ANKRD34C[gene] - ClinVar

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Items: 50

	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 154952	GRCh38/hg38 15q23-26.3(chr15:72154949-101920998)x3	LOC116268473, LOC116268474 +1244 more	Copy number gain	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
Select item 2314257	NM_001146341.2(ANKRD34C):c.4A>G (p.Met2Val)	ANKRD34C (M2V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246698	NM_001146341.2(ANKRD34C):c.13G>C (p.Asp5His)	ANKRD34C (D5H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126035	NM_001146341.2(ANKRD34C):c.278G>C (p.Cys93Ser)	ANKRD34C (C93S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345130	NM_001146341.2(ANKRD34C):c.286A>G (p.Arg96Gly)	ANKRD34C (R96G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126045	NM_001146341.2(ANKRD34C):c.487A>G (p.Thr163Ala)	ANKRD34C (T163A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277550	NM_001146341.2(ANKRD34C):c.536G>A (p.Arg179Lys)	ANKRD34C (R179K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315360	NM_001146341.2(ANKRD34C):c.572T>C (p.Ile191Thr)	ANKRD34C (I191T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126058	NM_001146341.2(ANKRD34C):c.595G>A (p.Asp199Asn)	ANKRD34C (D199N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278273	NM_001146341.2(ANKRD34C):c.623A>G (p.Asp208Gly)	ANKRD34C (D208G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323330	NM_001146341.2(ANKRD34C):c.715C>T (p.Leu239Phe)	ANKRD34C (L239F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304461	NM_001146341.2(ANKRD34C):c.776C>T (p.Ala259Val)	ANKRD34C (A259V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551824	NM_001146341.2(ANKRD34C):c.803G>T (p.Arg268Leu)	ANKRD34C (R268L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126073	NM_001146341.2(ANKRD34C):c.851G>A (p.Ser284Asn)	ANKRD34C (S284N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3297514	NM_001146341.2(ANKRD34C):c.877A>T (p.Arg293Trp)	ANKRD34C (R293W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308458	NM_001146341.2(ANKRD34C):c.890C>G (p.Ser297Cys)	ANKRD34C (S297C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466023	NM_001146341.2(ANKRD34C):c.900C>G (p.Asn300Lys)	ANKRD34C (N300K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345196	NM_001146341.2(ANKRD34C):c.1111T>C (p.Ser371Pro)	ANKRD34C (S371P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125975	NM_001146341.2(ANKRD34C):c.1115T>A (p.Leu372His)	ANKRD34C (L372H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125979	NM_001146341.2(ANKRD34C):c.1139A>G (p.Tyr380Cys)	ANKRD34C (Y380C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381582	NM_001146341.2(ANKRD34C):c.1141G>C (p.Asp381His)	ANKRD34C (D381H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125984	NM_001146341.2(ANKRD34C):c.1152A>G (p.Ile384Met)	ANKRD34C (I384M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125986	NM_001146341.2(ANKRD34C):c.1157C>T (p.Pro386Leu)	ANKRD34C (P386L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402222	NM_001146341.2(ANKRD34C):c.1180A>T (p.Ile394Phe)	ANKRD34C (I394F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349853	NM_001146341.2(ANKRD34C):c.1313C>T (p.Pro438Leu)	ANKRD34C (P438L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125996	NM_001146341.2(ANKRD34C):c.1399A>C (p.Asn467His)	ANKRD34C (N467H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2620210	NM_001146341.2(ANKRD34C):c.1408C>A (p.Leu470Met)	ANKRD34C (L470M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455293	NM_001146341.2(ANKRD34C):c.1415C>T (p.Pro472Leu)	ANKRD34C (P472L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353185	NM_001146341.2(ANKRD34C):c.1465A>G (p.Ser489Gly)	ANKRD34C (S489G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509007	NM_001146341.2(ANKRD34C):c.1480A>G (p.Met494Val)	ANKRD34C (M494V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304182	NM_001146341.2(ANKRD34C):c.1483G>A (p.Val495Ile)	ANKRD34C (V495I)	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 2498630	GRCh37/hg19 15q22.33-26.1(chr15:67358491-91644328)x3	AAGAB, ABHD17C +209 more	Copy number gain	not provided	GPathogenic
Select item 2425995	NC_000015.9:g.(?_78857986)_(81282132_?)dup	ABHD17C, ADAMTS7 +19 more	Duplication	not provided	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 1024934	NC_000015.9:g.(?_32964879)_(91358519_?)dup	CGNL1, MAPDA +472 more	Duplication	Familial colorectal cancer +1 more	GUncertain significance
Select item 686584	GRCh37/hg19 15q25.1(chr15:79239511-79874885)x3	ANKRD34C, MINAR1 +3 more	Copy number gain	not provided	GUncertain significance
Select item 564223	GRCh37/hg19 15q25.1-25.3(chr15:79023343-87158823)x1,2	ABHD17C, ADAMTS7 +49 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 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 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: 50