"Ambry Genetics"[submitter] AND "PDCD10"[gene] - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1752797	NM_007217.4(PDCD10):c.630T>C (p.Thr210=)	PDCD10	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 2539866	NM_007217.4(PDCD10):c.571T>A (p.Phe191Ile)	PDCD10 (F191I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1744373	NM_007217.4(PDCD10):c.495A>G (p.Lys165=)	PDCD10	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 2465685	NM_007217.4(PDCD10):c.414A>G (p.Ile138Met)	PDCD10 (I138M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2260129	NM_007217.4(PDCD10):c.398A>C (p.Asp133Ala)	PDCD10 (D133A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1735260	NM_007217.4(PDCD10):c.381T>C (p.Phe127=)	PDCD10	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1727833	NM_007217.4(PDCD10):c.311A>G (p.Asn104Ser)	PDCD10 (N104S)	Single nucleotide variant (missense variant)	Cerebral cavernous malformation 3 +1 more	GUncertain significance
Select item 985216	NM_007217.4(PDCD10):c.299del (p.Phe100fs)	PDCD10 (F100fs)	Deletion (frameshift variant)	Inborn genetic diseases	GPathogenic
Select item 1789077	NM_007217.4(PDCD10):c.228C>T (p.Phe76=)	PDCD10	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 344109	NM_007217.4(PDCD10):c.214G>C (p.Val72Leu)	PDCD10 (V72L)	Single nucleotide variant (missense variant)	Cerebral cavernous malformation 3 +1 more	GBenign/Likely benign
Select item 1783379	NM_007217.4(PDCD10):c.195A>G (p.Lys65=)	PDCD10	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 2586963	NM_007217.4(PDCD10):c.193A>C (p.Lys65Gln)	PDCD10 (K65Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2748819	NM_007217.4(PDCD10):c.131T>G (p.Leu44Arg)	PDCD10 (L44R)	Single nucleotide variant (missense variant)	Cerebral cavernous malformation 3 +1 more	GUncertain significance
Select item 1768874	NM_007217.4(PDCD10):c.99A>G (p.Leu33=)	PDCD10	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 2295632	NM_007217.4(PDCD10):c.68A>G (p.Tyr23Cys)	PDCD10 (Y23C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance