C0036391[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[su - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 18

	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)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 295725	NM_005529.7(HSPG2):c.11072C>T (p.Thr3691Ile)	HSPG2 (T3691I +1 more)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
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 +6 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)	Lethal Kniest-like syndrome +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)	Schwartz-Jampel syndrome +5 more	GBenign/Likely benign
Select item 290055	NM_005529.7(HSPG2):c.7235G>A (p.Ser2412Asn)	HSPG2 (S2412N +1 more)	Single nucleotide variant (missense variant)	Lethal Kniest-like syndrome +2 more	GConflicting classifications of pathogenicity
Select item 197547	NM_005529.7(HSPG2):c.5755C>T (p.Arg1919Cys)	HSPG2 (R1919C +1 more)	Single nucleotide variant (missense variant)	Lethal Kniest-like syndrome +6 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 284377	NM_005529.7(HSPG2):c.5648C>T (p.Ala1883Val)	HSPG2 (A1883V +1 more)	Single nucleotide variant (missense variant)	Lethal Kniest-like syndrome +4 more	GConflicting classifications of pathogenicity
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 287524	NM_005529.7(HSPG2):c.4601C>G (p.Pro1534Arg)	HSPG2 (P1534R +1 more)	Single nucleotide variant (missense variant)	Lethal Kniest-like syndrome +5 more	GConflicting classifications of pathogenicity
Select item 447552	NM_005529.7(HSPG2):c.4391G>A (p.Arg1464Gln)	HSPG2 (R1464Q +1 more)	Single nucleotide variant (missense variant)	Schwartz-Jampel syndrome type 1 +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 +5 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)	not specified +5 more	GBenign
Select item 295885	NM_005529.7(HSPG2):c.2023C>T (p.Arg675Trp)	HSPG2 (R675W +1 more)	Single nucleotide variant (missense variant)	Lethal Kniest-like syndrome +4 more	GUncertain significance
Select item 772678	NM_005529.7(HSPG2):c.1167C>T (p.Asp389=)	HSPG2	Single nucleotide variant (synonymous variant)	Schwartz-Jampel syndrome type 1 +5 more	GBenign/Likely benign
Select item 295904	NM_005529.7(HSPG2):c.878G>A (p.Arg293His)	HSPG2 (R293H)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 295908	NM_005529.7(HSPG2):c.758C>G (p.Ser253Cys)	HSPG2 (S253C)	Single nucleotide variant (missense variant)	Lethal Kniest-like syndrome +4 more	GUncertain significance