ClinVar for Gene (Select 51458) - ClinVar

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Links from Gene

Items: 77

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3314202	NM_016321.3(RHCG):c.944T>C (p.Ile315Thr)	RHCG (I315T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3314201	NM_016321.3(RHCG):c.127G>C (p.Glu43Gln)	RHCG (E43Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3314200	NM_016321.3(RHCG):c.1076C>T (p.Ala359Val)	RHCG (A359V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3314199	NM_016321.3(RHCG):c.1430T>G (p.Leu477Trp)	RHCG (L477W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3243685	NC_000015.9:g.(?_89379429)_(91312836_?)del	ABHD2, ACAN +29 more	Deletion	D-2-hydroxyglutaric aciduria 2 +1 more	GConflicting classifications of pathogenicity
Select item 3154037	NM_016321.3(RHCG):c.991C>T (p.Arg331Trp)	RHCG (R331W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154036	NM_016321.3(RHCG):c.928G>A (p.Gly310Ser)	RHCG (G310S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3154035	NM_016321.3(RHCG):c.859C>T (p.Leu287Phe)	RHCG (L287F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3154034	NM_016321.3(RHCG):c.781G>A (p.Val261Met)	RHCG (V261M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3154033	NM_016321.3(RHCG):c.738G>C (p.Gln246His)	RHCG (Q246H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3154032	NM_016321.3(RHCG):c.487G>A (p.Ala163Thr)	RHCG (A163T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3154031	NM_016321.3(RHCG):c.346C>T (p.Arg116Cys)	RHCG (R116C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3154030	NM_016321.3(RHCG):c.259A>T (p.Ser87Cys)	RHCG (S87C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3154028	NM_016321.3(RHCG):c.121T>C (p.Trp41Arg)	RHCG (W41R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2685530	GRCh37/hg19 15q26.1(chr15:89976407-90387346)x1	PLIN1, TICRR +10 more	Copy number loss	not provided	GUncertain significance
Select item 2685529	GRCh37/hg19 15q26.1(chr15:89587464-90219354)x1	ABHD2, FANCI +8 more	Copy number loss	not provided	GUncertain significance
Select item 2590665	NM_016321.3(RHCG):c.1265G>T (p.Gly422Val)	RHCG (G422V)	Single nucleotide variant (missense variant +1 more)	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 2552911	NM_016321.3(RHCG):c.1183A>G (p.Ile395Val)	RHCG (I395V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2546780	NM_016321.3(RHCG):c.37C>T (p.Leu13Phe)	RHCG (L13F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2524114	NM_016321.3(RHCG):c.605G>A (p.Arg202His)	RHCG (R202H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2498631	GRCh37/hg19 15q25.2-26.3(chr15:84228005-102264590)x3	ABHD2, ACAN +86 more	Copy number gain	not provided	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 2482804	NM_016321.3(RHCG):c.191A>G (p.Gln64Arg)	RHCG (Q64R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2462038	NM_016321.3(RHCG):c.1421C>T (p.Ser474Leu)	RHCG (S474L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2456217	NM_016321.3(RHCG):c.89T>C (p.Val30Ala)	RHCG (V30A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2422891	NC_000015.9:g.(?_89379429)_(91565479_?)dup	ABHD2, ACAN +37 more	Duplication	D-2-hydroxyglutaric aciduria 2	GUncertain significance
Select item 2408625	NM_016321.3(RHCG):c.1355C>T (p.Thr452Ile)	RHCG (T452I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2405140	NM_016321.3(RHCG):c.583G>A (p.Val195Met)	RHCG (V195M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2398263	NM_016321.3(RHCG):c.877G>T (p.Val293Leu)	RHCG (V293L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2388155	NM_016321.3(RHCG):c.946A>G (p.Ile316Val)	RHCG (I316V)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2363760	NM_016321.3(RHCG):c.1147G>A (p.Gly383Arg)	RHCG (G383R)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2363370	NM_016321.3(RHCG):c.940G>A (p.Gly314Ser)	RHCG (G314S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2345852	NM_016321.3(RHCG):c.1138G>A (p.Gly380Ser)	RHCG (G380S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2333041	NM_016321.3(RHCG):c.607A>C (p.Asn203His)	RHCG (N203H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2291350	NM_016321.3(RHCG):c.1255C>T (p.Pro419Ser)	RHCG (P419S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2284636	NM_016321.3(RHCG):c.1326C>G (p.Asn442Lys)	RHCG (N442K)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2260628	NM_016321.3(RHCG):c.142A>G (p.Asn48Asp)	RHCG (N48D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2244251	NM_016321.3(RHCG):c.1039C>T (p.Pro347Ser)	RHCG (P347S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236677	NM_016321.3(RHCG):c.220T>C (p.Phe74Leu)	RHCG (F74L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2212479	NM_016321.3(RHCG):c.173A>G (p.Tyr58Cys)	RHCG (Y58C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2211711	NM_016321.3(RHCG):c.274A>G (p.Asn92Asp)	RHCG (N92D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2210661	NM_016321.3(RHCG):c.14C>T (p.Thr5Ile)	RHCG (T5I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2208950	NM_016321.3(RHCG):c.887C>T (p.Ala296Val)	RHCG (A296V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2206703	NM_016321.3(RHCG):c.1012T>G (p.Cys338Gly)	RHCG (C338G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 1448361	NC_000015.9:g.(?_89859982)_(90294462_?)dup	FANCI, KIF7 +9 more	Duplication	not provided	GUncertain significance
Select item 1340806	GRCh37/hg19 15q26.1(chr15:89520451-93926491)x1	ABHD2, ANPEP +41 more	Copy number loss	not provided	GPathogenic
Select item 1328111	GRCh37/hg19 15q25.3-26.2(chr15:88465861-94411846)x1	ABHD2, ACAN +50 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 983158	GRCh37/hg19 15q25.3-26.3(chr15:86962053-102531392)x1	ABHD2, ACAN +77 more	Copy number loss	See cases	GPathogenic
Select item 815743	GRCh37/hg19 15q25.3-26.3(chr15:87189245-102429112)x1	ABHD2, ACAN +76 more	Copy number loss	not provided	GPathogenic
Select item 625751	GRCh37/hg19 15q25.2-26.1(chr15:83883823-92165844)	ABHD2, ACAN +58 more	Copy number loss	not provided	GPathogenic
Select item 564229	GRCh37/hg19 15q26.1-26.3(chr15:89743929-102429112)x3	ABHD2, ADAMTS17 +66 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 443650	GRCh37/hg19 15q25.3-26.3(chr15:86899001-98734014)x3	ABHD2, ACAN +55 more	Copy number gain	See cases	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 395560	GRCh37/hg19 15q25.3-26.3(chr15:86148286-102511616)x3	ABHD2, ACAN +79 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 394871	GRCh37/hg19 15q25.2-26.3(chr15:85089467-102495441)x3	ABHD2, ACAN +87 more	Copy number gain	See cases	GPathogenic
Select item 393972	GRCh37/hg19 15q25.3-26.1(chr15:88295992-94215607)x1	FANCI, FES +50 more	Copy number loss	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
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 154660	GRCh38/hg38 15q26.1-26.3(chr15:88676575-98364743)x3	LOC130057929, LOC130057930 +311 more	Copy number gain	See cases	GPathogenic
Select item 153554	GRCh38/hg38 15q25.3-26.3(chr15:85397539-101888909)x3	ABHD2, ACAN +552 more	Copy number gain	See cases	GPathogenic
Select item 148189	GRCh38/hg38 15q25.3-26.3(chr15:85826665-101920998)x4	MIR11181, MIR1179 +517 more	Copy number gain	See cases	GPathogenic
Select item 147691	GRCh38/hg38 15q25.2-26.3(chr15:82859676-101810992)x3	LOC130057943, LOC130057944 +664 more	Copy number gain	See cases	GPathogenic
Select item 146595	GRCh38/hg38 15q25.2-26.3(chr15:83711377-101843270)x3	LOC130057907, LOC130057908 +630 more	Copy number gain	See cases	GPathogenic
Select item 146259	GRCh38/hg38 15q25.3-26.3(chr15:87904735-101843270)x3	LOC130057997, LOC130057998 +500 more	Copy number gain	See cases	GPathogenic
Select item 58580	GRCh38/hg38 15q25.2-26.3(chr15:84169153-101904929)x3	ABHD2, ACAN +611 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 77