LOC130060550[gene] - ClinVar - NCBI

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Items: 17

	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 2158027	NM_080669.6(SLC46A1):c.54C>G (p.Ala18=)	LOC130060550, SLC46A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1509793	NM_080669.6(SLC46A1):c.44C>T (p.Pro15Leu)	LOC130060550, SLC46A1 (P15L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1477019	NM_080669.6(SLC46A1):c.43C>T (p.Pro15Ser)	SLC46A1, LOC130060550 (P15S)	Single nucleotide variant (missense variant)	Congenital defect of folate absorption +1 more	GUncertain significance
Select item 2816995	NM_080669.6(SLC46A1):c.39C>T (p.Ala13=)	LOC130060550, SLC46A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1462338	NM_080669.6(SLC46A1):c.37G>C (p.Ala13Pro)	LOC130060550, SLC46A1 (A13P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 30922	NM_080669.6(SLC46A1):c.23dup (p.Glu9fs)	LOC130060550, SLC46A1 (E9fs)	Duplication (frameshift variant)	Congenital defect of folate absorption	GPathogenic
Select item 1947066	NM_080669.6(SLC46A1):c.23C>T (p.Pro8Leu)	SLC46A1, LOC130060550 (P8L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 193480	NM_080669.6(SLC46A1):c.22C>T (p.Pro8Ser)	LOC130060550, SLC46A1 (P8S)	Single nucleotide variant (missense variant)	Congenital defect of folate absorption +3 more	GConflicting classifications of pathogenicity
Select item 1521615	NM_080669.6(SLC46A1):c.20C>A (p.Pro7His)	LOC130060550, SLC46A1 (P7H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1355855	NM_080669.6(SLC46A1):c.19C>G (p.Pro7Ala)	LOC130060550, SLC46A1 (P7A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1614359	NM_080669.6(SLC46A1):c.18C>T (p.Ser6=)	LOC130060550, SLC46A1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2080331	NM_080669.6(SLC46A1):c.11G>A (p.Ser4Asn)	LOC130060550, SLC46A1 (S4N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3033001	NM_080669.6(SLC46A1):c.9G>T (p.Gly3=)	LOC130060550, SLC46A1	Single nucleotide variant (synonymous variant)	SLC46A1-related disorder	GLikely benign
Select item 3233965	NM_080669.6(SLC46A1):c.3G>A (p.Met1Ile)	LOC130060550, SLC46A1 (M1I)	Single nucleotide variant (missense variant +1 more)	Congenital defect of folate absorption +2 more	GLikely pathogenic
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 322412	NM_080669.6(SLC46A1):c.-67G>T	LOC130060550, SLC46A1	Single nucleotide variant (5 prime UTR variant)	Congenital defect of folate absorption	GUncertain significance