Related gene-specific medical variations for Gene (Select 1508) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2050464	NM_001908.5(CTSB):c.76_77del (p.Leu26fs)	CTSB, LOC121268921 (L26fs)	Deletion (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1922195	NM_001908.5(CTSB):c.77T>G (p.Leu26Arg)	CTSB, LOC121268921 (L26R)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1666336	NM_001908.5(CTSB):c.126+8G>T	CTSB, LOC121268921	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1666335	NM_001908.5(CTSB):c.126+18G>T	CTSB, LOC121268921	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1661022	NM_001908.5(CTSB):c.59G>C (p.Arg20Thr)	LOC121268921, CTSB (R20T)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1657391	NM_001908.5(CTSB):c.18C>G (p.Ala6=)	CTSB, LOC121268921	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1654518	NM_001908.5(CTSB):c.88C>G (p.Leu30Val)	CTSB, LOC121268921 (L30V)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1653422	NM_001908.5(CTSB):c.75_76delinsTG (p.Leu26Val)	CTSB, LOC121268921 (L26V)	Indel (missense variant +1 more)	not provided	GLikely benign
Select item 1636592	NM_001908.5(CTSB):c.77T>C (p.Leu26Pro)	CTSB, LOC121268921 (L26P)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1633874	NM_001908.5(CTSB):c.45C>T (p.Ala15=)	CTSB, LOC121268921	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1496021	NM_001908.5(CTSB):c.73C>T (p.Pro25Ser)	LOC121268921, CTSB (P25S)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1494204	NM_001908.5(CTSB):c.126+5G>A	CTSB, LOC121268921	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1484085	NM_001908.5(CTSB):c.125A>T (p.Gln42Leu)	LOC121268921, CTSB (Q42L)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1414556	NM_001908.5(CTSB):c.53G>A (p.Arg18Gln)	CTSB, LOC121268921 (R18Q)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1372354	NM_001908.5(CTSB):c.38T>C (p.Val13Ala)	CTSB, LOC121268921 (V13A)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1365130	NM_001908.5(CTSB):c.76C>A (p.Leu26Met)	CTSB, LOC121268921 (L26M)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1340512	GRCh37/hg19 8p23.1(chr8:11701700-11824956)x1	CTSB	Copy number loss	not provided	GLikely benign
Select item 1168281	NM_001908.5(CTSB):c.76C>G (p.Leu26Val)	CTSB, LOC121268921 (L26V)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 688636	GRCh37/hg19 8p23.1(chr8:11714221-11731254)x1	CTSB	Copy number loss	not provided	GUncertain significance