17718[HGNC] - ClinVar

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Items: 61

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154848	GRCh38/hg38 15q22.2-26.3(chr15:59828460-101920998)x3	LOC130057927, LOC130057928 +1764 more	Copy number gain	See cases	GPathogenic
Select item 154952	GRCh38/hg38 15q23-26.3(chr15:72154949-101920998)x3	LOC116268473, LOC116268474 +1244 more	Copy number gain	See cases	GPathogenic
Select item 147948	GRCh38/hg38 15q25.2-25.3(chr15:82560915-85185613)x1	ADAMTSL3, ALPK3 +119 more	Copy number loss	See cases	GLikely pathogenic
Select item 155058	GRCh38/hg38 15q25.2-25.3(chr15:82627214-85243616)x1	ADAMTSL3, ALPK3 +119 more	Copy number loss	See cases	GLikely pathogenic
Select item 147691	GRCh38/hg38 15q25.2-26.3(chr15:82859676-101810992)x3	LOC130057943, LOC130057944 +664 more	Copy number gain	See cases	GPathogenic
Select item 146595	GRCh38/hg38 15q25.2-26.3(chr15:83711377-101843270)x3	LOC130057907, LOC130057908 +630 more	Copy number gain	See cases	GPathogenic
Select item 58580	GRCh38/hg38 15q25.2-26.3(chr15:84169153-101904929)x3	ABHD2, ACAN +611 more	Copy number gain	See cases	GPathogenic
Select item 153577	GRCh38/hg38 15q25.2-25.3(chr15:84260061-85181753)x1	ALPK3, LINC00933 +42 more	Copy number loss	See cases	GUncertain significance
Select item 154518	GRCh38/hg38 15q25.2-25.3(chr15:84391435-85123078)x3	LOC130057805, LOC130057806 +40 more	Copy number gain	See cases	GUncertain significance
Select item 148405	GRCh38/hg38 15q25.2-25.3(chr15:84391435-85157671)x1	ALPK3, LINC00933 +41 more	Copy number loss	See cases	GUncertain significance
Select item 146523	GRCh38/hg38 15q25.2-25.3(chr15:84391435-85123078)x1	ALPK3, LINC00933 +40 more	Copy number loss	See cases	GUncertain significance
Select item 57536	GRCh38/hg38 15q25.2-25.3(chr15:84391435-85185613)x1	ALPK3, LINC00933 +42 more	Copy number loss	See cases	GUncertain significance
Select item 560037	Single allele	ALPK3, LINC00933 +39 more	Deletion	not provided	GUncertain significance
Select item 2257875	NM_014300.4(SEC11A):c.519C>G (p.Phe173Leu)	SEC11A (F133L +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2555758	NM_014300.4(SEC11A):c.451A>G (p.Ile151Val)	SEC11A (I101V +3 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2243119	NM_014300.4(SEC11A):c.409G>C (p.Asp137His)	SEC11A (D111H +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3317009	NM_014300.4(SEC11A):c.397C>G (p.Leu133Val)	SEC11A (L107V +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3159097	NM_014300.4(SEC11A):c.356C>T (p.Ala119Val)	SEC11A (A69V +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2604522	NM_014300.4(SEC11A):c.55T>C (p.Tyr19His)	SEC11A (Y19H)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2483474	NM_014300.4(SEC11A):c.32G>A (p.Arg11Gln)	SEC11A (R11Q)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3148856	GRCh37/hg19 15q25.2-25.3(chr15:84910816-85790661)x1	ALPK3, NMB +6 more	Copy number loss	not provided	GUncertain significance
Select item 2684767	GRCh37/hg19 15q25.2-25.3(chr15:85084471-85724984)x3	ALPK3, NMB +6 more	Copy number gain	not provided	GUncertain significance
Select item 2684766	GRCh37/hg19 15q25.2-25.3(chr15:83169558-85779567)x3	ADAMTSL3, ALPK3 +19 more	Copy number gain	not provided	GUncertain significance
Select item 2580298	GRCh37/hg19 15q24.1-26.3(chr15:75165490-102520892)x3	ABHD17C, ABHD2 +174 more	Copy number gain	See cases	GPathogenic
Select item 2506555	GRCh37/hg19 15q25.2-25.3(chr15:84908070-85681134)	ALPK3, NMB +6 more	Copy number loss	WDR73-related disorder	GPathogenic
Select item 2498631	GRCh37/hg19 15q25.2-26.3(chr15:84228005-102264590)x3	ABHD2, ACAN +86 more	Copy number gain	not provided	GPathogenic
Select item 2498630	GRCh37/hg19 15q22.33-26.1(chr15:67358491-91644328)x3	AAGAB, ABHD17C +209 more	Copy number gain	not provided	GPathogenic
Select item 1809424	GRCh37/hg19 15q24.3-26.3(chr15:77512817-102035027)x3	ABHD17C, ABHD2 +139 more	Copy number gain	not provided	GPathogenic
Select item 1809087	GRCh37/hg19 15q25.2-25.3(chr15:84910816-85786847)x1	ALPK3, NMB +6 more	Copy number loss	not provided	GUncertain significance
Select item 1808235	GRCh37/hg19 15q25.2-25.3(chr15:85084471-85528298)x3	ALPK3, NMB +6 more	Copy number gain	not provided	GUncertain significance
Select item 1807730	GRCh37/hg19 15q25.2-25.3(chr15:84827469-85786847)x1	ALPK3, NMB +6 more	Copy number loss	not provided	GLikely pathogenic
Select item 1024934	NC_000015.9:g.(?_32964879)_(91358519_?)dup	CGNL1, MAPDA +472 more	Duplication	Familial colorectal cancer +1 more	GUncertain significance
Select item 980541	GRCh37/hg19 15q25.2-25.3(chr15:85089553-85876582)x3	WDR73, ALPK3 +6 more	Copy number gain	not provided	GUncertain significance
Select item 980540	GRCh37/hg19 15q25.2-25.3(chr15:83201955-85786847)x1	ADAMTSL3, ALPK3 +19 more	Copy number loss	not provided	GPathogenic
Select item 815740	GRCh37/hg19 15q25.2-25.3(chr15:84928663-85786847)x1	ALPK3, NMB +6 more	Copy number loss	not provided	GLikely pathogenic
Select item 687710	GRCh37/hg19 15q25.2-25.3(chr15:84884801-85724984)x1	ALPK3, NMB +6 more	Copy number loss	not provided	GPathogenic
Select item 625752	GRCh37/hg19 15q25.2-25.3(chr15:85147499-85681120)	ALPK3, NMB +6 more	Copy number loss	not provided	GLikely pathogenic
Select item 625751	GRCh37/hg19 15q25.2-26.1(chr15:83883823-92165844)	ABHD2, ACAN +58 more	Copy number loss	not provided	GPathogenic
Select item 564223	GRCh37/hg19 15q25.1-25.3(chr15:79023343-87158823)x1,2	ABHD17C, ADAMTS7 +49 more	Copy number gain	not provided	GPathogenic
Select item 564221	GRCh37/hg19 15q24.3-26.3(chr15:77479244-102429112)x3	ABHD17C, ABHD2 +143 more	Copy number gain	not provided	GPathogenic
Select item 564214	GRCh37/hg19 15q23-26.3(chr15:71329220-102270758)x3	ABHD17C, ABHD2 +215 more	Copy number gain	not provided	GPathogenic
Select item 560049	Single allele	PDIA3, PEAK1 +521 more	Duplication	not provided	GPathogenic
Select item 523252	GRCh37/hg19 15q25.2-25.3(chr15:85149690-85666309)	WDR73, ALPK3 +6 more	Copy number loss	Hearing impairment +1 more	GUncertain significance
Select item 503593	GRCh37/hg19 15q25.2-25.3(chr15:85172183-85680021)x3	NMB, ALPK3 +5 more	Copy number gain	See cases	GUncertain significance
Select item 443753	GRCh37/hg19 15q25.2-25.3(chr15:84928829-85724984)x1	ALPK3, NMB +6 more	Copy number loss	See cases	GUncertain significance
Select item 443269	GRCh37/hg19 15q24.2-26.3(chr15:76061144-102429112)x3	ABHD17C, ABHD2 +153 more	Copy number gain	See cases	GPathogenic
Select item 442893	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)x3	AAGAB, ABHD17C +559 more	Copy number gain	See cases	GPathogenic
Select item 442892	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)	NOX5, NPAP1 +559 more	Copy number gain	See cases	GPathogenic
Select item 442875	GRCh37/hg19 15q25.2-25.3(chr15:85084470-85725149)x1	ALPK3, NMB +6 more	Copy number loss	See cases	GUncertain significance
Select item 442282	GRCh37/hg19 15q25.2-25.3(chr15:85084470-85724984)x1	ALPK3, NMB +6 more	Copy number loss	See cases	GUncertain significance
Select item 442279	GRCh37/hg19 15q25.2-25.3(chr15:85085321-85709192)x3	ALPK3, NMB +6 more	Copy number gain	See cases	GUncertain significance
Select item 395145	GRCh37/hg19 15q11.2-26.3(chr15:20733395-102511616)x4	CHRFAM7A, CHRM5 +566 more	Copy number gain	See cases	GPathogenic
Select item 394887	GRCh37/hg19 15q15.1-26.3(chr15:41745084-102354798)x4	ALDH1A2, ALDH1A3 +444 more	Copy number gain	See cases	GPathogenic
Select item 394871	GRCh37/hg19 15q25.2-26.3(chr15:85089467-102495441)x3	ABHD2, ACAN +87 more	Copy number gain	See cases	GPathogenic
Select item 394016	GRCh37/hg19 15q25.2-25.3(chr15:85146993-85670946)x1	SEC11A, SLC28A1 +6 more	Copy number loss	See cases	GUncertain significance
Select item 394014	GRCh37/hg19 15q25.2-25.3(chr15:85146993-85670946)x3	SLC28A1, WDR73 +6 more	Copy number gain	See cases	GUncertain significance
Select item 393544	GRCh37/hg19 15q25.2-25.3(chr15:84931022-85728834)x1	SLC28A1, WDR73 +6 more	Copy number loss	VATER association	GLikely benign
Select item 369835	GRCh37/hg19 15q22.1-26.3(chr15:59297293-102480888)x3	WHAMM, CCNB2 +308 more	Copy number gain	not provided	GLikely pathogenic
Select item 369833	GRCh37/hg19 15q25.2-25.3(chr15:84789775-85710777)x3	ALPK3, NMB +6 more	Copy number gain	not provided	GUncertain significance
Select item 253774	GRCh37/hg19 15q25.2-25.3(chr15:85146993-85671005)x1	ZNF592, SEC11A +6 more	Copy number loss	See cases	GUncertain significance
Select item 253516	GRCh37/hg19 15q22.31-26.3(chr15:64637227-102509910)x3	AAGAB, ABHD17C +278 more	Copy number gain	See cases	GPathogenic

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Items: 61