338949[Gene ID] - ClinVar

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Items: 46

	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 147526	GRCh38/hg38 15q23-24.1(chr15:72366869-72671688)x1	ARIH1, GOLGA6B +15 more	Copy number loss	See cases	GUncertain significance
Select item 3179121	NM_001080462.3(TMEM202):c.17A>C (p.His6Pro)	TMEM202 (H6P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3179123	NM_001080462.3(TMEM202):c.50C>T (p.Pro17Leu)	TMEM202 (P17L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2410521	NM_001080462.3(TMEM202):c.50C>A (p.Pro17His)	TMEM202 (P17H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2257232	NM_001080462.3(TMEM202):c.52A>C (p.Lys18Gln)	TMEM202 (K18Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2209796	NM_001080462.3(TMEM202):c.88G>A (p.Val30Ile)	TMEM202 (V30I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593721	NM_001080462.3(TMEM202):c.170G>A (p.Arg57Gln)	TMEM202 (R57Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337619	NM_001080462.3(TMEM202):c.173C>T (p.Thr58Met)	TMEM202 (T58M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2299712	NM_001080462.3(TMEM202):c.210G>A (p.Met70Ile)	TMEM202 (M70I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212565	NM_001080462.3(TMEM202):c.220A>G (p.Met74Val)	TMEM202 (M74V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3326929	NM_001080462.3(TMEM202):c.224C>G (p.Ser75Cys)	TMEM202 (S75C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225701	NM_001080462.3(TMEM202):c.325C>T (p.Pro109Ser)	TMEM202 (P109S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3326928	NM_001080462.3(TMEM202):c.368T>G (p.Leu123Arg)	TMEM202 (L123R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2358243	NM_001080462.3(TMEM202):c.422T>A (p.Ile141Asn)	TMEM202 (I141N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3179122	NM_001080462.3(TMEM202):c.476G>A (p.Ser159Asn)	TMEM202 (S159N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3326922	NM_001080462.3(TMEM202):c.508C>T (p.Leu170Phe)	TMEM202 (L170F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3326927	NM_001080462.3(TMEM202):c.523G>A (p.Ala175Thr)	TMEM202 (A175T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2369524	NM_001080462.3(TMEM202):c.544A>T (p.Arg182Trp)	TMEM202 (R182W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3326924	NM_001080462.3(TMEM202):c.574A>G (p.Thr192Ala)	TMEM202 (T192A)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3179124	NM_001080462.3(TMEM202):c.577T>C (p.Tyr193His)	TMEM202 (Y193H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2255725	NM_001080462.3(TMEM202):c.612G>A (p.Met204Ile)	TMEM202 (M204I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2219350	NM_001080462.3(TMEM202):c.640T>A (p.Tyr214Asn)	TMEM202 (Y214N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3326925	NM_001080462.3(TMEM202):c.653G>T (p.Arg218Ile)	TMEM202 (R218I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3326926	NM_001080462.3(TMEM202):c.676G>A (p.Val226Ile)	TMEM202 (V226I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3179125	NM_001080462.3(TMEM202):c.719C>T (p.Pro240Leu)	TMEM202, TMEM202-AS1 (P240L)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3179126	NM_001080462.3(TMEM202):c.791A>G (p.Lys264Arg)	TMEM202, TMEM202-AS1 (K264R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2685523	GRCh37/hg19 15q23-24.1(chr15:72592846-72826183)x1	ARIH1, CELF6 +2 more	Copy number loss	not provided	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 2423198	NC_000015.9:g.(?_72636418)_(73660611_?)dup	ADPGK, ARIH1 +6 more	Duplication	Tay-Sachs disease	GUncertain significance
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 831142	NC_000015.10:g.(?_72353681)_(73368280_?)dup	ADPGK, ARIH1 +6 more	Duplication	Brugada syndrome 8	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: 46