Related gene-specific medical variations for Gene (Select 640) - ClinVar

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Items: 48

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3045986	NC_000008.11:g.11474237T>A	BLK, FAM167A	Single nucleotide variant	BLK-related condition	GLikely benign
Select item 2956616	NM_001715.3(BLK):c.408G>A (p.Arg136=)	BLK, LOC126860303	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2712322	NM_001715.3(BLK):c.369-9G>A	BLK, LOC126860303	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2658404	NM_001715.3(BLK):c.465C>A (p.Thr155=)	BLK, LOC126860303	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2579843	NM_001715.3(BLK):c.471A>G (p.Lys157=)	BLK, LOC126860303	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2579149	NM_001715.3(BLK):c.952G>A (p.Gly318Arg)	BLK (G247R +1 more)	Single nucleotide variant (missense variant)	Maturity-onset diabetes of the young type 11	GUncertain significance
Select item 2439526	NM_001715.3(BLK):c.1370C>T (p.Pro457Leu)	BLK (P386L +1 more)	Single nucleotide variant (missense variant)	Maturity-onset diabetes of the young type 11	GUncertain significance
Select item 2428755	NM_001715.3(BLK):c.922A>G (p.Ile308Val)	BLK (I237V +1 more)	Single nucleotide variant (missense variant)	Maturity-onset diabetes of the young type 11	GLikely benign
Select item 2428692	NM_001715.3(BLK):c.1393T>C (p.Tyr465His)	BLK (Y394H +1 more)	Single nucleotide variant (missense variant)	Maturity-onset diabetes of the young type 11	GUncertain significance
Select item 2082852	NM_001715.3(BLK):c.396G>A (p.Lys132=)	BLK, LOC126860303	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1986665	NM_001715.3(BLK):c.400G>A (p.Ala134Thr)	BLK, LOC126860303 (A134T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1879705	NM_001715.3(BLK):c.447T>C (p.Leu149=)	BLK, LOC126860303	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1720446	NM_001715.3(BLK):c.439T>A (p.Ser147Thr)	BLK, LOC126860303 (S147T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1635665	NM_001715.3(BLK):c.472+20C>T	BLK, LOC126860303	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1294560	NM_001715.3(BLK):c.1312+279G>A	BLK, LOC129999898	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1292676	NM_001715.3(BLK):c.175+157C>G	BLK, LOC129999894	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1276421	NM_001715.3(BLK):c.472+340G>C	BLK, LOC126860303	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1247545	NM_001715.3(BLK):c.472+314T>G	BLK, LOC126860303	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1234563	NM_001715.3(BLK):c.472+271G>A	BLK, LOC126860303	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1218473	NM_001715.3(BLK):c.175+154G>C	BLK, LOC129999894	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1215879	NM_001715.3(BLK):c.175+31C>G	BLK, LOC129999894	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1215196	NM_001715.3(BLK):c.472+163T>C	BLK, LOC126860303	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1213269	NM_001715.3(BLK):c.369-175G>A	BLK, LOC126860303	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1203597	NM_001715.3(BLK):c.472+333C>T	BLK, LOC126860303	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1193039	NM_001715.3(BLK):c.433G>A (p.Ala145Thr)	BLK, LOC126860303 (A145T +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1190398	NM_001715.3(BLK):c.175+153G>A	BLK, LOC129999894	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 911982	NM_001715.3(BLK):c.465C>G (p.Thr155=)	BLK, LOC126860303	Single nucleotide variant (synonymous variant)	Maturity-onset diabetes of the young type 11	GLikely benign
Select item 911925	NM_001715.3(BLK):c.-201G>A	BLK, LOC126860302	Single nucleotide variant (5 prime UTR variant)	Maturity-onset diabetes of the young type 11	GUncertain significance
Select item 910760	NM_001715.3(BLK):c.369-2A>G	BLK, LOC126860303	Single nucleotide variant (splice acceptor variant)	Maturity-onset diabetes of the young type 11 +1 more	GBenign/Likely benign
Select item 909000	NM_001715.3(BLK):c.-47C>T	BLK, LOC126860302	Single nucleotide variant (5 prime UTR variant)	Maturity-onset diabetes of the young type 11	GUncertain significance
Select item 908999	NM_001715.3(BLK):c.-76G>A	BLK, LOC126860302	Single nucleotide variant (5 prime UTR variant)	Maturity-onset diabetes of the young type 11	GUncertain significance
Select item 619202	NM_001715.3(BLK):c.392G>A (p.Arg131Gln)	LOC126860303, BLK (R131Q +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 619201	NM_001715.3(BLK):c.391C>T (p.Arg131Trp)	BLK, LOC126860303 (R131W +1 more)	Single nucleotide variant (missense variant)	Maturity-onset diabetes of the young type 11 +2 more	GConflicting classifications of pathogenicity
Select item 434511	NM_001715.3(BLK):c.369-10C>T	BLK, LOC126860303	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 394563	GRCh37/hg19 8p23.1(chr8:11399319-11458293)x3	BLK	Copy number gain	See cases	GUncertain significance
Select item 361480	NM_001715.3(BLK):c.424A>G (p.Ile142Val)	BLK, LOC126860303 (I142V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 361479	NM_001715.3(BLK):c.391C>A (p.Arg131=)	BLK, LOC126860303	Single nucleotide variant (synonymous variant)	Maturity-onset diabetes of the young type 11 +1 more	GBenign
Select item 361472	NM_001715.3(BLK):c.-9T>C	BLK, LOC126860302	Single nucleotide variant (5 prime UTR variant)	Maturity onset diabetes mellitus in young	GUncertain significance
Select item 361471	NM_001715.3(BLK):c.-46A>G	BLK, LOC126860302	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign
Select item 361470	NM_001715.3(BLK):c.-124C>T	BLK, LOC126860302	Single nucleotide variant (5 prime UTR variant)	Maturity-onset diabetes of the young type 11	GUncertain significance
Select item 361469	NM_001715.3(BLK):c.-165G>T	BLK, LOC126860302	Single nucleotide variant (5 prime UTR variant)	Maturity-onset diabetes of the young type 11	GBenign
Select item 361468	NM_001715.3(BLK):c.-190C>T	BLK, LOC126860302	Single nucleotide variant (5 prime UTR variant)	Maturity-onset diabetes of the young type 11	GBenign
Select item 361467	NM_001715.3(BLK):c.-203C>T	BLK, LOC126860302	Single nucleotide variant (5 prime UTR variant)	Maturity-onset diabetes of the young type 11	GUncertain significance
Select item 258179	NM_001715.3(BLK):c.772+16C>T	BLK	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 258178	NM_001715.3(BLK):c.472+12G>A	BLK, LOC126860303	Single nucleotide variant (intron variant)	not specified +3 more	GBenign/Likely benign
Select item 128528	NM_001715.3(BLK):c.435C>T (p.Ala145=)	BLK, LOC126860303	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 12322	NC_000008.11:g.11474238G>A	BLK, FAM167A	Single nucleotide variant	Maturity-onset diabetes of the young type 11	GPathogenic
Select item 12321	NC_000008.11:g.11573132C>T	BLK	Single nucleotide variant	BLK-related condition +1 more	GBenign

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Links from Gene

Items: 48