5001[HGNC] - ClinVar

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Items: 47

	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 153193	GRCh38/hg38 15q23-25.1(chr15:70025300-78705993)x1	ACSBG1, ADPGK +487 more	Copy number loss	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 545183	Single allele	MIR6882, MPI +258 more	Duplication	Schizophrenia	GLikely pathogenic
Select item 147979	GRCh38/hg38 15q24.2-25.1(chr15:76006154-79982417)x1	LOC130057730, LOC132090332 +175 more	Copy number loss	See cases	GPathogenic
Select item 150085	GRCh38/hg38 15q24.3(chr15:77193423-77828917)x3	HMG20A, LINC00597 +17 more	Copy number gain	See cases	GLikely benign
Select item 145704	GRCh38/hg38 15q24.3(chr15:77430520-77444701)x3	HMG20A	Copy number gain	See cases	GBenign
Select item 3034449	NM_001304504.2(HMG20A):c.-1G>A	HMG20A	Single nucleotide variant (5 prime UTR variant)	HMG20A-related disorder	GLikely benign
Select item 710819	NM_001304504.2(HMG20A):c.26C>T (p.Thr9Ile)	HMG20A (T9I)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 3106253	NM_001304504.2(HMG20A):c.32C>T (p.Pro11Leu)	HMG20A (P11L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3049848	NM_001304504.2(HMG20A):c.54C>T (p.Asp18=)	HMG20A	Single nucleotide variant (synonymous variant +1 more)	HMG20A-related disorder	GLikely benign
Select item 2529829	NM_001304504.2(HMG20A):c.116G>A (p.Ser39Asn)	HMG20A (S39N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3106252	NM_001304504.2(HMG20A):c.176A>G (p.Gln59Arg)	HMG20A (Q59R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2606529	NM_001304504.2(HMG20A):c.335G>A (p.Arg112Gln)	HMG20A (R112Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3106254	NM_001304504.2(HMG20A):c.484C>T (p.Arg162Cys)	HMG20A (R49C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106255	NM_001304504.2(HMG20A):c.538A>C (p.Ser180Arg)	HMG20A (S180R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284483	NM_001304504.2(HMG20A):c.555C>G (p.Asp185Glu)	HMG20A (D72E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106256	NM_001304504.2(HMG20A):c.556C>T (p.Arg186Cys)	HMG20A (R73C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284482	NM_001304504.2(HMG20A):c.598G>A (p.Ala200Thr)	HMG20A (A87T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284484	NM_001304504.2(HMG20A):c.637C>T (p.Arg213Trp)	HMG20A (R100W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535657	NM_001304504.2(HMG20A):c.638G>A (p.Arg213Gln)	HMG20A (R100Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286874	NM_001304504.2(HMG20A):c.680A>G (p.Asn227Ser)	HMG20A (N114S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264170	NM_001304504.2(HMG20A):c.769G>A (p.Val257Met)	HMG20A (V257M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2397981	NM_001304504.2(HMG20A):c.827G>C (p.Ser276Thr)	HMG20A (S163T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242676	NM_001304504.2(HMG20A):c.865C>T (p.Arg289Trp)	HMG20A (R176W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310137	NM_001304504.2(HMG20A):c.871G>A (p.Val291Met)	HMG20A (V291M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287491	NM_001304504.2(HMG20A):c.889G>A (p.Ala297Thr)	HMG20A (A184T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265120	NM_001304504.2(HMG20A):c.925A>G (p.Thr309Ala)	HMG20A (T196A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2622738	NM_001304504.2(HMG20A):c.983C>A (p.Pro328His)	HMG20A (P215H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370028	NM_001304504.2(HMG20A):c.1040G>A (p.Arg347His)	HMG20A (R347H +1 more)	Single nucleotide variant (missense variant)	not specified	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 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 1808735	GRCh37/hg19 15q24.1-24.3(chr15:74353736-77884397)x1	ARID3B, C15orf39 +48 more	Copy number loss	not provided	GPathogenic
Select item 1024934	NC_000015.9:g.(?_32964879)_(91358519_?)dup	CGNL1, MAPDA +472 more	Duplication	Familial colorectal cancer +1 more	GUncertain significance
Select item 624477	GRCh37/hg19 15q24.3(chr15:77684224-77992234)x3	LINGO1, PEAK1 +1 more	Copy number gain	not provided	GLikely benign
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 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 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 369835	GRCh37/hg19 15q22.1-26.3(chr15:59297293-102480888)x3	WHAMM, CCNB2 +308 more	Copy number gain	not provided	GLikely pathogenic
Select item 254015	GRCh37/hg19 15q24.1-24.3(chr15:74368270-78122737)x3	ARID3B, C15orf39 +49 more	Copy number gain	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: 47