C0342646[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[su - ClinVar

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Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 11877	NM_002769.5(PRSS1):c.86A>T (p.Asn29Ile)	PRSS1, TRB (N29I)	Single nucleotide variant (missense variant)	Hereditary pancreatitis +3 more	GPathogenic
Select item 796847	NM_000376.3(VDR):c.1206C>A (p.Arg402=)	VDR	Single nucleotide variant (synonymous variant)	Vitamin D-dependent rickets type II with alopecia +1 more	GBenign/Likely benign
Select item 1037220	NM_000376.3(VDR):c.1045G>A (p.Ala349Thr)	VDR (A399T +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 860001	NM_000376.3(VDR):c.1016T>C (p.Val339Ala)	VDR (V339A +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 1555177	NM_000376.3(VDR):c.897C>T (p.Asp299=)	VDR	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 308882	NM_000376.3(VDR):c.889G>A (p.Val297Ile)	VDR (V297I +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1516080	NM_000376.3(VDR):c.781G>A (p.Val261Ile)	VDR (V311I +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1056222	NM_000376.3(VDR):c.565C>A (p.His189Asn)	VDR (H189N +1 more)	Single nucleotide variant (missense variant)	Vitamin D-dependent rickets type II with alopecia +1 more	GUncertain significance
Select item 1432897	NM_000376.3(VDR):c.519A>T (p.Arg173Ser)	VDR (R173S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 962188	NM_000376.3(VDR):c.361C>T (p.Arg121Trp)	VDR (R121W +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 880996	NM_000376.3(VDR):c.311G>A (p.Arg104Gln)	VDR (R104Q +1 more)	Single nucleotide variant (missense variant)	Vitamin D-dependent rickets type II with alopecia +1 more	GUncertain significance
Select item 64425	NM_000376.3(VDR):c.259A>G (p.Ile87Val)	VDR (I87V +1 more)	Single nucleotide variant (missense variant)	Vitamin D-dependent rickets type II with alopecia +1 more	GUncertain significance
Select item 953840	NM_000376.3(VDR):c.257A>G (p.Asp86Gly)	VDR (D86G +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 736572	NM_000376.3(VDR):c.219A>G (p.Arg73=)	VDR	Single nucleotide variant (synonymous variant)	Vitamin D-dependent rickets type II with alopecia +1 more	GLikely benign
Select item 1686293	NM_000376.3(VDR):c.217C>T (p.Arg73Ter)	VDR (R123* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 1425408	NM_000376.3(VDR):c.199C>T (p.Arg67Cys)	VDR (R67C +1 more)	Single nucleotide variant (missense variant)	Vitamin D-dependent rickets type II with alopecia +2 more	GUncertain significance
Select item 1640006	NM_000376.3(VDR):c.162G>A (p.Arg54=)	VDR	Single nucleotide variant (synonymous variant)	Vitamin D-dependent rickets type II with alopecia +1 more	GLikely benign
Select item 1395915	NM_000376.3(VDR):c.146+5G>A	VDR	Single nucleotide variant (intron variant)	not provided +1 more	GUncertain significance
Select item 950224	NM_000376.3(VDR):c.86A>G (p.Asp29Gly)	VDR (D29G +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 882357	NM_000376.3(VDR):c.14C>T (p.Ala5Val)	VDR (A5V +1 more)	Single nucleotide variant (missense variant)	Vitamin D-dependent rickets type II with alopecia +1 more	GUncertain significance

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Items: 20