"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "RBM48"[ - ClinVar

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Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 256215	NM_000466.3(PEX1):c.-137T>C	PEX1, RBM48 +1 more	Single nucleotide variant	not provided +3 more	GBenign/Likely benign
Select item 776237	NM_032120.4(RBM48):c.8C>T (p.Ser3Leu)	LOC129998797, PEX1 +1 more (S3L)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign/Likely benign
Select item 1211594	NM_032120.4(RBM48):c.27G>A (p.Gly9=)	LOC129998797, PEX1 +1 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign/Likely benign
Select item 1435189	NM_032120.4(RBM48):c.70C>T (p.Arg24Trp)	LOC129998797, RBM48 (R24W)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1896032	NM_032120.4(RBM48):c.112-12C>T	RBM48	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2117514	NM_032120.4(RBM48):c.138G>A (p.Gln46=)	RBM48	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2055219	NM_032120.4(RBM48):c.273T>C (p.Leu91=)	RBM48	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1619252	NM_032120.4(RBM48):c.302+18A>C	RBM48	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1979802	NM_032120.4(RBM48):c.340G>A (p.Gly114Ser)	RBM48 (G114S)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 2962061	NM_032120.4(RBM48):c.359G>C (p.Cys120Ser)	RBM48 (C120S)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 2778566	NM_032120.4(RBM48):c.370G>C (p.Glu124Gln)	RBM48 (E124Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1598936	NM_032120.4(RBM48):c.420A>C (p.Ala140=)	RBM48	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2057097	NM_032120.4(RBM48):c.538T>C (p.Cys180Arg)	RBM48 (C180R +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1555096	NM_032120.4(RBM48):c.588G>A (p.Pro196=)	RBM48	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2400232	NM_032120.4(RBM48):c.680A>T (p.Asp227Val)	RBM48 (D227V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2417289	NM_032120.4(RBM48):c.710A>G (p.His237Arg)	RBM48 (H237R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1391385	NM_032120.4(RBM48):c.752C>T (p.Ser251Phe)	RBM48 (S251F +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1442249	NM_032120.4(RBM48):c.764C>T (p.Ser255Leu)	RBM48 (S255L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2979884	NM_032120.4(RBM48):c.850C>T (p.Arg284Cys)	RBM48 (R109C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2050924	NM_032120.4(RBM48):c.948C>G (p.Ile316Met)	RBM48 (I141M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2881480	NM_032120.4(RBM48):c.977T>G (p.Leu326Trp)	RBM48 (L326W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 776238	NM_032120.4(RBM48):c.1017+3A>G	RBM48	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1987024	NM_032120.4(RBM48):c.1018-7dup	RBM48	Duplication (intron variant)	not provided	GBenign
Select item 1918821	NM_032120.4(RBM48):c.1018-19del	RBM48	Deletion (intron variant)	not provided	GLikely benign
Select item 1637225	NM_032120.4(RBM48):c.1018-7del	RBM48	Deletion (intron variant)	not provided	GBenign
Select item 2800975	NM_032120.4(RBM48):c.1031_1032del (p.Val344fs)	RBM48 (V169fs +1 more)	Microsatellite (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1240967	NM_032120.4(RBM48):c.1047G>A (p.Glu349=)	RBM48	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1665531	NM_032120.4(RBM48):c.1050C>T (p.Asp350=)	RBM48	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2968387	NM_032120.4(RBM48):c.1067A>G (p.His356Arg)	RBM48 (H356R +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1667650	NM_032120.4(RBM48):c.1074T>G (p.Ser358Arg)	RBM48 (S183R +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign

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Items: 30