SLC46A1[gene] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 361

<< First< Prev

Page of 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 147274	GRCh38/hg38 17q11.2(chr17:28283125-28904397)x3	ALDOC, BLTP2 +88 more	Copy number gain	See cases	GBenign
Select item 322335	NM_080669.6(SLC46A1):c.*4884G>T	SARM1, SLC46A1	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital defect of folate absorption +1 more	GBenign
Select item 892030	NM_080669.6(SLC46A1):c.*4804T>A	SARM1, SLC46A1	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital defect of folate absorption	GUncertain significance
Select item 322336	NM_080669.6(SLC46A1):c.*4780C>T	SARM1, SLC46A1	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital defect of folate absorption +1 more	GBenign
Select item 322337	NM_080669.6(SLC46A1):c.*4742A>G	SLC46A1, SARM1	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital defect of folate absorption	GUncertain significance
Select item 322338	NM_080669.6(SLC46A1):c.*4729del	SARM1, SLC46A1	Deletion (3 prime UTR variant +1 more)	Congenital defect of folate absorption	GUncertain significance
Select item 322339	NM_080669.6(SLC46A1):c.*4661G>A	SARM1, SLC46A1	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital defect of folate absorption	GUncertain significance
Select item 322342	NM_080669.6(SLC46A1):c.4634_4635dup	SARM1, SLC46A1	Duplication (3 prime UTR variant +1 more)	Congenital defect of folate absorption	GUncertain significance
Select item 322341	NM_080669.6(SLC46A1):c.*4635dup	SARM1, SLC46A1	Duplication (3 prime UTR variant +1 more)	Congenital defect of folate absorption	GBenign
Select item 322340	NM_080669.6(SLC46A1):c.*4636C>T	SARM1, SLC46A1	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital defect of folate absorption	GUncertain significance
Select item 888567	NM_080669.6(SLC46A1):c.*4584C>T	SARM1, SLC46A1	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital defect of folate absorption	GBenign
Select item 888568	NM_080669.6(SLC46A1):c.*4418C>T	SARM1, SLC46A1	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital defect of folate absorption	GUncertain significance
Select item 322343	NM_080669.6(SLC46A1):c.*4323C>G	SARM1, SLC46A1	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital defect of folate absorption	GUncertain significance
Select item 322344	NM_080669.6(SLC46A1):c.*4320A>G	SARM1, SLC46A1	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital defect of folate absorption	GUncertain significance
Select item 322345	NM_080669.6(SLC46A1):c.*4316C>G	SARM1, SLC46A1	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital defect of folate absorption +1 more	GLikely benign
Select item 888569	NM_080669.6(SLC46A1):c.*4184T>G	SARM1, SLC46A1	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital defect of folate absorption	GUncertain significance
Select item 890268	NM_080669.6(SLC46A1):c.*4158G>A	SARM1, SLC46A1	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital defect of folate absorption	GUncertain significance
Select item 890269	NM_080669.6(SLC46A1):c.*4091C>A	SARM1, SLC46A1	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital defect of folate absorption	GUncertain significance
Select item 890270	NM_080669.6(SLC46A1):c.*4071G>A	SARM1, SLC46A1	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital defect of folate absorption	GUncertain significance
Select item 890271	NM_080669.6(SLC46A1):c.*4035G>A	SARM1, SLC46A1	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital defect of folate absorption	GLikely benign
Select item 322346	NM_080669.6(SLC46A1):c.*4030C>T	SARM1, SLC46A1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 890272	NM_080669.6(SLC46A1):c.*3985A>T	SLC46A1, SARM1	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital defect of folate absorption	GUncertain significance
Select item 322347	NM_080669.6(SLC46A1):c.*3959C>G	SLC46A1, SARM1	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital defect of folate absorption	GUncertain significance
Select item 322348	NM_080669.6(SLC46A1):c.*3947G>A	SARM1, SLC46A1	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital defect of folate absorption +1 more	GBenign
Select item 322349	NM_080669.6(SLC46A1):c.*3913A>T	SLC46A1, SARM1	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital defect of folate absorption	GUncertain significance
Select item 322350	NM_080669.6(SLC46A1):c.*3789C>A	SARM1, SLC46A1	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital defect of folate absorption	GUncertain significance
Select item 322351	NM_080669.6(SLC46A1):c.*3785T>C	SARM1, SLC46A1	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital defect of folate absorption +1 more	GBenign
Select item 322352	NM_080669.6(SLC46A1):c.*3677C>G	SLC46A1, SARM1 (Q666H)	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital defect of folate absorption	GUncertain significance
Select item 322353	NM_080669.6(SLC46A1):c.*3661T>C	SARM1, SLC46A1 (M672V)	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital defect of folate absorption	GUncertain significance
Select item 322354	NM_080669.6(SLC46A1):c.*3603C>T	SARM1, SLC46A1	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital defect of folate absorption	GUncertain significance
Select item 892076	NM_080669.6(SLC46A1):c.*3456G>C	SARM1, SLC46A1 (R697G)	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital defect of folate absorption	GUncertain significance
Select item 322355	NM_080669.6(SLC46A1):c.*3402A>G	SARM1, SLC46A1	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital defect of folate absorption	GUncertain significance
Select item 322356	NM_080669.6(SLC46A1):c.*3389G>A	SARM1, SLC46A1 (A719V)	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital defect of folate absorption	GUncertain significance
Select item 322357	NM_080669.6(SLC46A1):c.*3302A>G	SARM1, SLC46A1	Single nucleotide variant (3 prime UTR variant)	Congenital defect of folate absorption	GUncertain significance
Select item 892077	NM_080669.6(SLC46A1):c.*3279C>T	SARM1, SLC46A1	Single nucleotide variant (3 prime UTR variant)	Congenital defect of folate absorption	GUncertain significance
Select item 322358	NM_080669.6(SLC46A1):c.*3266G>A	SARM1, SLC46A1	Single nucleotide variant (3 prime UTR variant)	Congenital defect of folate absorption +1 more	GBenign
Select item 322359	NM_080669.6(SLC46A1):c.*3203A>G	SARM1, SLC46A1	Single nucleotide variant (3 prime UTR variant)	Congenital defect of folate absorption	GUncertain significance
Select item 322360	NM_080669.6(SLC46A1):c.*3135A>G	SARM1, SLC46A1	Single nucleotide variant (3 prime UTR variant)	Congenital defect of folate absorption	GUncertain significance
Select item 888617	NM_080669.6(SLC46A1):c.*3120A>G	SARM1, SLC46A1	Single nucleotide variant (3 prime UTR variant)	Congenital defect of folate absorption	GLikely benign
Select item 322361	NM_080669.6(SLC46A1):c.*3062C>A	SARM1, SLC46A1	Single nucleotide variant (3 prime UTR variant)	Congenital defect of folate absorption +1 more	GBenign
Select item 322363	NM_080669.6(SLC46A1):c.*3009G>A	SARM1, SLC46A1	Single nucleotide variant (3 prime UTR variant)	Congenital defect of folate absorption	GUncertain significance
Select item 322362	NM_080669.6(SLC46A1):c.*3009=	SARM1, SLC46A1	Single nucleotide variant (no sequence alteration)	Congenital defect of folate absorption +1 more	GBenign
Select item 322364	NM_080669.6(SLC46A1):c.*2968C>T	SLC46A1, SARM1	Single nucleotide variant (3 prime UTR variant)	Congenital defect of folate absorption	GBenign
Select item 888618	NM_080669.6(SLC46A1):c.*2945G>A	SARM1, SLC46A1	Single nucleotide variant (3 prime UTR variant)	Congenital defect of folate absorption	GUncertain significance
Select item 890317	NM_080669.6(SLC46A1):c.*2901C>T	SARM1, SLC46A1	Single nucleotide variant (3 prime UTR variant)	Congenital defect of folate absorption	GUncertain significance
Select item 890318	NM_080669.6(SLC46A1):c.*2868G>A	SARM1, SLC46A1	Single nucleotide variant (3 prime UTR variant)	Congenital defect of folate absorption	GUncertain significance
Select item 322365	NM_080669.6(SLC46A1):c.*2853G>A	SARM1, SLC46A1	Single nucleotide variant (3 prime UTR variant)	Congenital defect of folate absorption +1 more	GBenign
Select item 890319	NM_080669.6(SLC46A1):c.*2852C>T	SARM1, SLC46A1	Single nucleotide variant (3 prime UTR variant)	Congenital defect of folate absorption	GLikely benign
Select item 322366	NM_080669.6(SLC46A1):c.*2843G>A	SLC46A1, SARM1	Single nucleotide variant (3 prime UTR variant)	Congenital defect of folate absorption	GBenign
Select item 322367	NM_080669.6(SLC46A1):c.*2808G>C	SARM1, SLC46A1	Single nucleotide variant (3 prime UTR variant)	Congenital defect of folate absorption	GUncertain significance
Select item 890320	NM_080669.6(SLC46A1):c.*2746G>A	SARM1, SLC46A1	Single nucleotide variant (3 prime UTR variant)	Congenital defect of folate absorption	GBenign
Select item 890877	NM_080669.6(SLC46A1):c.*2724G>C	SARM1, SLC46A1	Single nucleotide variant (3 prime UTR variant)	Congenital defect of folate absorption	GUncertain significance
Select item 322368	NM_080669.6(SLC46A1):c.*2661G>C	SARM1, SLC46A1	Single nucleotide variant (3 prime UTR variant)	Congenital defect of folate absorption	GUncertain significance
Select item 322369	NM_080669.6(SLC46A1):c.*2636C>A	SARM1, SLC46A1	Single nucleotide variant (3 prime UTR variant)	Congenital defect of folate absorption	GUncertain significance
Select item 322370	NM_080669.6(SLC46A1):c.*2558C>T	SARM1, SLC46A1	Single nucleotide variant (3 prime UTR variant)	Congenital defect of folate absorption	GUncertain significance
Select item 322371	NM_080669.6(SLC46A1):c.*2513G>C	SLC46A1, SARM1	Single nucleotide variant (3 prime UTR variant)	Congenital defect of folate absorption	GUncertain significance
Select item 322372	NM_080669.6(SLC46A1):c.*2493A>G	SARM1, SLC46A1	Single nucleotide variant (3 prime UTR variant)	Congenital defect of folate absorption	GUncertain significance
Select item 890878	NM_080669.6(SLC46A1):c.*2486T>C	SLC46A1, SARM1	Single nucleotide variant (3 prime UTR variant)	Congenital defect of folate absorption	GUncertain significance
Select item 322373	NM_080669.6(SLC46A1):c.*2401G>A	SARM1, SLC46A1	Single nucleotide variant (3 prime UTR variant)	Congenital defect of folate absorption	GUncertain significance
Select item 322374	NM_080669.6(SLC46A1):c.*2273A>G	SARM1, SLC46A1	Single nucleotide variant (3 prime UTR variant)	Congenital defect of folate absorption	GUncertain significance
Select item 892118	NM_080669.6(SLC46A1):c.*2262G>A	SARM1, SLC46A1	Single nucleotide variant (3 prime UTR variant)	Congenital defect of folate absorption	GUncertain significance
Select item 322375	NM_080669.6(SLC46A1):c.*2248T>C	SARM1, SLC46A1	Single nucleotide variant (3 prime UTR variant)	Congenital defect of folate absorption	GBenign
Select item 892119	NM_080669.6(SLC46A1):c.*2217A>G	SARM1, SLC46A1	Single nucleotide variant (3 prime UTR variant)	Congenital defect of folate absorption	GBenign
Select item 322376	NM_080669.6(SLC46A1):c.*2123G>C	SARM1, SLC46A1	Single nucleotide variant (3 prime UTR variant)	Congenital defect of folate absorption	GLikely benign
Select item 892120	NM_080669.6(SLC46A1):c.*2027C>A	SARM1, SLC46A1	Single nucleotide variant (3 prime UTR variant)	Congenital defect of folate absorption	GUncertain significance
Select item 892121	NM_080669.6(SLC46A1):c.*1981C>T	SARM1, SLC46A1	Single nucleotide variant (3 prime UTR variant)	Congenital defect of folate absorption	GUncertain significance
Select item 322377	NM_080669.6(SLC46A1):c.*1981C>G	SARM1, SLC46A1	Single nucleotide variant (3 prime UTR variant)	Congenital defect of folate absorption	GUncertain significance
Select item 888671	NM_080669.6(SLC46A1):c.*1839G>A	SARM1, SLC46A1	Single nucleotide variant (3 prime UTR variant)	Congenital defect of folate absorption	GUncertain significance
Select item 322378	NM_080669.6(SLC46A1):c.*1831C>A	SARM1, SLC46A1	Single nucleotide variant (3 prime UTR variant)	Congenital defect of folate absorption	GUncertain significance
Select item 322379	NM_080669.6(SLC46A1):c.*1795C>T	SARM1, SLC46A1	Single nucleotide variant (3 prime UTR variant)	Congenital defect of folate absorption	GUncertain significance
Select item 322380	NM_080669.6(SLC46A1):c.*1774A>G	SARM1, SLC46A1	Single nucleotide variant (3 prime UTR variant)	Congenital defect of folate absorption	GBenign
Select item 322381	NM_080669.6(SLC46A1):c.*1649A>G	SARM1, SLC46A1	Single nucleotide variant (3 prime UTR variant)	Congenital defect of folate absorption	GUncertain significance
Select item 322382	NM_080669.6(SLC46A1):c.*1648G>A	SARM1, SLC46A1	Single nucleotide variant (3 prime UTR variant)	Congenital defect of folate absorption	GLikely benign
Select item 322383	NM_080669.6(SLC46A1):c.*1627T>A	SLC46A1, SARM1	Single nucleotide variant (3 prime UTR variant)	Congenital defect of folate absorption	GUncertain significance
Select item 888672	NM_080669.6(SLC46A1):c.*1521G>A	SARM1, SLC46A1	Single nucleotide variant (3 prime UTR variant)	Congenital defect of folate absorption	GUncertain significance
Select item 322384	NM_080669.6(SLC46A1):c.*1407C>T	SARM1, SLC46A1	Single nucleotide variant (3 prime UTR variant)	Congenital defect of folate absorption +1 more	GBenign
Select item 322385	NM_080669.6(SLC46A1):c.*1392C>A	SARM1, SLC46A1	Single nucleotide variant (3 prime UTR variant)	Congenital defect of folate absorption	GLikely benign
Select item 890375	NM_080669.6(SLC46A1):c.*1383A>G	SARM1, SLC46A1	Single nucleotide variant (3 prime UTR variant)	Congenital defect of folate absorption	GUncertain significance
Select item 890376	NM_080669.6(SLC46A1):c.*1336G>A	SLC46A1, SARM1	Single nucleotide variant (3 prime UTR variant)	Congenital defect of folate absorption	GUncertain significance
Select item 890377	NM_080669.6(SLC46A1):c.*1335C>T	SARM1, SLC46A1	Single nucleotide variant (3 prime UTR variant)	Congenital defect of folate absorption	GUncertain significance
Select item 322386	NM_080669.6(SLC46A1):c.*1332G>A	SARM1, SLC46A1	Single nucleotide variant (3 prime UTR variant)	Congenital defect of folate absorption	GLikely benign
Select item 890378	NM_080669.6(SLC46A1):c.*1298G>A	SARM1, SLC46A1	Single nucleotide variant (3 prime UTR variant)	Congenital defect of folate absorption	GUncertain significance
Select item 890379	NM_080669.6(SLC46A1):c.*1249G>A	SARM1, SLC46A1	Single nucleotide variant (3 prime UTR variant)	Congenital defect of folate absorption	GUncertain significance
Select item 322387	NM_080669.6(SLC46A1):c.*1243A>G	SLC46A1, SARM1	Single nucleotide variant (3 prime UTR variant)	Congenital defect of folate absorption	GBenign
Select item 322388	NM_080669.6(SLC46A1):c.*1220A>G	SARM1, SLC46A1	Single nucleotide variant (3 prime UTR variant)	Congenital defect of folate absorption	GUncertain significance
Select item 322389	NM_080669.6(SLC46A1):c.*1094A>G	LOC130060548, SARM1 +1 more	Single nucleotide variant (3 prime UTR variant)	Congenital defect of folate absorption	GUncertain significance
Select item 322390	NM_080669.6(SLC46A1):c.*1076G>A	LOC130060548, SARM1 +1 more	Single nucleotide variant (3 prime UTR variant)	Congenital defect of folate absorption	GUncertain significance
Select item 322391	NM_080669.6(SLC46A1):c.*1062G>A	SLC46A1, SARM1	Single nucleotide variant (3 prime UTR variant)	Congenital defect of folate absorption	GUncertain significance
Select item 322392	NM_080669.6(SLC46A1):c.*1006A>C	SARM1, SLC46A1	Single nucleotide variant (3 prime UTR variant)	Congenital defect of folate absorption	GUncertain significance
Select item 322393	NM_080669.6(SLC46A1):c.*928A>G	SARM1, SLC46A1	Single nucleotide variant (3 prime UTR variant)	Congenital defect of folate absorption +1 more	GBenign
Select item 322394	NM_080669.6(SLC46A1):c.*835A>G	SARM1, SLC46A1	Single nucleotide variant (3 prime UTR variant)	Congenital defect of folate absorption	GUncertain significance
Select item 322395	NM_080669.6(SLC46A1):c.*785T>G	SARM1, SLC46A1	Single nucleotide variant (3 prime UTR variant)	Congenital defect of folate absorption	GUncertain significance
Select item 322396	NM_080669.6(SLC46A1):c.*729G>A	SARM1, SLC46A1	Single nucleotide variant (3 prime UTR variant)	Congenital defect of folate absorption	GBenign
Select item 322397	NM_080669.6(SLC46A1):c.*692A>T	SARM1, SLC46A1	Single nucleotide variant (3 prime UTR variant)	Congenital defect of folate absorption	GBenign
Select item 892167	NM_080669.6(SLC46A1):c.*671C>T	SARM1, SLC46A1	Single nucleotide variant (3 prime UTR variant)	Congenital defect of folate absorption	GBenign
Select item 892168	NM_080669.6(SLC46A1):c.*476G>A	SARM1, SLC46A1	Single nucleotide variant (3 prime UTR variant)	Congenital defect of folate absorption	GUncertain significance
Select item 892169	NM_080669.6(SLC46A1):c.*351C>T	SARM1, SLC46A1	Single nucleotide variant (3 prime UTR variant)	Congenital defect of folate absorption	GUncertain significance
Select item 892170	NM_080669.6(SLC46A1):c.*297C>T	SARM1, SLC46A1	Single nucleotide variant (3 prime UTR variant)	Congenital defect of folate absorption	GUncertain significance
Select item 322398	NM_080669.6(SLC46A1):c.*277A>G	SARM1, SLC46A1	Single nucleotide variant (3 prime UTR variant)	Congenital defect of folate absorption	GUncertain significance
Select item 322399	NM_080669.6(SLC46A1):c.*129C>T	SARM1, SLC46A1	Single nucleotide variant (3 prime UTR variant)	Congenital defect of folate absorption	GUncertain significance

<< First< Prev

Page of 4