Related gene-specific medical variations for Gene (Select 284498) - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 292205	NM_001010881.2(C1orf167):c.4174-121G>A	C1orf167, MTHFR	Single nucleotide variant (3 prime UTR variant +1 more)	Neural tube defects, folate-sensitive	GUncertain significance
Select item 292197	NM_001010881.2(C1orf167):c.3924C>T (p.His1308=)	C1orf167, MTHFR	Single nucleotide variant (synonymous variant +1 more)	Neural tube defects, folate-sensitive	GUncertain significance
Select item 292196	NM_001010881.2(C1orf167):c.3906_3908del (p.Leu1303del)	C1orf167, MTHFR (L1303del)	Deletion (inframe_deletion +1 more)	Neural tube defects, folate-sensitive	GUncertain significance
Select item 292189	NM_001010881.2(C1orf167):c.3824G>A (p.Ser1275Asn)	C1orf167, MTHFR (S1275N)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 292167	NM_001010881.2(C1orf167):c.3568-768_3568-765del	C1orf167, MTHFR	Deletion (3 prime UTR variant +1 more)	Neural tube defects, folate-sensitive	GUncertain significance
Select item 292166	NM_001010881.2(C1orf167):c.3568-768_3568-767dup	C1orf167, MTHFR	Duplication (3 prime UTR variant +1 more)	Neural tube defects, folate-sensitive	GUncertain significance
Select item 292165	NM_001010881.2(C1orf167):c.3568-774_3568-767del	C1orf167, MTHFR	Deletion (3 prime UTR variant +1 more)	Neural tube defects, folate-sensitive	GUncertain significance
Select item 292164	NM_001010881.2(C1orf167):c.3568-770_3568-767del	C1orf167, MTHFR	Deletion (3 prime UTR variant +1 more)	Neural tube defects, folate-sensitive	GLikely benign
Select item 292157	NM_001010881.2(C1orf167):c.3567+902A>G	C1orf167, MTHFR	Single nucleotide variant (3 prime UTR variant +1 more)	Neural tube defects, folate-sensitive	GUncertain significance
Select item 292153	NM_001010881.2(C1orf167):c.3567+757dup	C1orf167, MTHFR	Duplication (3 prime UTR variant +1 more)	Neural tube defects, folate-sensitive	GBenign