"Ambry Genetics"[submitter] AND "LOC126805655"[gene] - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3284981	NM_005529.7(HSPG2):c.6875G>A (p.Arg2292His)	HSPG2, LOC126805655 (R2293H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3107436	NM_005529.7(HSPG2):c.6842G>C (p.Arg2281Pro)	HSPG2, LOC126805655 (R2281P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1478738	NM_005529.7(HSPG2):c.6841C>T (p.Arg2281Cys)	HSPG2, LOC126805655 (R2281C +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2460289	NM_005529.7(HSPG2):c.6839A>T (p.Lys2280Met)	HSPG2, LOC126805655 (K2281M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3284993	NM_005529.7(HSPG2):c.6817C>T (p.His2273Tyr)	HSPG2, LOC126805655 (H2274Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 295806	NM_005529.7(HSPG2):c.6808G>A (p.Gly2270Arg)	HSPG2, LOC126805655 (G2270R +1 more)	Single nucleotide variant (missense variant)	Lethal Kniest-like syndrome +4 more	GUncertain significance
Select item 1988017	NM_005529.7(HSPG2):c.6799G>A (p.Val2267Met)	HSPG2, LOC126805655 (V2268M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2277081	NM_005529.7(HSPG2):c.6772G>A (p.Glu2258Lys)	HSPG2, LOC126805655 (E2258K +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1702432	NM_005529.7(HSPG2):c.6706G>A (p.Glu2236Lys)	HSPG2, LOC126805655 (E2236K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3284986	NM_005529.7(HSPG2):c.6610C>T (p.Arg2204Trp)	HSPG2, LOC126805655 (R2204W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2469441	NM_005529.7(HSPG2):c.6584G>A (p.Arg2195Gln)	HSPG2, LOC126805655 (R2195Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1983905	NM_005529.7(HSPG2):c.6583C>T (p.Arg2195Trp)	HSPG2, LOC126805655 (R2195W +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 284845	NM_005529.7(HSPG2):c.6541G>A (p.Ala2181Thr)	HSPG2, LOC126805655 (A2181T +1 more)	Single nucleotide variant (missense variant)	Lethal Kniest-like syndrome +3 more	GConflicting classifications of pathogenicity
Select item 295811	NM_005529.7(HSPG2):c.6491C>T (p.Ala2164Val)	HSPG2, LOC126805655 (A2164V +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 2184863	NM_005529.7(HSPG2):c.6487G>A (p.Val2163Met)	HSPG2, LOC126805655 (V2163M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3284980	NM_005529.7(HSPG2):c.6473C>T (p.Pro2158Leu)	HSPG2, LOC126805655 (P2158L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2560115	NM_005529.7(HSPG2):c.6463C>T (p.Arg2155Cys)	HSPG2, LOC126805655 (R2155C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance