"Ambry Genetics"[submitter] AND "SCP2D1"[gene] - ClinVar - NCBI

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

Search results

Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2274627	NM_178483.3(SCP2D1):c.63G>T (p.Gln21His)	SCP2D1, SCP2D1-AS1 (Q21H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308133	NM_178483.3(SCP2D1):c.82G>A (p.Val28Ile)	SCP2D1, SCP2D1-AS1 (V28I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158641	NM_178483.3(SCP2D1):c.83T>A (p.Val28Asp)	SCP2D1, SCP2D1-AS1 (V28D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158642	NM_178483.3(SCP2D1):c.94G>A (p.Ala32Thr)	SCP2D1, SCP2D1-AS1 (A32T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307581	NM_178483.3(SCP2D1):c.129G>T (p.Glu43Asp)	SCP2D1, SCP2D1-AS1 (E43D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284963	NM_178483.3(SCP2D1):c.285G>A (p.Met95Ile)	SCP2D1, SCP2D1-AS1 (M95I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375022	NM_178483.3(SCP2D1):c.290C>T (p.Pro97Leu)	SCP2D1, SCP2D1-AS1 (P97L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3158636	NM_178483.3(SCP2D1):c.332C>T (p.Pro111Leu)	SCP2D1, SCP2D1-AS1 (P111L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158637	NM_178483.3(SCP2D1):c.347T>C (p.Met116Thr)	SCP2D1, SCP2D1-AS1 (M116T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158638	NM_178483.3(SCP2D1):c.364A>G (p.Lys122Glu)	SCP2D1, SCP2D1-AS1 (K122E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158639	NM_178483.3(SCP2D1):c.451A>G (p.Lys151Glu)	SCP2D1, SCP2D1-AS1 (K151E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance