10397[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 154952	GRCh38/hg38 15q23-26.3(chr15:72154949-101920998)x3	LOC116268473, LOC116268474 +1244 more	Copy number gain	See cases	GPathogenic
Select item 2579211	GRCh38/hg38 15q25.2(chr15:82130136-82727529)x1	AP3B2, CPEB1 +19 more	Copy number loss	Diamond-Blackfan anemia 4	GPathogenic
Select item 1736105	NM_001021.6(RPS17):c.390G>A (p.Thr130=)	RPS17	Single nucleotide variant (synonymous variant +1 more)	Diamond-Blackfan anemia	GLikely benign
Select item 506484	NM_001021.6(RPS17):c.328-7G>A	RPS17	Single nucleotide variant (intron variant)	Diamond-Blackfan anemia 4 +1 more	GLikely benign
Select item 1686316	NM_001021.6(RPS17):c.327+80G>A	RPS17	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 1223515	NM_001021.6(RPS17):c.312A>G (p.Glu104=)	RPS17	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GLikely benign
Select item 13000	NM_001021.6(RPS17):c.201_202del (p.Gly68fs)	RPS17 (G68fs)	Microsatellite (frameshift variant +1 more)	Diamond-Blackfan anemia 4	GPathogenic
Select item 419839	NM_001021.6(RPS17):c.159T>C (p.Tyr53=)	RPS17	Single nucleotide variant (synonymous variant +1 more)	Diamond-Blackfan anemia +1 more	GConflicting classifications of pathogenicity
Select item 100625	NM_001021.6(RPS17):c.159T>G (p.Tyr53Ter)	RPS17 (Y53*)	Single nucleotide variant (nonsense +1 more)	Diamond-Blackfan anemia 4	GPathogenic
Select item 2428499	NM_001021.6(RPS17):c.156-1G>A	RPS17	Single nucleotide variant (splice acceptor variant)	Diamond-Blackfan anemia 4	GLikely pathogenic
Select item 449634	NM_001021.6(RPS17):c.152_154del (p.Ala51del)	RPS17 (A51del)	Deletion (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 3347383	NM_001021.6(RPS17):c.130A>C (p.Lys44Gln)	RPS17 (K44Q)	Single nucleotide variant (missense variant +1 more)	RPS17-related condition	GUncertain significance
Select item 1764995	NM_001021.6(RPS17):c.126C>T (p.Pro42=)	RPS17	Single nucleotide variant (synonymous variant +1 more)	Diamond-Blackfan anemia	GLikely benign
Select item 1751600	NM_001021.6(RPS17):c.60del (p.Tyr21fs)	RPS17 (Y21fs)	Deletion (frameshift variant +1 more)	Diamond-Blackfan anemia	GPathogenic
Select item 1741787	NM_001021.6(RPS17):c.45C>T (p.Val15=)	RPS17	Single nucleotide variant (synonymous variant +1 more)	Diamond-Blackfan anemia	GLikely benign
Select item 3232363	NM_001021.6(RPS17):c.39C>T (p.Ala13=)	RPS17	Single nucleotide variant (synonymous variant +1 more)	Diamond-Blackfan anemia	GLikely benign
Select item 2506833	NM_001021.6(RPS17):c.14G>T (p.Arg5Leu)	RPS17 (R5L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1235999	NM_001021.6(RPS17):c.3+132C>G	RPS17	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 12999	NM_001021.6(RPS17):c.2T>G (p.Met1Arg)	RPS17 (M1R)	Single nucleotide variant (missense variant +2 more)	Diamond-Blackfan anemia	GPathogenic
Select item 1784170	NM_001021.6(RPS17):c.1A>G (p.Met1Val)	RPS17 (M1V)	Single nucleotide variant (missense variant +2 more)	Diamond-Blackfan anemia	GPathogenic
Select item 1686317	NC_000015.10:g.82540460G>A	RPS17	Single nucleotide variant	not specified	GBenign
Select item 1281417	NC_000015.10:g.82540482A>T	LOC130057768, RPS17	Single nucleotide variant	not provided	GBenign
Select item 1699873	NC_000015.10:g.82540485C>T	LOC130057768, RPS17	Single nucleotide variant	not provided	GLikely benign
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 1807747	GRCh37/hg19 15q25.2(chr15:82631657-83198302)x1	RPS17	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 688687	GRCh37/hg19 15q25.1-25.2(chr15:80728654-84107646)x1	ABHD17C, AP3B2 +22 more	Copy number loss	not provided	GPathogenic
Select item 687860	GRCh37/hg19 15q25.2(chr15:82688216-84796779)x1	ADAMTSL3, AP3B2 +12 more	Copy number loss	not provided	GPathogenic
Select item 685629	GRCh37/hg19 15q25.2(chr15:82468371-84797068)x3	ADAMTSL3, AP3B2 +14 more	Copy number gain	not provided	GUncertain significance
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 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 441779	GRCh37/hg19 15q25.2(chr15:82606408-84970771)x3	ADAMTSL3, AP3B2 +12 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 395044	GRCh37/hg19 15q25.1-25.2(chr15:80703867-83955596)x1	ABHD17C, AP3B2 +22 more	Copy number loss	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 253956	GRCh37/hg19 15q25.2(chr15:82133231-83455333)x3	FSD2, EFL1 +6 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
Select item 88976	NG_009890.2:g.(5565_6559)_(8796_9460)del	RPS17	Deletion	Diamond-Blackfan anemia 4	GPathogenic

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Items: 47