ClinVar for MedGen (Select 381529) - ClinVar

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Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2577899	NM_152703.5(SAMD9L):c.2734C>G (p.Gln912Glu)	SAMD9L (Q912E)	Single nucleotide variant (missense variant)	Ataxia-pancytopenia syndrome +1 more	GUncertain significance
Select item 2577890	NM_152703.5(SAMD9L):c.2483G>A (p.Arg828Gln)	SAMD9L (R828Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2417752	NM_152703.5(SAMD9L):c.385A>C (p.Ile129Leu)	SAMD9L (I129L)	Single nucleotide variant (missense variant)	Monosomy 7 myelodysplasia and leukemia syndrome 1 +1 more	GUncertain significance
Select item 1959197	NM_152703.5(SAMD9L):c.1096T>C (p.Phe366Leu)	SAMD9L (F366L)	Single nucleotide variant (missense variant)	Monosomy 7 myelodysplasia and leukemia syndrome 1 +3 more	GUncertain significance
Select item 1679738	NM_152703.5(SAMD9L):c.2052A>C (p.Glu684Asp)	SAMD9L (E684D)	Single nucleotide variant (missense variant)	Monosomy 7 myelodysplasia and leukemia syndrome 1 +1 more	GUncertain significance
Select item 1631825	NM_152703.5(SAMD9L):c.2316T>G (p.Thr772=)	SAMD9L	Single nucleotide variant (synonymous variant)	Monosomy 7 myelodysplasia and leukemia syndrome 1 +3 more	GBenign/Likely benign
Select item 1519066	NM_152703.5(SAMD9L):c.4298T>C (p.Leu1433Pro)	SAMD9L (L1433P)	Single nucleotide variant (missense variant)	SAMD9L-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 1437441	NM_152703.5(SAMD9L):c.4259G>A (p.Ser1420Asn)	SAMD9L (S1420N)	Single nucleotide variant (missense variant)	Monosomy 7 myelodysplasia and leukemia syndrome 1 +1 more	GUncertain significance
Select item 1407336	NM_152703.5(SAMD9L):c.1364T>C (p.Val455Ala)	SAMD9L (V455A)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1333474	NM_152703.5(SAMD9L):c.303del (p.Asn103fs)	SAMD9L (N103fs)	Deletion (frameshift variant)	Monosomy 7 myelodysplasia and leukemia syndrome 1	GLikely pathogenic
Select item 1320284	NM_152703.5(SAMD9L):c.4654T>A (p.Tyr1552Asn)	SAMD9L (Y1552N)	Single nucleotide variant (missense variant)	Monosomy 7 myelodysplasia and leukemia syndrome 1	GLikely pathogenic
Select item 1049582	NM_152703.5(SAMD9L):c.2069G>A (p.Gly690Asp)	SAMD9L (G690D)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 1017243	NM_152703.5(SAMD9L):c.4082T>C (p.Val1361Ala)	SAMD9L (V1361A)	Single nucleotide variant (missense variant)	Monosomy 7 myelodysplasia and leukemia syndrome 1 +4 more	GUncertain significance
Select item 988631	NM_152703.5(SAMD9L):c.3842G>A (p.Arg1281Lys)	SAMD9L (R1281K)	Single nucleotide variant (missense variant)	Monosomy 7 myelodysplasia and leukemia syndrome 1	GPathogenic
Select item 988630	NM_152703.5(SAMD9L):c.4535T>C (p.Val1512Ala)	SAMD9L	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 813694	NM_152703.5(SAMD9L):c.2114A>G (p.Tyr705Cys)	SAMD9L (Y705C)	Single nucleotide variant (missense variant)	not provided +3 more	GLikely benign
Select item 778936	NM_152703.5(SAMD9L):c.3102T>C (p.Asp1034=)	SAMD9L	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign/Likely benign
Select item 774190	NM_152703.5(SAMD9L):c.1216C>T (p.Arg406Ter)	SAMD9L (R406*)	Single nucleotide variant (nonsense)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 722433	NM_152703.5(SAMD9L):c.3964T>C (p.Leu1322=)	SAMD9L	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign/Likely benign
Select item 707979	NM_152703.5(SAMD9L):c.1015C>A (p.Leu339Ile)	SAMD9L (L339I)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 446530	NM_152703.5(SAMD9L):c.2956C>T (p.Arg986Cys)	SAMD9L (R986C)	Single nucleotide variant (missense variant)	Monosomy 7 myelodysplasia and leukemia syndrome 1 +2 more	GConflicting classifications of pathogenicity
Select item 242372	NM_152703.5(SAMD9L):c.2640C>A (p.His880Gln)	SAMD9L (H880Q)	Single nucleotide variant (missense variant)	not provided	GPathogenic

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Items: 22