19137[HGNC] - ClinVar

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Items: 90

	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 154952	GRCh38/hg38 15q23-26.3(chr15:72154949-101920998)x3	LOC116268473, LOC116268474 +1244 more	Copy number gain	See cases	GPathogenic
Select item 58078	GRCh38/hg38 15q24.1-24.2(chr15:72629028-75242989)x3	ADPGK, ADPGK-AS1 +204 more	Copy number gain	See cases	GPathogenic
Select item 545182	Single allele	LOC130057525, LOC130057526 +205 more	Duplication	Schizophrenia	GLikely pathogenic
Select item 154681	GRCh38/hg38 15q24.1-24.2(chr15:72671629-75242989)x1	LOC130057584, LOC130057585 +202 more	Copy number loss	See cases	GPathogenic
Select item 148272	GRCh38/hg38 15q24.1-24.2(chr15:72671629-75199803)x1	ADPGK, ADPGK-AS1 +195 more	Copy number loss	See cases	GLikely pathogenic
Select item 57428	GRCh38/hg38 15q24.1-24.2(chr15:72671629-75662276)x1	ADPGK, ADPGK-AS1 +236 more	Copy number loss	See cases	GPathogenic
Select item 153074	GRCh38/hg38 15q24.1-24.2(chr15:72685231-75727625)x1	LOC130057567, LOC130057568 +243 more	Copy number loss	See cases	GPathogenic
Select item 2481281	NM_001024736.2(CD276):c.82G>T (p.Ala28Ser)	CD276 (A28S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3140490	NM_001024736.2(CD276):c.91G>A (p.Val31Ile)	CD276 (V31I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2546409	NM_001024736.2(CD276):c.100C>T (p.Pro34Ser)	CD276 (P34S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3264791	NM_001024736.2(CD276):c.145T>C (p.Cys49Arg)	CD276 (C49R)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3140483	NM_001024736.2(CD276):c.152C>T (p.Ser51Phe)	CD276 (S51F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2480208	NM_001024736.2(CD276):c.166C>T (p.Pro56Ser)	CD276 (P56S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2383944	NM_001024736.2(CD276):c.187C>G (p.Leu63Val)	CD276 (L63V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2508511	NM_001024736.2(CD276):c.334G>A (p.Val112Met)	CD276 (V112M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 207869	NM_001024736.2(CD276):c.338G>A (p.Arg113His)	CD276 (R113H)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome	GLikely benign
Select item 2210537	NM_001024736.2(CD276):c.349G>A (p.Glu117Lys)	CD276 (E117K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3140484	NM_001024736.2(CD276):c.366C>G (p.Cys122Trp)	CD276 (C122W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3140485	NM_001024736.2(CD276):c.370G>A (p.Val124Met)	CD276 (V124M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3264790	NM_001024736.2(CD276):c.379C>T (p.Arg127Trp)	CD276 (R127W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2539501	NM_001024736.2(CD276):c.380G>A (p.Arg127Gln)	CD276 (R127Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3264797	NM_001024736.2(CD276):c.382G>A (p.Asp128Asn)	CD276 (D128N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3140486	NM_001024736.2(CD276):c.400G>A (p.Val134Ile)	CD276 (V134I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2362654	NM_001024736.2(CD276):c.401T>C (p.Val134Ala)	CD276 (V134A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3264795	NM_001024736.2(CD276):c.497C>T (p.Ser166Phe)	CD276 (S166F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2330879	NM_001024736.2(CD276):c.509G>A (p.Gly170Asp)	CD276 (G170D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3140487	NM_001024736.2(CD276):c.544C>A (p.Gln182Lys)	CD276 (Q182K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2381613	NM_001024736.2(CD276):c.545A>C (p.Gln182Pro)	CD276 (Q182P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3140488	NM_001024736.2(CD276):c.655A>G (p.Ser219Gly)	CD276 (S73G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2462870	NM_001024736.2(CD276):c.676G>A (p.Val226Met)	CD276 (V226M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3140489	NM_001024736.2(CD276):c.690T>G (p.Asp230Glu)	CD276 (D230E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2534940	NM_001024736.2(CD276):c.715C>T (p.Pro239Ser)	CD276 (P93S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 750335	NM_001024736.2(CD276):c.734-10C>T	CD276	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 722881	NM_001024736.2(CD276):c.734-7C>T	CD276	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2392427	NM_001024736.2(CD276):c.812C>T (p.Ser271Phe)	CD276 (S271F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2455022	NM_001024736.2(CD276):c.817G>A (p.Glu273Lys)	CD276 (E273K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2470153	NM_001024736.2(CD276):c.902G>A (p.Arg301Gln)	CD276 (R155Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2250747	NM_001024736.2(CD276):c.988G>A (p.Val330Met)	CD276 (V184M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2222976	NM_001024736.2(CD276):c.992G>A (p.Arg331His)	CD276 (R185H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2258901	NM_001024736.2(CD276):c.1006G>A (p.Gly336Ser)	CD276 (G336S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3140480	NM_001024736.2(CD276):c.1033C>T (p.Arg345Trp)	CD276 (R199W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2250796	NM_001024736.2(CD276):c.1048G>A (p.Ala350Thr)	CD276 (A204T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2557005	NM_001024736.2(CD276):c.1052C>T (p.Ala351Val)	CD276 (A205V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3264792	NM_001024736.2(CD276):c.1093A>T (p.Met365Leu)	CD276 (M219L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600448	NM_001024736.2(CD276):c.1093A>C (p.Met365Leu)	CD276 (M147L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557171	NM_001024736.2(CD276):c.1120C>T (p.Arg374Trp)	CD276 (R374W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469064	NM_001024736.2(CD276):c.1121G>A (p.Arg374Gln)	CD276 (R228Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531513	NM_001024736.2(CD276):c.1154G>T (p.Ser385Ile)	CD276 (S167I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512431	NM_001024736.2(CD276):c.1185C>A (p.Phe395Leu)	CD276 (F177L +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2345545	NM_001024736.2(CD276):c.1232C>T (p.Ser411Leu)	CD276 (S411L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 779896	NM_001024736.2(CD276):c.1257G>A (p.Leu419=)	CD276	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2592295	NM_001024736.2(CD276):c.1273G>A (p.Val425Ile)	CD276 (V279I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264793	NM_001024736.2(CD276):c.1316T>A (p.Leu439Gln)	CD276 (L221Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298606	NM_001024736.2(CD276):c.1318G>C (p.Val440Leu)	CD276 (V222L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140481	NM_001024736.2(CD276):c.1328C>G (p.Pro443Arg)	CD276 (P225R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391928	NM_001024736.2(CD276):c.1346C>T (p.Ala449Val)	CD276 (A303V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259183	NM_001024736.2(CD276):c.1352G>C (p.Gly451Ala)	CD276 (G233A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264796	NM_001024736.2(CD276):c.1391C>T (p.Pro464Leu)	CD276 (P246L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264794	NM_001024736.2(CD276):c.1395G>C (p.Glu465Asp)	CD276 (E247D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140482	NM_001024736.2(CD276):c.1405G>A (p.Val469Met)	CD276 (V251M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406331	NM_001024736.2(CD276):c.1489G>C (p.Glu497Gln)	CD276 (E497Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3243817	NC_000015.9:g.(?_72978569)_(75190071_?)del	ADPGK, ARID3B +29 more	Deletion	Brugada syndrome 8	GUncertain significance
Select item 2574692	GRCh37/hg19 15q24.1-24.2(chr15:72943184-76085232)	ADPGK, ARID3B +48 more	Copy number loss	Chromosome 15q24 deletion syndrome	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 2427095	NC_000015.9:g.(?_72978569)_(75190071_?)dup	ADPGK, ARID3B +29 more	Duplication	Bardet-Biedl syndrome	GUncertain significance
Select item 1458323	NC_000015.9:g.(?_72103084)_(74244178_?)del	ADPGK, ARIH1 +19 more	Deletion	Tay-Sachs disease	GPathogenic
Select item 1353978	NC_000015.9:g.(?_72978569)_(75722716_?)del	ADPGK, ARID3B +41 more	Deletion	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 980531	GRCh37/hg19 15q23-24.1(chr15:70268937-74098081)x1	BBS4, NR2E3 +24 more	Copy number loss	not provided	GLikely pathogenic
Select item 815734	GRCh37/hg19 15q24.1-24.2(chr15:72943184-75567198)x1	ADPGK, ARID3B +37 more	Copy number loss	not provided	GPathogenic
Select item 688538	GRCh37/hg19 15q24.1-24.2(chr15:72943184-75544524)x1	ADPGK, ARID3B +36 more	Copy number loss	not provided	GPathogenic
Select item 687513	GRCh37/hg19 15q24.1-24.2(chr15:72963271-76064900)x3	ADPGK, ARID3B +47 more	Copy number gain	not provided	GPathogenic
Select item 687381	GRCh37/hg19 15q24.1-24.2(chr15:72926922-75544524)x1	ADPGK, ARID3B +36 more	Copy number loss	not provided	GPathogenic
Select item 564215	GRCh37/hg19 15q24.1-24.2(chr15:72943184-76072324)x1	ADPGK, ARID3B +48 more	Copy number loss	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 560117	Single allele	ADPGK, ARID3B +37 more	Deletion	not provided	GPathogenic
Select item 560049	Single allele	PDIA3, PEAK1 +521 more	Duplication	not provided	GPathogenic
Select item 443649	GRCh37/hg19 15q24.1-24.2(chr15:72943184-75567198)x1	ADPGK, ARID3B +37 more	Copy number loss	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 441056	GRCh37/hg19 15q24.1-24.2(chr15:72958539-76063285)x1	ADPGK, STOML1 +48 more	Copy number loss	not provided	Gnot provided
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 253605	GRCh37/hg19 15q24.1-24.2(chr15:72998989-76069787)x3	ADPGK, ARID3B +47 more	Copy number gain	See cases	GPathogenic
Select item 253560	GRCh37/hg19 15q24.1-24.2(chr15:72958539-75569605)x1	ADPGK, ARID3B +37 more	Copy number loss	See cases	GPathogenic
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: 90