5315[Gene ID] - ClinVar

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Items: 43

	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 57140	GRCh38/hg38 15q23-24.1(chr15:68830574-73823337)x1	ADPGK, ADPGK-AS1 +197 more	Copy number loss	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 58353	GRCh38/hg38 15q23-24.1(chr15:72058544-72481033)x3	ARIH1, CELF6 +33 more	Copy number gain	See cases	GUncertain significance
Select item 154952	GRCh38/hg38 15q23-26.3(chr15:72154949-101920998)x3	LOC116268473, LOC116268474 +1244 more	Copy number gain	See cases	GPathogenic
Select item 3213885	NM_002654.6(PKM):c.1592C>T (p.Pro531Leu)	PKM (P566L +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213884	NM_002654.6(PKM):c.1334G>A (p.Arg445His)	PKM (R480H +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386266	NM_002654.6(PKM):c.1288G>A (p.Val430Ile)	PKM (V356I +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 403312	NM_002654.6(PKM):c.1248C>T (p.Ala416=)	PKM	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 3307049	NM_002654.6(PKM):c.1199G>T (p.Arg400Leu)	PKM (R400L +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3213882	NM_002654.6(PKM):c.1196G>A (p.Arg399His)	PKM (R399H +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2268806	NM_002654.6(PKM):c.1015C>T (p.Arg339Cys)	PKM (R339C +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486304	NM_002654.6(PKM):c.947G>A (p.Arg316Gln)	PKM (R321Q +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285956	NM_002654.6(PKM):c.832C>T (p.Arg278Trp)	PKM (R204W +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 252568	NM_002654.6(PKM):c.793A>G (p.Ile265Val)	PKM (I339V +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3307050	NM_002654.6(PKM):c.749A>C (p.Asp250Ala)	PKM (D235A +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 730512	NM_002654.6(PKM):c.726G>A (p.Ala242=)	PKM	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2344933	NM_002654.6(PKM):c.706G>A (p.Asp236Asn)	PKM (D162N +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 745689	NM_002654.6(PKM):c.699C>T (p.Val233=)	PKM	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3307047	NM_002654.6(PKM):c.623G>T (p.Gly208Val)	PKM (G208V +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 788588	NM_002654.6(PKM):c.607T>C (p.Leu203=)	PKM	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2514621	NM_002654.6(PKM):c.515G>A (p.Ser172Asn)	PKM (S157N +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 403311	NM_002654.6(PKM):c.438C>T (p.Asn146=)	PKM	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 718586	NM_002654.6(PKM):c.429G>A (p.Thr143=)	PKM	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 745784	NM_002654.6(PKM):c.381C>T (p.Ser127=)	PKM	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3213886	NM_002654.6(PKM):c.343A>G (p.Lys115Glu)	PKM (K189E +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2364736	NM_002654.6(PKM):c.317G>A (p.Arg106Gln)	PKM (R111Q +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3307046	NM_002654.6(PKM):c.108T>C (p.Asp36=)	PKM (I52T)	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 3307048	NM_002654.6(PKM):c.72C>T (p.Asp24=)	PKM (T40I)	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 2402843	NM_002654.6(PKM):c.22G>A (p.Ala8Thr)	PKM (A8T +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 1458323	NC_000015.9:g.(?_72103084)_(74244178_?)del	ADPGK, ARIH1 +19 more	Deletion	Tay-Sachs disease	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 980531	GRCh37/hg19 15q23-24.1(chr15:70268937-74098081)x1	BBS4, NR2E3 +24 more	Copy number loss	not provided	GLikely pathogenic
Select item 685106	GRCh37/hg19 15q23(chr15:72373639-72577870)x1	CELF6, MYO9A +4 more	Copy number loss	not provided	GUncertain significance
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 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 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: 43