C1864861[trait identifier] AND "Counsyl"[submitter] - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 554312	NM_017654.4(SAMD9):c.4558G>T (p.Glu1520Ter)	SAMD9 (E1520*)	Single nucleotide variant (nonsense)	not specified +2 more	GUncertain significance
Select item 555093	NM_017654.4(SAMD9):c.4331AAC[1] (p.Gln1445del)	SAMD9 (Q1445del)	Microsatellite (inframe_deletion)	Normophosphatemic familial tumoral calcinosis +1 more	GUncertain significance
Select item 554715	NM_017654.4(SAMD9):c.3651dup (p.Asp1218Ter)	SAMD9 (D1218*)	Duplication (nonsense)	not specified +4 more	GBenign/Likely benign
Select item 557138	NM_017654.4(SAMD9):c.3505C>T (p.Gln1169Ter)	SAMD9 (Q1169*)	Single nucleotide variant (nonsense)	Normophosphatemic familial tumoral calcinosis	GUncertain significance
Select item 552976	NM_017654.4(SAMD9):c.3381C>A (p.Tyr1127Ter)	SAMD9 (Y1127*)	Single nucleotide variant (nonsense)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 558150	NM_017654.4(SAMD9):c.2509dup (p.Arg837fs)	SAMD9 (R837fs)	Duplication (frameshift variant)	Normophosphatemic familial tumoral calcinosis	GUncertain significance
Select item 554815	NM_017654.4(SAMD9):c.1800_1801del (p.Glu600fs)	SAMD9 (E600fs)	Deletion (frameshift variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 556683	NM_017654.4(SAMD9):c.132del (p.Val45fs)	SAMD9 (V45fs)	Deletion (frameshift variant)	Normophosphatemic familial tumoral calcinosis	GLikely pathogenic
Select item 553658	NM_017654.4(SAMD9):c.2T>C (p.Met1Thr)	SAMD9 (M1T)	Single nucleotide variant (missense variant +1 more)	Normophosphatemic familial tumoral calcinosis	GLikely pathogenic