item 1479192	NM_080669.6(SLC46A1):c.341G>T (p.Arg114Leu)	SLC46A1 (R114L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1477019	NM_080669.6(SLC46A1):c.43C>T (p.Pro15Ser)	LOC130060550, SLC46A1 (P15S)	Single nucleotide variant (missense variant)	Congenital defect of folate absorption +1 more	GUncertain significance
Select item 1382527	NM_080669.6(SLC46A1):c.329G>A (p.Ser110Asn)	SLC46A1 (S110N)	Single nucleotide variant (missense variant)	Congenital defect of folate absorption +1 more	GUncertain significance
Select item 1031063	NM_080669.6(SLC46A1):c.1061T>G (p.Ile354Ser)	SLC46A1 (I354S)	Single nucleotide variant (missense variant)	Congenital defect of folate absorption	GUncertain significance
Select item 892228	NM_080669.6(SLC46A1):c.-8G>A	LOC130060550, SLC46A1	Single nucleotide variant (5 prime UTR variant)	Congenital defect of folate absorption	GUncertain significance
Select item 892227	NM_080669.6(SLC46A1):c.85G>A (p.Val29Ile)	SLC46A1 (V29I)	Single nucleotide variant (missense variant)	Congenital defect of folate absorption +1 more	GConflicting classifications of pathogenicity
Select item 892226	NM_080669.6(SLC46A1):c.189G>T (p.Arg63Ser)	SLC46A1 (R63S)	Single nucleotide variant (missense variant)	Congenital defect of folate absorption +1 more	GConflicting classifications of pathogenicity
Select item 892225	NM_080669.6(SLC46A1):c.277G>A (p.Gly93Ser)	SLC46A1 (G93S)	Single nucleotide variant (missense variant)	Congenital defect of folate absorption +1 more	GUncertain significance
Select item 892170	NM_015077.4(SARM1):c.*3073G>A	SARM1, SLC46A1	Single nucleotide variant (3 prime UTR variant)	Congenital defect of folate absorption	GUncertain significance
Select item 892169	NM_015077.4(SARM1):c.*3019G>A	SARM1, SLC46A1	Single nucleotide variant (3 prime UTR variant)	Congenital defect of folate absorption	GUncertain significance
Select item 892168	NM_015077.4(SARM1):c.*2894C>T	SARM1, SLC46A1	Single nucleotide variant (3 prime UTR variant)	Congenital defect of folate absorption	GUncertain significance
Select item 892167	NM_015077.4(SARM1):c.*2699G>A	SARM1, SLC46A1	Single nucleotide variant (3 prime UTR variant)	Congenital defect of folate absorption	GBenign
Select item 892121	NM_015077.4(SARM1):c.*1389G>A	SARM1, SLC46A1	Single nucleotide variant (3 prime UTR variant)	Congenital defect of folate absorption	GUncertain significance
Select item 892120	NM_015077.4(SARM1):c.*1343G>T	SARM1, SLC46A1	Single nucleotide variant (3 prime UTR variant)	Congenital defect of folate absorption	GUncertain significance
Select item 892119	NM_015077.4(SARM1):c.*1153T>C	SARM1, SLC46A1	Single nucleotide variant (3 prime UTR variant)	Congenital defect of folate absorption	GBenign
Select item 892118	NM_015077.4(SARM1):c.*1108C>T	SARM1, SLC46A1	Single nucleotide variant (3 prime UTR variant)	Congenital defect of folate absorption	GUncertain significance
Select item 892077	NM_015077.4(SARM1):c.*91G>A	SARM1, SLC46A1	Single nucleotide variant (3 prime UTR variant)	Congenital defect of folate absorption	GUncertain significance
Select item 892076	NM_015077.4(SARM1):c.2089C>G (p.Arg697Gly)	SARM1, SLC46A1 (R697G)	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital defect of folate absorption	GUncertain significance
Select item 892030	NM_015077.4(SARM1):c.1924-1053A>T	SLC46A1, SARM1	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital defect of folate absorption	GUncertain significance
Select item 891004	NM_080669.6(SLC46A1):c.295T>C (p.Phe99Leu)	SLC46A1 (F99L)	Single nucleotide variant (missense variant)	Congenital defect of folate absorption +1 more	GUncertain significance
Select item 891003	NM_080669.6(SLC46A1):c.389T>C (p.Val130Ala)	SLC46A1 (V130A)	Single nucleotide variant (missense variant)	Congenital defect of folate absorption +1 more	GUncertain significance
Select item 891002	NM_080669.6(SLC46A1):c.501C>G (p.Ser167=)	SLC46A1	Single nucleotide variant (synonymous variant)	Congenital defect of folate absorption	GUncertain significance
Select item 890878	NM_015077.4(SARM1):c.*884A>G	SARM1, SLC46A1	Single nucleotide variant (3 prime UTR variant)	Congenital defect of folate absorption	GUncertain significance
Select item 890877	NM_015077.4(SARM1):c.*646C>G	SARM1, SLC46A1	Single nucleotide variant (3 prime UTR variant)	Congenital defect of folate absorption	GUncertain significance
Select item 890432	NM_080669.6(SLC46A1):c.849G>A (p.Gly283=)	SLC46A1	Single nucleotide variant (synonymous variant)	Congenital defect of folate absorption	GUncertain significance
Select item 890431	NM_080669.6(SLC46A1):c.898G>A (p.Asp300Asn)	SLC46A1 (D300N)	Single nucleotide variant (missense variant)	Congenital defect of folate absorption	GUncertain significance
Select item 890430	NM_080669.6(SLC46A1):c.906A>G (p.Lys302=)	SLC46A1	Single nucleotide variant (synonymous variant)	Congenital defect of folate absorption +1 more	GBenign/Likely benign
Select item 890379	NM_015077.4(SARM1):c.*2121C>T	SARM1, SLC46A1	Single nucleotide variant (3 prime UTR variant)	Congenital defect of folate absorption	GUncertain significance
Select item 890378	NM_015077.4(SARM1):c.*2072C>T	SARM1, SLC46A1	Single nucleotide variant (3 prime UTR variant)	Congenital defect of folate absorption	GUncertain significance
Select item 890377	NM_015077.4(SARM1):c.*2035G>A	SARM1, SLC46A1	Single nucleotide variant (3 prime UTR variant)	Congenital defect of folate absorption	GUncertain significance
Select item 890376	NM_015077.4(SARM1):c.*2034C>T	SARM1, SLC46A1	Single nucleotide variant (3 prime UTR variant)	Congenital defect of folate absorption	GUncertain significance
Select item 890375	NM_015077.4(SARM1):c.*1987T>C	SARM1, SLC46A1	Single nucleotide variant (3 prime UTR variant)	Congenital defect of folate absorption	GUncertain significance
Select item 890320	NM_015077.4(SARM1):c.*624C>T	SARM1, SLC46A1	Single nucleotide variant (3 prime UTR variant)	Congenital defect of folate absorption	GBenign
Select item 890319	NM_015077.4(SARM1):c.*518G>A	SARM1, SLC46A1	Single nucleotide variant (3 prime UTR variant)	Congenital defect of folate absorption	GLikely benign
Select item 890318	NM_015077.4(SARM1):c.*502C>T	SARM1, SLC46A1	Single nucleotide variant (3 prime UTR variant)	Congenital defect of folate absorption	GUncertain significance
Select item 890317	NM_015077.4(SARM1):c.*469G>A	SARM1, SLC46A1	Single nucleotide variant (3 prime UTR variant)	Congenital defect of folate absorption	GUncertain significance
Select item 890272	NM_015077.4(SARM1):c.1924-234T>A	SARM1, SLC46A1	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital defect of folate absorption	GUncertain significance
Select item 890271	NM_015077.4(SARM1):c.1924-284C>T	SARM1, SLC46A1	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital defect of folate absorption	GLikely benign
Select item 890270	NM_015077.4(SARM1):c.1924-320C>T	SARM1, SLC46A1	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital defect of folate absorption	GUncertain significance
Select item 890269	NM_015077.4(SARM1):c.1924-340G>T	SARM1, SLC46A1	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital defect of folate absorption	GUncertain significance
Select item 890268	NM_015077.4(SARM1):c.1924-407C>T	SARM1, SLC46A1	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital defect of folate absorption	GUncertain significance
Select item 888672	NM_015077.4(SARM1):c.*1849C>T	SARM1, SLC46A1	Single nucleotide variant (3 prime UTR variant)	Congenital defect of folate absorption	GUncertain significance
Select item 888671	NM_015077.4(SARM1):c.*1531C>T	SARM1, SLC46A1	Single nucleotide variant (3 prime UTR variant)	Congenital defect of folate absorption	GUncertain significance
Select item 888618	NM_015077.4(SARM1):c.*425C>T	SARM1, SLC46A1	Single nucleotide variant (3 prime UTR variant)	Congenital defect of folate absorption	GUncertain significance
Select item 888617	NM_015077.4(SARM1):c.*250T>C	SARM1, SLC46A1	Single nucleotide variant (3 prime UTR variant)	Congenital defect of folate absorption	GLikely benign
Select item 888569	NM_015077.4(SARM1):c.1924-433A>C	SLC46A1, SARM1	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital defect of folate absorption	GUncertain significance
Select item 888568	NM_015077.4(SARM1):c.1924-667G>A	SARM1, SLC46A1	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital defect of folate absorption	GUncertain significance
Select item 888567	NM_015077.4(SARM1):c.1924-833G>A	SARM1, SLC46A1	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital defect of folate absorption	GBenign
Select item 801406	NM_080669.6(SLC46A1):c.981_982del (p.Tyr327_Cys328delinsTer)	SLC46A1	Deletion (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 769912	NM_080669.6(SLC46A1):c.883A>G (p.Thr295Ala)	SLC46A1 (T295A)	Single nucleotide variant (missense variant)	Congenital defect of folate absorption +3 more	GBenign/Likely benign
Select item 713611	NM_080669.6(SLC46A1):c.972C>T (p.Leu324=)	SLC46A1	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 516669	NM_080669.6(SLC46A1):c.189G>C (p.Arg63Ser)	SLC46A1 (R63S)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 453189	NM_080669.6(SLC46A1):c.1258T>C (p.Phe420Leu)	SARM1, SLC46A1 (F420L +1 more)	Single nucleotide variant (missense variant +1 more)	Congenital defect of folate absorption +1 more	GUncertain significance
Select item 322412	NM_080669.6(SLC46A1):c.-67G>T	LOC130060550, SLC46A1	Single nucleotide variant (5 prime UTR variant)	Congenital defect of folate absorption	GUncertain significance
Select item 322411	NM_080669.6(SLC46A1):c.294C>A (p.Leu98=)	SLC46A1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 322410	NM_080669.6(SLC46A1):c.462C>T (p.Leu154=)	SLC46A1	Single nucleotide variant (synonymous variant)	Congenital defect of folate absorption	GUncertain significance
Select item 322409	NM_080669.6(SLC46A1):c.512T>A (p.Val171Asp)	SLC46A1 (V171D)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 322408	NM_080669.6(SLC46A1):c.642G>A (p.Leu214=)	SLC46A1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 322407	NM_080669.6(SLC46A1):c.667A>T (p.Thr223Ser)	SLC46A1 (T223S)	Single nucleotide variant (missense variant)	Congenital defect of folate absorption	GUncertain significance
Select item 322406	NM_080669.6(SLC46A1):c.752T>C (p.Ile251Thr)	SLC46A1 (I251T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 322405	NM_080669.6(SLC46A1):c.904A>C (p.Lys302Gln)	SLC46A1 (K302Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 322404	NM_080669.6(SLC46A1):c.1367C>T (p.Pro456Leu)	SLC46A1, SARM1 (P456L +1 more)	Single nucleotide variant (missense variant +1 more)	Congenital defect of folate absorption	GUncertain significance
Select item 322403	NM_015077.4(SARM1):c.*3366C>A	SARM1, SLC46A1	Single nucleotide variant (3 prime UTR variant)	Congenital defect of folate absorption	GUncertain significance
Select item 322402	NM_015077.4(SARM1):c.*3359G>A	SARM1, SLC46A1	Single nucleotide variant (3 prime UTR variant)	Congenital defect of folate absorption	GUncertain significance
Select item 322401	NM_015077.4(SARM1):c.*3310C>A	SARM1, SLC46A1	Single nucleotide variant (3 prime UTR variant)	Congenital defect of folate absorption	GLikely benign
Select item 322400	NM_015077.4(SARM1):c.*3280C>T	SARM1, SLC46A1	Single nucleotide variant (3 prime UTR variant)	Congenital defect of folate absorption	GUncertain significance
Select item 322399	NM_015077.4(SARM1):c.*3241G>A	SARM1, SLC46A1	Single nucleotide variant (3 prime UTR variant)	Congenital defect of folate absorption	GUncertain significance
Select item 322398	NM_015077.4(SARM1):c.*3093T>C	SARM1, SLC46A1	Single nucleotide variant (3 prime UTR variant)	Congenital defect of folate absorption	GUncertain significance
Select item 322397	NM_015077.4(SARM1):c.*2678T>A	SARM1, SLC46A1	Single nucleotide variant (3 prime UTR variant)	Congenital defect of folate absorption	GBenign
Select item 322396	NM_015077.4(SARM1):c.*2641C>T	SARM1, SLC46A1	Single nucleotide variant (3 prime UTR variant)	Congenital defect of folate absorption	GBenign
Select item 322395	NM_015077.4(SARM1):c.*2585A>C	SARM1, SLC46A1	Single nucleotide variant (3 prime UTR variant)	Congenital defect of folate absorption	GUncertain significance
Select item 322394	NM_015077.4(SARM1):c.*2535T>C	SARM1, SLC46A1	Single nucleotide variant (3 prime UTR variant)	Congenital defect of folate absorption	GUncertain significance
Select item 322393	NM_015077.4(SARM1):c.*2442T>C	SARM1, SLC46A1	Single nucleotide variant (3 prime UTR variant)	Congenital defect of folate absorption	GBenign
Select item 322392	NM_015077.4(SARM1):c.*2364T>G	SARM1, SLC46A1	Single nucleotide variant (3 prime UTR variant)	Congenital defect of folate absorption	GUncertain significance
Select item 322391	NM_015077.4(SARM1):c.*2308C>T	SARM1, SLC46A1	Single nucleotide variant (3 prime UTR variant)	Congenital defect of folate absorption	GUncertain significance
Select item 322390	NM_015077.4(SARM1):c.*2294C>T	LOC130060548, SARM1 +1 more	Single nucleotide variant (3 prime UTR variant)	Congenital defect of folate absorption	GUncertain significance
Select item 322389	NM_015077.4(SARM1):c.*2276T>C	LOC130060548, SARM1 +1 more	Single nucleotide variant (3 prime UTR variant)	Congenital defect of folate absorption	GUncertain significance
Select item 322388	NM_015077.4(SARM1):c.*2150T>C	SLC46A1, SARM1	Single nucleotide variant (3 prime UTR variant)	Congenital defect of folate absorption	GUncertain significance
Select item 322387	NM_015077.4(SARM1):c.*2127T>C	SARM1, SLC46A1	Single nucleotide variant (3 prime UTR variant)	Congenital defect of folate absorption	GBenign
Select item 322386	NM_015077.4(SARM1):c.*2038C>T	SARM1, SLC46A1	Single nucleotide variant (3 prime UTR variant)	Congenital defect of folate absorption	GLikely benign
Select item 322385	NM_015077.4(SARM1):c.*1978G>T	SARM1, SLC46A1	Single nucleotide variant (3 prime UTR variant)	Congenital defect of folate absorption	GLikely benign
Select item 322384	NM_015077.4(SARM1):c.*1963G>A	SARM1, SLC46A1	Single nucleotide variant (3 prime UTR variant)	Congenital defect of folate absorption	GBenign
Select item 322383	NM_015077.4(SARM1):c.*1743A>T	SARM1, SLC46A1	Single nucleotide variant (3 prime UTR variant)	Congenital defect of folate absorption	GUncertain significance
Select item 322382	NM_015077.4(SARM1):c.*1722C>T	SARM1, SLC46A1	Single nucleotide variant (3 prime UTR variant)	Congenital defect of folate absorption	GLikely benign
Select item 322381	NM_015077.4(SARM1):c.*1721T>C	SARM1, SLC46A1	Single nucleotide variant (3 prime UTR variant)	Congenital defect of folate absorption	GUncertain significance
Select item 322380	NM_015077.4(SARM1):c.*1596T>C	SARM1, SLC46A1	Single nucleotide variant (3 prime UTR variant)	Congenital defect of folate absorption	GBenign
Select item 322379	NM_015077.4(SARM1):c.*1575G>A	SARM1, SLC46A1	Single nucleotide variant (3 prime UTR variant)	Congenital defect of folate absorption	GUncertain significance
Select item 322378	NM_015077.4(SARM1):c.*1539G>T	SARM1, SLC46A1	Single nucleotide variant (3 prime UTR variant)	Congenital defect of folate absorption	GUncertain significance
Select item 322377	NM_015077.4(SARM1):c.*1389G>C	SARM1, SLC46A1	Single nucleotide variant (3 prime UTR variant)	Congenital defect of folate absorption	GUncertain significance
Select item 322376	NM_015077.4(SARM1):c.*1247C>G	SARM1, SLC46A1	Single nucleotide variant (3 prime UTR variant)	Congenital defect of folate absorption	GLikely benign
Select item 322375	NM_015077.4(SARM1):c.*1122A>G	SARM1, SLC46A1	Single nucleotide variant (3 prime UTR variant)	Congenital defect of folate absorption	GBenign
Select item 322374	NM_015077.4(SARM1):c.*1097T>C	SARM1, SLC46A1	Single nucleotide variant (3 prime UTR variant)	Congenital defect of folate absorption	GUncertain significance
Select item 322373	NM_015077.4(SARM1):c.*969C>T	SARM1, SLC46A1	Single nucleotide variant (3 prime UTR variant)	Congenital defect of folate absorption	GUncertain significance
Select item 322372	NM_015077.4(SARM1):c.*877T>C	SARM1, SLC46A1	Single nucleotide variant (3 prime UTR variant)	Congenital defect of folate absorption	GUncertain significance
Select item 322371	NM_015077.4(SARM1):c.*857C>G	SARM1, SLC46A1	Single nucleotide variant (3 prime UTR variant)	Congenital defect of folate absorption	GUncertain significance
Select item 322370	NM_015077.4(SARM1):c.*812G>A	SLC46A1, SARM1	Single nucleotide variant (3 prime UTR variant)	Congenital defect of folate absorption	GUncertain significance
Select item 322369	NM_015077.4(SARM1):c.*734G>T	SARM1, SLC46A1	Single nucleotide variant (3 prime UTR variant)	Congenital defect of folate absorption	GUncertain significance
Select item 322368	NM_015077.4(SARM1):c.*709C>G	SARM1, SLC46A1	Single nucleotide variant (3 prime UTR variant)	Congenital defect of folate absorption	GUncertain significance
Select item 322367	NM_015077.4(SARM1):c.*562C>G	SLC46A1, SARM1	Single nucleotide variant (3 prime UTR variant)	Congenital defect of folate absorption	GUncertain significance

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