C4551479[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[su - ClinVar

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Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 596005	NM_005529.7(HSPG2):c.12195G>A (p.Pro4065=)	HSPG2	Single nucleotide variant (synonymous variant)	Lethal Kniest-like syndrome +3 more	GConflicting classifications of pathogenicity
Select item 1051273	NM_005529.7(HSPG2):c.11751G>A (p.Ser3917=)	HSPG2	Single nucleotide variant (synonymous variant)	Lethal Kniest-like syndrome +2 more	GUncertain significance
Select item 198669	NM_005529.7(HSPG2):c.10498G>A (p.Val3500Met)	HSPG2 (V3500M +1 more)	Single nucleotide variant (missense variant)	Lethal Kniest-like syndrome +5 more	GBenign/Likely benign
Select item 295759	NM_005529.7(HSPG2):c.9476G>A (p.Arg3159Gln)	HSPG2 (R3159Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GUncertain significance
Select item 295780	NM_005529.7(HSPG2):c.8044C>T (p.Arg2682Trp)	HSPG2 (R2682W +1 more)	Single nucleotide variant (missense variant)	not provided +5 more	GBenign/Likely benign
Select item 1350314	NM_005529.7(HSPG2):c.7198G>A (p.Ala2400Thr)	HSPG2 (A2401T +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 265454	NM_005529.7(HSPG2):c.7006+1G>A	HSPG2	Single nucleotide variant (splice donor variant)	Schwartz-Jampel syndrome type 1 +2 more	GPathogenic/Likely pathogenic
Select item 1474534	NM_005529.7(HSPG2):c.6871-10G>A	HSPG2, LOC126805655	Single nucleotide variant (intron variant)	not provided +2 more	GUncertain significance
Select item 1400608	NM_005529.7(HSPG2):c.6161A>G (p.Lys2054Arg)	HSPG2 (K2054R +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1018185	NM_005529.7(HSPG2):c.5998-5G>A	HSPG2	Single nucleotide variant (intron variant)	not provided +2 more	GUncertain significance
Select item 197547	NM_005529.7(HSPG2):c.5755C>T (p.Arg1919Cys)	HSPG2 (R1919C +1 more)	Single nucleotide variant (missense variant)	not specified +5 more	GBenign/Likely benign
Select item 295827	NM_005529.7(HSPG2):c.5742C>T (p.His1914=)	HSPG2	Single nucleotide variant (synonymous variant)	Lethal Kniest-like syndrome +4 more	GBenign/Likely benign
Select item 1041950	NM_005529.7(HSPG2):c.4972G>A (p.Val1658Met)	HSPG2 (V1658M +1 more)	Single nucleotide variant (missense variant)	Lethal Kniest-like syndrome +3 more	GUncertain significance
Select item 295836	NM_005529.7(HSPG2):c.4903G>A (p.Gly1635Arg)	HSPG2 (G1635R +1 more)	Single nucleotide variant (missense variant)	Lethal Kniest-like syndrome +3 more	GUncertain significance
Select item 447552	NM_005529.7(HSPG2):c.4391G>A (p.Arg1464Gln)	HSPG2 (R1464Q +1 more)	Single nucleotide variant (missense variant)	Lethal Kniest-like syndrome +4 more	GUncertain significance
Select item 295855	NM_005529.7(HSPG2):c.3708G>A (p.Ala1236=)	HSPG2	Single nucleotide variant (synonymous variant)	Lethal Kniest-like syndrome +4 more	GBenign/Likely benign
Select item 1330931	NM_005529.7(HSPG2):c.3657-16C>G	HSPG2	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 235713	NM_005529.7(HSPG2):c.2869A>C (p.Asn957His)	HSPG2 (N957H +1 more)	Single nucleotide variant (missense variant)	Connective tissue disorder +5 more	GBenign
Select item 842464	NM_005529.7(HSPG2):c.2747G>A (p.Arg916Gln)	HSPG2 (R917Q +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 295885	NM_005529.7(HSPG2):c.2023C>T (p.Arg675Trp)	HSPG2 (R675W +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 1303184	NM_005529.7(HSPG2):c.1903G>A (p.Val635Met)	HSPG2 (V635M +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 995380	NM_005529.7(HSPG2):c.1844G>A (p.Arg615His)	HSPG2 (R615H +1 more)	Single nucleotide variant (missense variant)	Lethal Kniest-like syndrome +2 more	GUncertain significance
Select item 585984	NM_005529.7(HSPG2):c.1585G>A (p.Val529Met)	HSPG2 (V529M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 772678	NM_005529.7(HSPG2):c.1167C>T (p.Asp389=)	HSPG2	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign/Likely benign
Select item 295908	NM_005529.7(HSPG2):c.758C>G (p.Ser253Cys)	HSPG2 (S253C)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance

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Items: 25