"Fulgent Genetics, Fulgent Genetics"[submitter] AND "CYP27B1"[gene] - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 857514	NM_000785.4(CYP27B1):c.1474C>T (p.Arg492Trp)	CYP27B1 (R492W)	Single nucleotide variant (missense variant)	Vitamin D-dependent rickets, type 1A +1 more	GPathogenic/Likely pathogenic
Select item 738075	NM_000785.4(CYP27B1):c.1452G>A (p.Ala484=)	CYP27B1	Single nucleotide variant (synonymous variant)	Vitamin D-dependent rickets, type 1A +1 more	GBenign/Likely benign
Select item 802871	NM_000785.4(CYP27B1):c.1357C>T (p.Arg453Cys)	CYP27B1 (R453C)	Single nucleotide variant (missense variant)	Vitamin D-dependent rickets, type 1A +1 more	GPathogenic/Likely pathogenic
Select item 1668	NM_000785.4(CYP27B1):c.1226C>T (p.Thr409Ile)	CYP27B1 (T409I)	Single nucleotide variant (missense variant)	Vitamin D-dependent rickets, type 1A +1 more	GPathogenic/Likely pathogenic
Select item 1632460	NM_000785.4(CYP27B1):c.1216-18T>G	CYP27B1	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 309997	NM_000785.4(CYP27B1):c.1057C>G (p.Pro353Ala)	CYP27B1 (P353A)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1334151	NM_000785.4(CYP27B1):c.974C>T (p.Thr325Met)	CYP27B1 (T325M)	Single nucleotide variant (missense variant)	Vitamin D-dependent rickets, type 1A +1 more	GUncertain significance
Select item 1094471	NM_000785.4(CYP27B1):c.690G>A (p.Val230=)	CYP27B1	Single nucleotide variant (synonymous variant)	Vitamin D-dependent rickets, type 1A +2 more	GLikely benign
Select item 310001	NM_000785.4(CYP27B1):c.541G>T (p.Ala181Ser)	CYP27B1 (A181S)	Single nucleotide variant (missense variant)	Vitamin D-dependent rickets, type 1 +3 more	GConflicting classifications of pathogenicity
Select item 1443676	NM_000785.4(CYP27B1):c.511C>T (p.Arg171Cys)	CYP27B1 (R171C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 882266	NM_000785.4(CYP27B1):c.454G>A (p.Ala152Thr)	CYP27B1 (A152T)	Single nucleotide variant (missense variant)	Vitamin D-dependent rickets, type 1A +1 more	GUncertain significance
Select item 752739	NM_000785.4(CYP27B1):c.387-8C>A	CYP27B1	Single nucleotide variant (intron variant)	Vitamin D-dependent rickets, type 1A +1 more	GLikely benign
Select item 1638552	NM_000785.4(CYP27B1):c.386+14G>A	CYP27B1	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 1564340	NM_000785.4(CYP27B1):c.386+14G>T	CYP27B1	Single nucleotide variant (intron variant)	Vitamin D-dependent rickets, type 1A +1 more	GBenign
Select item 1167225	NM_000785.4(CYP27B1):c.330C>T (p.Phe110=)	CYP27B1	Single nucleotide variant (synonymous variant)	Vitamin D-dependent rickets, type 1A +1 more	GBenign/Likely benign
Select item 723672	NM_000785.4(CYP27B1):c.54G>A (p.Ala18=)	CYP27B1	Single nucleotide variant (synonymous variant)	Vitamin D-dependent rickets, type 1A +1 more	GLikely benign
Select item 934616	NM_000785.4(CYP27B1):c.41G>A (p.Arg14His)	CYP27B1 (R14H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 310004	NM_000785.4(CYP27B1):c.40C>T (p.Arg14Cys)	CYP27B1 (R14C)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance