640[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59736	GRCh38/hg38 8p23.3-23.1(chr8:96310-12021806)x3	AGPAT5, ANGPT2 +380 more	Copy number gain	See cases	GPathogenic
Select item 59735	GRCh38/hg38 8p23.3-12(chr8:96310-30614703)x3	ADAM28, ADAM7 +979 more	Copy number gain	See cases	GPathogenic
Select item 153413	GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3	LOC126860438, LOC126860439 +3663 more	Copy number gain	See cases	GPathogenic
Select item 155181	GRCh38/hg38 8p23.3-23.1(chr8:226452-12698554)x3	LOC129999827, LOC129999828 +393 more	Copy number gain	See cases	GPathogenic
Select item 154791	GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	AARD, ABRA +3663 more	Copy number gain	See cases	GPathogenic
Select item 152917	GRCh38/hg38 8p23.3-22(chr8:226452-16280146)x3	LOC101929290, LOC102723313 +448 more	Copy number gain	See cases	GPathogenic
Select item 152909	GRCh38/hg38 8p23.3-12(chr8:226452-34491890)x3	LOC130000099, LOC130000100 +1040 more	Copy number gain	See cases	GPathogenic
Select item 148922	GRCh38/hg38 8p23.3-23.1(chr8:226452-12712987)x3	LOC123987611, LOC123987612 +393 more	Copy number gain	See cases	GPathogenic
Select item 148741	GRCh38/hg38 8p23.3-11.23(chr8:226452-38021728)x3	LOC130000032, LOC130000033 +1105 more	Copy number gain	See cases	GPathogenic
Select item 146718	GRCh38/hg38 8p23.3-21.3(chr8:241530-23198398)x3	LOC129999940, LOC129999941 +687 more	Copy number gain	See cases	GPathogenic
Select item 59739	GRCh38/hg38 8p23.3-22(chr8:241530-17678697)x3	LOC101929290, LOC102723313 +471 more	Copy number gain	See cases	GPathogenic
Select item 59738	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 57496	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3	LOC105379224, LOC105379230 +3657 more	Copy number gain	See cases	GPathogenic
Select item 149882	GRCh38/hg38 8p23.3-12(chr8:241605-31091074)x3	LOC129999950, LOC129999951 +996 more	Copy number gain	See cases	GPathogenic
Select item 149660	GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 146786	GRCh38/hg38 8p23.3-21.2(chr8:241605-24656971)x3	LOC129999950, LOC129999951 +736 more	Copy number gain	See cases	GPathogenic
Select item 2579290	GRCh38/hg38 8p23.3-21.2(chr8:449893-23854904)x1	LOC126860300, LOC126860301 +720 more	Copy number loss	Neurodevelopmental disorder	GPathogenic
Select item 161037	GRCh38/hg38 8p23.2-21.1(chr8:2475295-27504279)x1	ADAM28, ADAM7 +773 more	Copy number loss	See cases	GPathogenic
Select item 32400	GRCh38/hg38 8p23.3-21.1(chr8:2475295-27504279)x1	XKR5, XKR6 +773 more	Copy number loss	See cases	GPathogenic
Select item 150028	GRCh38/hg38 8p23.2-23.1(chr8:3934205-11526939)x1	AGPAT5, ANGPT2 +259 more	Copy number loss	See cases	GPathogenic
Select item 149529	GRCh38/hg38 8p23.1(chr8:7103661-12299882)x3	DEFB103B, DEFB104A +256 more	Copy number gain	See cases	GPathogenic
Select item 151133	GRCh38/hg38 8p23.1-11.22(chr8:7141697-38695546)x3	DPYSL2, DUSP26 +1020 more	Copy number gain	See cases	GPathogenic
Select item 59322	GRCh38/hg38 8p23.1(chr8:7195664-12383643)x1	LOC129999906, LOC129999907 +258 more	Copy number loss	See cases	GPathogenic
Select item 59332	GRCh38/hg38 8p23.1(chr8:7234837-12514815)x1	BLK, C8orf74 +260 more	Copy number loss	See cases	GPathogenic
Select item 147315	GRCh38/hg38 8p23.1(chr8:7311968-12546553)x1	BLK, C8orf74 +255 more	Copy number loss	See cases	GPathogenic
Select item 147314	GRCh38/hg38 8p23.1(chr8:7311968-12546553)x3	LOC129999824, LOC129999825 +255 more	Copy number gain	See cases	GPathogenic
Select item 59334	GRCh38/hg38 8p23.1(chr8:7411297-11961807)x1	BLK, C8orf74 +232 more	Copy number loss	See cases	GPathogenic
Select item 57482	GRCh38/hg38 8p23.1(chr8:7411297-12182465)x3	BLK, C8orf74 +241 more	Copy number gain	See cases	GPathogenic
Select item 144766	GRCh38/hg38 8p23.1(chr8:7834379-12182465)x3	BLK, C8orf74 +217 more	Copy number gain	See cases	GPathogenic
Select item 161086	GRCh38/hg38 8p23.1(chr8:8222339-12182465)x1	BLK, C8orf74 +205 more	Copy number loss	See cases	GPathogenic
Select item 152312	GRCh38/hg38 8p23.1(chr8:8222339-11984333)x1	LOC129999867, LOC129999868 +198 more	Copy number loss	See cases	GPathogenic
Select item 148798	GRCh38/hg38 8p23.1(chr8:8222339-12050329)x3	BLK, C8orf74 +199 more	Copy number gain	See cases	GLikely pathogenic
Select item 144130	GRCh38/hg38 8p23.1(chr8:8222339-12182465)x1	FAM85B, FAM86B1 +205 more	Copy number loss	See cases	GPathogenic
Select item 57060	GRCh38/hg38 8p23.1(chr8:8222339-12383643)x1	BLK, C8orf74 +208 more	Copy number loss	See cases	GPathogenic
Select item 155213	GRCh38/hg38 8p23.1(chr8:8235544-12088347)x3	BLK, C8orf74 +196 more	Copy number gain	See cases	GPathogenic
Select item 155289	GRCh38/hg38 8p23.1(chr8:8235647-12077956)x1	BLK, C8orf74 +196 more	Copy number loss	See cases	GPathogenic
Select item 153672	GRCh38/hg38 8p23.1(chr8:8235647-12037723)x1	BLK, C8orf74 +195 more	Copy number loss	See cases	GPathogenic
Select item 149562	GRCh38/hg38 8p23.1(chr8:8253505-12003060)x1	BLK, C8orf74 +193 more	Copy number loss	See cases	GPathogenic
Select item 148431	GRCh38/hg38 8p23.1(chr8:8253505-12610034)x1	BLK, C8orf74 +207 more	Copy number loss	See cases	GPathogenic
Select item 161001	GRCh38/hg38 8p23.1(chr8:8273108-11948451)x3	BLK, C8orf74 +189 more	Copy number gain	See cases	GPathogenic
Select item 154643	GRCh38/hg38 8p23.1(chr8:8273108-12610034)x1	BLK, C8orf74 +206 more	Copy number loss	See cases	GPathogenic
Select item 146493	GRCh38/hg38 8p23.1(chr8:8273108-12383643)x1	BLK, C8orf74 +201 more	Copy number loss	See cases	GPathogenic
Select item 146455	GRCh38/hg38 8p23.1(chr8:8273108-11948451)x1	BLK, C8orf74 +189 more	Copy number loss	See cases	GPathogenic
Select item 145585	GRCh38/hg38 8p23.1(chr8:8273108-12546553)x3	PPP1R3B, PPP1R3B-DT +205 more	Copy number gain	See cases	GPathogenic
Select item 59640	GRCh38/hg38 8p23.1(chr8:8336212-12021806)x3	BLK, C8orf74 +188 more	Copy number gain	See cases	GPathogenic
Select item 59639	GRCh38/hg38 8p23.1(chr8:8336212-11984392)x1	LOC129999836, LOC129999837 +187 more	Copy number loss	See cases	GPathogenic
Select item 59638	GRCh38/hg38 8p23.1(chr8:8336212-11984392)x3	BLK, C8orf74 +187 more	Copy number gain	See cases	GPathogenic
Select item 144626	GRCh38/hg38 8p23.1(chr8:8545843-11814470)x1	MTMR9, NEIL2 +160 more	Copy number loss	See cases	GPathogenic
Select item 60348	GRCh38/hg38 8p23.1(chr8:9924272-11573632)x1	BLK, C8orf74 +86 more	Copy number loss	See cases	GPathogenic
Select item 58400	GRCh38/hg38 8p23.1(chr8:9970431-11984392)x3	LOC129999854, LOC129999855 +122 more	Copy number gain	See cases	GPathogenic
Select item 58402	GRCh38/hg38 8p23.1(chr8:10094463-11518412)x3	BLK, C8orf74 +72 more	Copy number gain	See cases	GUncertain significance
Select item 152255	GRCh38/hg38 8p23.1(chr8:10510192-12003060)x3	BLK, C8orf74 +116 more	Copy number gain	See cases	GUncertain significance
Select item 57156	GRCh38/hg38 8p23.1(chr8:11112581-11948451)x3	LOC129999890, LOC129999891 +88 more	Copy number gain	See cases	GUncertain significance
Select item 152873	GRCh38/hg38 8p23.1(chr8:11440972-11984333)x3	BLK, CTSB +67 more	Copy number gain	See cases	GPathogenic
Select item 3045986	NC_000008.11:g.11474237T>A	BLK, FAM167A	Single nucleotide variant	BLK-related disorder	GLikely benign
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 361456	NM_001715.2(BLK):c.-531C>T	BLK, LOC126860302	Single nucleotide variant	Maturity onset diabetes mellitus in young	GUncertain significance
Select item 361457	NM_001715.2(BLK):c.-530G>A	BLK, LOC126860302	Single nucleotide variant	Maturity onset diabetes mellitus in young	GLikely benign
Select item 361458	NM_001715.2(BLK):c.-484G>A	BLK, LOC126860302	Single nucleotide variant	Maturity onset diabetes mellitus in young	GUncertain significance
Select item 361459	NM_001715.2(BLK):c.-475A>C	BLK, LOC126860302	Single nucleotide variant	Maturity onset diabetes mellitus in young	GUncertain significance
Select item 361460	NM_001715.2(BLK):c.-448T>C	BLK, LOC126860302	Single nucleotide variant	not provided +1 more	GLikely benign
Select item 361461	NM_001715.2(BLK):c.-441C>A	BLK, LOC126860302	Single nucleotide variant	not provided +1 more	GBenign/Likely benign
Select item 361462	NM_001715.2(BLK):c.-440G>A	BLK, LOC126860302	Single nucleotide variant	not provided +1 more	GUncertain significance
Select item 361463	NM_001715.2(BLK):c.-375G>A	BLK, LOC126860302	Single nucleotide variant	Maturity onset diabetes mellitus in young	GUncertain significance
Select item 361464	NM_001715.2(BLK):c.-304C>G	BLK, LOC126860302	Single nucleotide variant	Maturity onset diabetes mellitus in young	GLikely benign
Select item 361465	NM_001715.2(BLK):c.-267C>T	BLK, LOC126860302	Single nucleotide variant	Maturity onset diabetes mellitus in young	GUncertain significance
Select item 361466	NM_001715.2(BLK):c.-209C>T	BLK, LOC126860302	Single nucleotide variant	Maturity onset diabetes mellitus in young	GUncertain significance
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 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 361468	NM_001715.3(BLK):c.-190C>T	LOC126860302, BLK	Single nucleotide variant (5 prime UTR variant)	Maturity-onset diabetes of the young type 11 +1 more	GBenign
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 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 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 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 361471	NM_001715.3(BLK):c.-46A>G	BLK, LOC126860302	Single nucleotide variant (5 prime UTR variant)	not provided +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 152198	GRCh38/hg38 8p23.1(chr8:11505173-11526880)x3	BLK, LOC129999888 +1 more	Copy number gain	See cases	GLikely benign
Select item 144940	GRCh38/hg38 8p23.1(chr8:11534277-11562107)x3	BLK, LOC126860303 +6 more	Copy number gain	See cases	GBenign
Select item 1271417	NM_001715.3(BLK):c.-1-278T>G	BLK	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1252213	NM_001715.3(BLK):c.-1-254C>A	BLK	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1192422	NM_001715.3(BLK):c.-1-105C>G	BLK	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1293437	NM_001715.3(BLK):c.-1-83G>A	BLK	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1192423	NM_001715.3(BLK):c.-1-53G>A	BLK	Single nucleotide variant (intron variant)	Maturity-onset diabetes of the young type 11 +2 more	GBenign
Select item 3024193	NM_001715.3(BLK):c.8T>C (p.Leu3Pro)	BLK (L3P)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1441808	NM_001715.3(BLK):c.10G>T (p.Val4Leu)	BLK (V4L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1907423	NM_001715.3(BLK):c.14G>A (p.Ser5Asn)	BLK (S5N)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 909001	NM_001715.3(BLK):c.18C>T (p.Ser6=)	BLK	Single nucleotide variant (synonymous variant +1 more)	Maturity-onset diabetes of the young type 11	GLikely benign
Select item 2756044	NM_001715.3(BLK):c.26C>T (p.Pro9Leu)	BLK (P9L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1649647	NM_001715.3(BLK):c.27G>A (p.Pro9=)	BLK	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 258177	NM_001715.3(BLK):c.39G>A (p.Lys13=)	BLK	Single nucleotide variant (synonymous variant +1 more)	Systemic lupus erythematosus +3 more	GBenign
Select item 361473	NM_001715.3(BLK):c.41C>T (p.Pro14Leu)	BLK (P14L)	Single nucleotide variant (missense variant +1 more)	Maturity onset diabetes mellitus in young	GUncertain significance
Select item 549525	NM_001715.3(BLK):c.67T>C (p.Trp23Arg)	BLK (W23R)	Single nucleotide variant (missense variant +1 more)	Maturity-onset diabetes of the young type 11 +2 more	GUncertain significance
Select item 3052293	NM_001715.3(BLK):c.72C>T (p.Ser24=)	BLK	Single nucleotide variant (synonymous variant +1 more)	BLK-related disorder	GLikely benign
Select item 1219894	NM_001715.3(BLK):c.81G>A (p.Lys27=)	BLK	Single nucleotide variant (synonymous variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 1029524	NM_001715.3(BLK):c.84C>A (p.Val28=)	BLK	Single nucleotide variant (synonymous variant +1 more)	Maturity-onset diabetes of the young type 11	GUncertain significance
Select item 2694887	NM_001715.3(BLK):c.88G>A (p.Ala30Thr)	BLK (A30T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 909863	NM_001715.3(BLK):c.93A>G (p.Gln31=)	BLK	Single nucleotide variant (synonymous variant +1 more)	Maturity-onset diabetes of the young type 11	GLikely benign
Select item 128525	NM_001715.3(BLK):c.102C>T (p.Asp34=)	BLK	Single nucleotide variant (synonymous variant +1 more)	Systemic lupus erythematosus +3 more	GBenign/Likely benign
Select item 3134121	NM_001715.3(BLK):c.103G>A (p.Ala35Thr)	BLK (A35T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1460936	NM_001715.3(BLK):c.108G>A (p.Pro36=)	BLK	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign

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