Related gene-specific medical variations for Gene (Select 5971) - ClinVar

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Links from Gene

Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3313563	NM_006509.4(RELB):c.28C>A (p.Pro10Thr)	LOC130064661, RELB (P10T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2780757	NM_006509.4(RELB):c.48G>C (p.Arg16=)	LOC130064661, RELB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2780441	NM_006509.4(RELB):c.56C>G (p.Pro19Arg)	LOC130064661, RELB (P19R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2767651	NM_006509.4(RELB):c.83C>T (p.Ala28Val)	LOC130064661, RELB (A28V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2491882	NM_006509.4(RELB):c.47G>C (p.Arg16Pro)	LOC130064661, RELB (R16P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2047010	NM_006509.4(RELB):c.46C>T (p.Arg16Trp)	LOC130064661, RELB (R16W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2004755	NM_006509.4(RELB):c.87G>A (p.Ala29=)	LOC130064661, RELB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1923067	NM_006509.4(RELB):c.105A>C (p.Leu35Phe)	LOC130064661, RELB (L35F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1718226	NM_006509.4(RELB):c.14G>A (p.Gly5Glu)	LOC130064661, RELB (G5E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1643009	NM_006509.4(RELB):c.57G>C (p.Pro19=)	LOC130064661, RELB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1463700	NM_006509.4(RELB):c.1A>G (p.Met1Val)	LOC130064661, RELB (M1V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1435965	NM_006509.4(RELB):c.55C>G (p.Pro19Ala)	LOC130064661, RELB (P19A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1413689	NM_006509.4(RELB):c.106G>A (p.Gly36Arg)	RELB, LOC130064661 (G36R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1407890	NM_006509.4(RELB):c.77C>T (p.Pro26Leu)	LOC130064661, RELB (P26L)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1401691	NM_006509.4(RELB):c.80C>G (p.Pro27Arg)	LOC130064661, RELB (P27R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1377583	NM_006509.4(RELB):c.26G>A (p.Gly9Glu)	LOC130064661, RELB (G9E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1356718	NM_006509.4(RELB):c.89C>G (p.Pro30Arg)	RELB, LOC130064661 (P30R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1347555	NM_006509.4(RELB):c.40A>C (p.Thr14Pro)	LOC130064661, RELB (T14P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1157762	NM_006509.4(RELB):c.21C>T (p.Ala7=)	LOC130064661, RELB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1005629	NM_006509.4(RELB):c.38C>T (p.Pro13Leu)	LOC130064661, RELB (P13L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 973569	NM_006509.4(RELB):c.919C>T (p.Arg307Ter)	RELB (R307*)	Single nucleotide variant (nonsense)	Immunodeficiency 53	GLikely pathogenic

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Links from Gene

Items: 21