Related gene-specific medical variations for Gene (Select 219285) - ClinVar

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Links from Gene

Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3362518	NM_152703.5(SAMD9L):c.1120del (p.Leu373_Val374insTer)	SAMD9L	Deletion (nonsense)	Ataxia-pancytopenia syndrome	GUncertain significance
Select item 3361990	NM_152703.5(SAMD9L):c.3022A>G (p.Lys1008Glu)	SAMD9L (K1008E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3361988	NM_152703.5(SAMD9L):c.559A>G (p.Thr187Ala)	SAMD9L (T187A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3361655	NM_152703.5(SAMD9L):c.1274A>T (p.His425Leu)	SAMD9L (H425L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3361061	NM_152703.5(SAMD9L):c.1735T>C (p.Cys579Arg)	SAMD9L (C579R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3361054	NM_152703.5(SAMD9L):c.2345T>A (p.Ile782Asn)	SAMD9L (I782N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360210	NM_152703.5(SAMD9L):c.1631dup (p.Leu544fs)	SAMD9L (L544fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 3359716	NM_152703.5(SAMD9L):c.2213A>C (p.Asn738Thr)	SAMD9L (N738T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359428	NM_152703.5(SAMD9L):c.733C>A (p.Pro245Thr)	SAMD9L (P245T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359426	NM_152703.5(SAMD9L):c.186G>T (p.Trp62Cys)	SAMD9L (W62C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3067822	NM_152703.5(SAMD9L):c.1789A>G (p.Arg597Gly)	SAMD9L (R597G)	Single nucleotide variant (missense variant)	Ataxia-pancytopenia syndrome	GUncertain significance
Select item 3065891	NM_152703.5(SAMD9L):c.3457C>A (p.Leu1153Ile)	SAMD9L (L1153I)	Single nucleotide variant (missense variant)	Ataxia-pancytopenia syndrome	GUncertain significance
Select item 3065345	NM_152703.5(SAMD9L):c.3467C>A (p.Ala1156Glu)	SAMD9L (A1156E)	Single nucleotide variant (missense variant)	Ataxia-pancytopenia syndrome	GUncertain significance
Select item 3064808	NM_152703.5(SAMD9L):c.901G>C (p.Asp301His)	SAMD9L (D301H)	Single nucleotide variant (missense variant)	Ataxia-pancytopenia syndrome	GUncertain significance
Select item 2576086	NM_152703.5(SAMD9L):c.1428G>C (p.Lys476Asn)	SAMD9L (K476N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2435653	NM_152703.5(SAMD9L):c.2690A>T (p.Asp897Val)	SAMD9L (D897V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2435652	NM_152703.5(SAMD9L):c.3251T>C (p.Ile1084Thr)	SAMD9L (I1084T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2435650	NM_152703.5(SAMD9L):c.1925C>A (p.Ser642Ter)	SAMD9L (S642*)	Single nucleotide variant (nonsense)	not provided	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 1319844	NM_152703.5(SAMD9L):c.3924T>A (p.Cys1308Ter)	SAMD9L (C1308*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1319843	NM_152703.5(SAMD9L):c.4534G>A (p.Val1512Met)	SAMD9L (V1512M)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 1213807	NM_152703.5(SAMD9L):c.-779+181T>C	SAMD9L	Single nucleotide variant (intron variant)	Ataxia-pancytopenia syndrome	GUncertain significance
Select item 930856	NM_152703.5(SAMD9L):c.3156C>G (p.Asp1052Glu)	SAMD9L (D1052E)	Single nucleotide variant (missense variant)	Ataxia-pancytopenia syndrome	GUncertain significance
Select item 813551	NM_152703.5(SAMD9L):c.3033T>G (p.Ile1011Met)	SAMD9L (I1011M)	Single nucleotide variant (missense variant)	Microcephaly	GUncertain significance

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Links from Gene

Items: 24