Related gene-specific medical variations for Gene (Select 158506) - ClinVar

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Links from Gene

Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3138012	NM_152577.4(CBLL2):c.875T>G (p.Val292Gly)	CBLL2, PTCHD1-AS (V292G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138011	NM_152577.4(CBLL2):c.809C>T (p.Ser270Leu)	CBLL2, PTCHD1-AS (S270L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138010	NM_152577.4(CBLL2):c.638C>A (p.Pro213Gln)	CBLL2, PTCHD1-AS (P213Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138009	NM_152577.4(CBLL2):c.587T>C (p.Met196Thr)	CBLL2, PTCHD1-AS (M196T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138008	NM_152577.4(CBLL2):c.577G>C (p.Val193Leu)	CBLL2, PTCHD1-AS (V193L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138007	NM_152577.4(CBLL2):c.349G>C (p.Val117Leu)	CBLL2, PTCHD1-AS (V117L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138006	NM_152577.4(CBLL2):c.322C>G (p.Arg108Gly)	CBLL2, PTCHD1-AS (R108G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138005	NM_152577.4(CBLL2):c.284G>A (p.Arg95His)	CBLL2, PTCHD1-AS (R95H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138004	NM_152577.4(CBLL2):c.1271G>C (p.Arg424Pro)	CBLL2, PTCHD1-AS (R424P)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3138003	NM_152577.4(CBLL2):c.1202C>T (p.Pro401Leu)	CBLL2, PTCHD1-AS (P401L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2660160	NM_152577.4(CBLL2):c.929G>A (p.Arg310His)	CBLL2, PTCHD1-AS (R310H)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2610847	NM_152577.4(CBLL2):c.953C>T (p.Thr318Met)	CBLL2, PTCHD1-AS (T318M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2601344	NM_152577.4(CBLL2):c.728T>C (p.Ile243Thr)	CBLL2, PTCHD1-AS (I243T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597564	NM_152577.4(CBLL2):c.281C>T (p.Pro94Leu)	CBLL2, PTCHD1-AS (P94L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2568698	NM_152577.4(CBLL2):c.934C>G (p.Gln312Glu)	CBLL2, PTCHD1-AS (Q312E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512312	NM_152577.4(CBLL2):c.523G>T (p.Asp175Tyr)	CBLL2, PTCHD1-AS (D175Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464576	NM_152577.4(CBLL2):c.828A>G (p.Ile276Met)	CBLL2, PTCHD1-AS (I276M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 788049	NM_152577.4(CBLL2):c.645A>C (p.Leu215=)	CBLL2, PTCHD1-AS	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 788048	NM_152577.4(CBLL2):c.539T>A (p.Ile180Asn)	CBLL2, PTCHD1-AS (I180N)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 780686	NM_152577.4(CBLL2):c.1167G>A (p.Arg389=)	CBLL2, PTCHD1-AS	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 715924	NM_152577.4(CBLL2):c.98T>A (p.Ile33Asn)	CBLL2, PTCHD1-AS (I33N)	Single nucleotide variant (missense variant)	not provided	GBenign

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Links from Gene

Items: 21