ClinVar for Gene (Select 5955) - ClinVar

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Links from Gene

Items: 40

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3313429	NM_002902.3(RCN2):c.470G>A (p.Arg157Gln)	RCN2 (R175Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3313428	NM_002902.3(RCN2):c.140T>C (p.Val47Ala)	LOC130057648, RCN2 (V47A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3243780	NC_000015.9:g.(?_74219125)_(77329517_?)del	ARID3B, C15orf39 +47 more	Deletion	Pyogenic arthritis-pyoderma gangrenosum-acne syndrome	GUncertain significance
Select item 3152733	NM_002902.3(RCN2):c.875C>T (p.Pro292Leu)	RCN2 (P292L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152732	NM_002902.3(RCN2):c.526G>A (p.Ala176Thr)	RCN2 (A176T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152731	NM_002902.3(RCN2):c.386G>A (p.Arg129His)	RCN2 (R129H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152730	NM_002902.3(RCN2):c.31G>T (p.Gly11Trp)	LOC130057648, RCN2 (G11W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152729	NM_002902.3(RCN2):c.295A>G (p.Met99Val)	RCN2 (M99V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152728	NM_002902.3(RCN2):c.14C>T (p.Pro5Leu)	LOC130057648, RCN2 (P5L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2645587	NM_002902.3(RCN2):c.804G>A (p.Ala268=)	RCN2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2611772	NM_002902.3(RCN2):c.256C>T (p.Leu86Phe)	RCN2 (L86F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599878	NM_002902.3(RCN2):c.172G>A (p.Gly58Ser)	RCN2 (G58S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591614	NM_002902.3(RCN2):c.109A>G (p.Ser37Gly)	LOC130057648, RCN2 (S37G)	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 2537761	NM_002902.3(RCN2):c.661G>T (p.Ala221Ser)	RCN2 (A221S +1 more)	Single nucleotide variant (missense variant)	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 2407484	NM_002902.3(RCN2):c.452A>G (p.His151Arg)	RCN2 (H169R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329700	NM_002902.3(RCN2):c.794A>T (p.Gln265Leu)	RCN2 (Q265L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295637	NM_002902.3(RCN2):c.899C>T (p.Ala300Val)	RCN2 (A300V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287088	NM_002902.3(RCN2):c.670G>T (p.Asp224Tyr)	RCN2 (D224Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280817	NM_002902.3(RCN2):c.273G>T (p.Gln91His)	RCN2 (Q91H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238665	NM_002902.3(RCN2):c.937T>C (p.Tyr313His)	RCN2 (Y313H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 564220	GRCh37/hg19 15q24.3(chr15:77202427-77279162)x1	RCN2	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 545183	Single allele	MIR6882, MPI +258 more	Duplication	Schizophrenia	GLikely pathogenic
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
Select item 154952	GRCh38/hg38 15q23-26.3(chr15:72154949-101920998)x3	LOC116268473, LOC116268474 +1244 more	Copy number gain	See cases	GPathogenic
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 147979	GRCh38/hg38 15q24.2-25.1(chr15:76006154-79982417)x1	LOC130057730, LOC132090332 +175 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 40