ClinVar for MedGen (Select 124344) - ClinVar

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Items: 46

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1339455	NM_000785.4(CYP27B1):c.1160A>C (p.Asn387Thr)	CYP27B1 (N387T)	Single nucleotide variant (missense variant)	Vitamin D-dependent rickets, type 1	GLikely pathogenic
Select item 1339454	NM_000785.4(CYP27B1):c.623G>T (p.Gly208Val)	CYP27B1 (G208V)	Single nucleotide variant (missense variant)	Vitamin D-dependent rickets, type 1	GLikely pathogenic
Select item 1339453	NM_000785.4(CYP27B1):c.386C>T (p.Ala129Val)	CYP27B1 (A129V)	Single nucleotide variant (missense variant)	Vitamin D-dependent rickets, type 1	GLikely pathogenic
Select item 884182	NM_000785.4(CYP27B1):c.*77G>A	CYP27B1	Single nucleotide variant (3 prime UTR variant)	Vitamin D-dependent rickets, type 1	GLikely benign
Select item 884181	NM_000785.4(CYP27B1):c.*143G>A	CYP27B1	Single nucleotide variant (3 prime UTR variant)	Vitamin D-dependent rickets, type 1	GUncertain significance
Select item 884180	NM_000785.4(CYP27B1):c.*215G>C	CYP27B1	Single nucleotide variant (3 prime UTR variant)	Vitamin D-dependent rickets, type 1	GUncertain significance
Select item 884179	NM_000785.4(CYP27B1):c.*329T>C	CYP27B1	Single nucleotide variant (3 prime UTR variant)	Vitamin D-dependent rickets, type 1	GUncertain significance
Select item 884178	NM_000785.4(CYP27B1):c.*345T>C	CYP27B1	Single nucleotide variant (3 prime UTR variant)	Vitamin D-dependent rickets, type 1	GUncertain significance
Select item 884177	NM_000785.4(CYP27B1):c.*415G>A	CYP27B1	Single nucleotide variant (3 prime UTR variant)	Vitamin D-dependent rickets, type 1	GLikely benign
Select item 882532	NM_000785.4(CYP27B1):c.117C>T (p.Asp39=)	CYP27B1	Single nucleotide variant (synonymous variant)	Vitamin D-dependent rickets, type 1 +1 more	GConflicting classifications of pathogenicity
Select item 882531	NM_000785.4(CYP27B1):c.318G>A (p.Glu106=)	CYP27B1	Single nucleotide variant (synonymous variant)	Vitamin D-dependent rickets, type 1 +1 more	GConflicting classifications of pathogenicity
Select item 882469	NM_000785.4(CYP27B1):c.*426T>C	CYP27B1	Single nucleotide variant (3 prime UTR variant)	Vitamin D-dependent rickets, type 1	GUncertain significance
Select item 882468	NM_000785.4(CYP27B1):c.*764T>A	CYP27B1	Single nucleotide variant (3 prime UTR variant)	Vitamin D-dependent rickets, type 1	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 882265	NM_000785.4(CYP27B1):c.496G>C (p.Val166Leu)	CYP27B1 (V166L)	Single nucleotide variant (missense variant)	Vitamin D-dependent rickets, type 1 +1 more	GBenign
Select item 880899	NM_000785.4(CYP27B1):c.942G>A (p.Leu314=)	CYP27B1	Single nucleotide variant (synonymous variant)	Vitamin D-dependent rickets, type 1 +1 more	GBenign/Likely benign
Select item 880898	NM_000785.4(CYP27B1):c.1230G>C (p.Leu410=)	CYP27B1	Single nucleotide variant (synonymous variant)	Vitamin D-dependent rickets, type 1 +1 more	GConflicting classifications of pathogenicity
Select item 880897	NM_000785.4(CYP27B1):c.1286G>A (p.Arg429His)	CYP27B1 (R429H)	Single nucleotide variant (missense variant)	Vitamin D-dependent rickets, type 1A +1 more	GConflicting classifications of pathogenicity
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 749237	NM_000785.4(CYP27B1):c.386+10C>T	CYP27B1	Single nucleotide variant (intron variant)	Vitamin D-dependent rickets, type 1 +1 more	GConflicting classifications of pathogenicity
Select item 632195	NM_000785.4(CYP27B1):c.750G>A (p.Trp250Ter)	CYP27B1 (W250*)	Single nucleotide variant (nonsense)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 522958	NM_000785.4(CYP27B1):c.1375C>T (p.Arg459Cys)	CYP27B1 (R459C)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 427832	NM_000785.3(CYP27B1):c.[1319_1325dupCCCACCC];[1358G>A]			Vitamin D-dependent rickets, type 1	GPathogenic
Select item 380287	NM_000785.4(CYP27B1):c.305G>A (p.Gly102Glu)	CYP27B1 (G102E)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 310005	NM_000785.4(CYP27B1):c.-22C>G	CYP27B1	Single nucleotide variant (5 prime UTR variant)	Vitamin D-dependent rickets, type 1	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
Select item 310003	NM_000785.4(CYP27B1):c.348C>T (p.His116=)	CYP27B1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 310002	NM_000785.4(CYP27B1):c.437T>A (p.Leu146His)	CYP27B1 (L146H)	Single nucleotide variant (missense variant)	Vitamin D-dependent rickets, type 1	GUncertain significance
Select item 310001	NM_000785.4(CYP27B1):c.541G>T (p.Ala181Ser)	CYP27B1 (A181S)	Single nucleotide variant (missense variant)	Vitamin D-dependent rickets, type 1A +3 more	GConflicting classifications of pathogenicity
Select item 310000	NM_000785.4(CYP27B1):c.788T>G (p.Phe263Cys)	CYP27B1 (F263C)	Single nucleotide variant (missense variant)	Vitamin D-dependent rickets, type 1	GUncertain significance
Select item 309999	NM_000785.4(CYP27B1):c.794A>T (p.Gln265Leu)	CYP27B1 (Q265L)	Single nucleotide variant (missense variant)	Vitamin D-dependent rickets, type 1	GUncertain significance
Select item 309998	NM_000785.4(CYP27B1):c.801C>T (p.His267=)	CYP27B1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 309997	NM_000785.4(CYP27B1):c.1057C>G (p.Pro353Ala)	CYP27B1 (P353A)	Single nucleotide variant (missense variant)	CYP27B1-related condition +3 more	GConflicting classifications of pathogenicity
Select item 309996	NM_000785.4(CYP27B1):c.1385A>T (p.Glu462Val)	CYP27B1 (E462V)	Single nucleotide variant (missense variant)	Vitamin D-dependent rickets, type 1	GUncertain significance
Select item 309995	NM_000785.4(CYP27B1):c.1505A>G (p.Asn502Ser)	CYP27B1 (N502S)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 309994	NM_000785.4(CYP27B1):c.*76G>A	CYP27B1	Single nucleotide variant (3 prime UTR variant)	Vitamin D-dependent rickets, type 1	GUncertain significance
Select item 309993	NM_000785.4(CYP27B1):c.*295G>A	CYP27B1	Single nucleotide variant (3 prime UTR variant)	Vitamin D-dependent rickets, type 1	GUncertain significance
Select item 309992	NM_000785.4(CYP27B1):c.*301T>C	CYP27B1	Single nucleotide variant (3 prime UTR variant)	Vitamin D-dependent rickets, type 1	GUncertain significance
Select item 309990	NM_000785.4(CYP27B1):c.*446G>A	CYP27B1	Single nucleotide variant (3 prime UTR variant)	Vitamin D-dependent rickets, type 1	GUncertain significance
Select item 309989	NM_000785.4(CYP27B1):c.*472C>A	CYP27B1	Single nucleotide variant (3 prime UTR variant)	Vitamin D-dependent rickets, type 1	GUncertain significance
Select item 309988	NM_000785.4(CYP27B1):c.*635G>A	CYP27B1	Single nucleotide variant (3 prime UTR variant)	Vitamin D-dependent rickets, type 1	GUncertain significance
Select item 309987	NM_000785.4(CYP27B1):c.*722C>G	CYP27B1	Single nucleotide variant (3 prime UTR variant)	Vitamin D-dependent rickets, type 1	GUncertain significance
Select item 279798	NM_000785.4(CYP27B1):c.1319_1325dup (p.Phe443fs)	CYP27B1 (F443fs)	Microsatellite (frameshift variant)	Vitamin D-dependent rickets, type 1A +2 more	GPathogenic
Select item 2134	NM_024514.5(CYP2R1):c.296T>C (p.Leu99Pro)	CYP2R1 (L99P +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 1669	NM_000785.4(CYP27B1):c.1166G>A (p.Arg389His)	CYP27B1 (R389H)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1658	NM_000785.4(CYP27B1):c.320G>A (p.Arg107His)	CYP27B1 (R107H)	Single nucleotide variant (missense variant)	Vitamin D-dependent rickets, type 1	GLikely pathogenic

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Items: 46