"Ambry Genetics"[submitter] AND "CC2D2B"[gene] - ClinVar - NCBI

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

Search results

Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2381004	NM_001349008.3(CC2D2B):c.411G>C (p.Glu137Asp)	C10orf131, CC2D2B +1 more (E137D +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3138173	NM_001349008.3(CC2D2B):c.2972G>T (p.Gly991Val)	CC2D2B, ENTPD1-AS1 (G16V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300578	NM_001349008.3(CC2D2B):c.3040T>C (p.Ser1014Pro)	CC2D2B, ENTPD1-AS1 (S39P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514986	NM_001349008.3(CC2D2B):c.3302G>A (p.Arg1101Gln)	CC2D2B, ENTPD1-AS1 (R1101Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287807	NM_001349008.3(CC2D2B):c.3433A>T (p.Ile1145Phe)	CC2D2B, ENTPD1-AS1 (I109F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333435	NM_001349008.3(CC2D2B):c.3491G>C (p.Gly1164Ala)	CC2D2B, ENTPD1-AS1 (G128A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138171	NM_001349008.3(CC2D2B):c.3523A>G (p.Ile1175Val)	CC2D2B, ENTPD1-AS1 (I139V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138172	NM_001349008.3(CC2D2B):c.3536T>C (p.Ile1179Thr)	CC2D2B, ENTPD1-AS1 (I1179T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534895	NM_001349008.3(CC2D2B):c.3602T>C (p.Leu1201Pro)	CC2D2B, ENTPD1-AS1 (L165P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235105	NM_001349008.3(CC2D2B):c.3617C>T (p.Thr1206Met)	CC2D2B, ENTPD1-AS1 (T170M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606403	NM_001349008.3(CC2D2B):c.3646G>A (p.Val1216Ile)	CC2D2B, ENTPD1-AS1 (V1216I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138174	NM_001349008.3(CC2D2B):c.3647T>C (p.Val1216Ala)	CC2D2B, ENTPD1-AS1 (V1216A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536002	NM_001349008.3(CC2D2B):c.3686C>G (p.Pro1229Arg)	CC2D2B, ENTPD1-AS1 (P1229R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138175	NM_001349008.3(CC2D2B):c.3697C>A (p.Gln1233Lys)	CC2D2B, ENTPD1-AS1 (Q197K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601402	NM_001349008.3(CC2D2B):c.3779T>G (p.Ile1260Ser)	CC2D2B, ENTPD1-AS1 (I224S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138176	NM_001349008.3(CC2D2B):c.3902T>C (p.Ile1301Thr)	CC2D2B, ENTPD1-AS1 (I265T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2616348	NM_001349008.3(CC2D2B):c.3925A>T (p.Met1309Leu)	CC2D2B, ENTPD1-AS1 (M273L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2511773	NM_001349008.3(CC2D2B):c.4265A>G (p.Asn1422Ser)	CC2D2B, ENTPD1-AS1 (N1422S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511992	NM_001349008.3(CC2D2B):c.4286A>G (p.Tyr1429Cys)	CC2D2B, ENTPD1-AS1 (Y1429C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance