ClinVar for Gene (Select 161753) - ClinVar

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Links from Gene

Items: 61

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3235360	NM_175881.5(CIMAP1C):c.584T>C (p.Val195Ala)	CIMAP1C (V195A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3235359	NM_175881.5(CIMAP1C):c.487A>T (p.Met163Leu)	CIMAP1C (M163L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3235358	NM_175881.5(CIMAP1C):c.41C>A (p.Ala14Glu)	CIMAP1C, LOC130057624 (A14E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3235357	NM_175881.5(CIMAP1C):c.416C>T (p.Pro139Leu)	CIMAP1C (P139L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3235356	NM_175881.5(CIMAP1C):c.287G>A (p.Arg96Gln)	CIMAP1C (R96Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3235355	NM_175881.5(CIMAP1C):c.242A>G (p.His81Arg)	CIMAP1C (H81R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3235354	NM_175881.5(CIMAP1C):c.196G>A (p.Ala66Thr)	CIMAP1C (A66T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3235353	NM_175881.5(CIMAP1C):c.175A>C (p.Ile59Leu)	CIMAP1C (I59L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3235352	NM_175881.5(CIMAP1C):c.104T>A (p.Met35Lys)	CIMAP1C (M35K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2685524	GRCh37/hg19 15q24.2(chr15:75601120-76081362)x1	CIMAP1C, COMMD4 +8 more	Copy number loss	not provided	GPathogenic
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 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 2493783	NM_175881.5(CIMAP1C):c.407G>A (p.Arg136His)	CIMAP1C (R136H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493178	NM_175881.5(CIMAP1C):c.676G>C (p.Ala226Pro)	CIMAP1C (A226P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482637	NM_175881.5(CIMAP1C):c.143G>A (p.Arg48Gln)	CIMAP1C (R48Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472775	NM_175881.5(CIMAP1C):c.467C>T (p.Pro156Leu)	CIMAP1C (P156L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472671	NM_175881.5(CIMAP1C):c.608C>T (p.Thr203Met)	CIMAP1C (T203M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2466427	NM_175881.5(CIMAP1C):c.671G>A (p.Arg224His)	CIMAP1C (R224H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2426847	NC_000015.9:g.(?_75628431)_(76054677_?)del	CIMAP1C, COMMD4 +8 more	Deletion	not provided	GUncertain significance
Select item 2412068	NM_175881.5(CIMAP1C):c.376T>A (p.Tyr126Asn)	CIMAP1C (Y126N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409437	NM_175881.5(CIMAP1C):c.199T>C (p.Tyr67His)	CIMAP1C (Y67H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366893	NM_175881.5(CIMAP1C):c.811G>A (p.Asp271Asn)	CIMAP1C (D271N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307697	NM_175881.5(CIMAP1C):c.785C>T (p.Ser262Leu)	CIMAP1C (S262L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277966	NM_175881.5(CIMAP1C):c.739G>A (p.Val247Met)	CIMAP1C (V247M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270103	NM_175881.5(CIMAP1C):c.310C>A (p.Gln104Lys)	CIMAP1C (Q104K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219611	NM_175881.5(CIMAP1C):c.816T>G (p.Ile272Met)	CIMAP1C (I272M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212339	NM_175881.5(CIMAP1C):c.635A>T (p.Tyr212Phe)	CIMAP1C (Y212F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207101	NM_175881.5(CIMAP1C):c.757C>T (p.Pro253Ser)	CIMAP1C (P253S)	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 1807727	GRCh37/hg19 15q24.2(chr15:75998699-76099099)x3	CSPG4, ODF3L1	Copy number gain	not provided	GUncertain significance
Select item 1703679	GRCh37/hg19 15q24.1-24.2(chr15:74398068-76054094)	ARID3B, C15orf39 +34 more	Copy number loss	Hearing impairment	GPathogenic
Select item 1024934	NC_000015.9:g.(?_32964879)_(91358519_?)dup	ARPIN-AP3S2, COMMD4 +472 more	Duplication	Familial colorectal cancer +1 more	GUncertain significance
Select item 997817	Single allele	CIMAP1C, COMMD4 +8 more	Deletion	Epilepsy +1 more	GPathogenic
Select item 980534	GRCh37/hg19 15q24.2-24.3(chr15:75920400-76632051)x3	TMEM266, CSPG4 +9 more	Copy number gain	not provided	GUncertain significance
Select item 980533	GRCh37/hg19 15q24.2(chr15:75440382-76133553)x3	SNX33, GOLGA6C +11 more	Copy number gain	not provided	GUncertain significance
Select item 980532	GRCh37/hg19 15q24.1-24.2(chr15:74398162-76054094)x1	ARID3B, C15orf39 +34 more	Copy number loss	not provided	GPathogenic
Select item 687789	GRCh37/hg19 15q24.2(chr15:75508057-76128091)x3	COMMD4, CSPG4 +10 more	Copy number gain	not provided	GUncertain significance
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 625749	GRCh37/hg19 15q24.2(chr15:75648132-76102251)	CSPG4, IMP3 +6 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 560141	Single allele	COMMD4, CSPG4 +8 more	Duplication	SIN3A-related intellectual disability syndrome due to a point mutation	GUncertain significance
Select item 560049	Single allele	AAGAB, ABHD17C +523 more	Duplication	not provided	GPathogenic
Select item 545183	Single allele	MIR6882, MPI +258 more	Duplication	Schizophrenia	GLikely pathogenic
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)	AAGAB, ABHD17C +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	CSK, CSNK1G1 +566 more	Copy number gain	See cases	GPathogenic
Select item 394887	GRCh37/hg19 15q15.1-26.3(chr15:41745084-102354798)x4	TRPM7, TSPAN3 +444 more	Copy number gain	See cases	GPathogenic
Select item 369835	GRCh37/hg19 15q22.1-26.3(chr15:59297293-102480888)x3	SLC24A1, SLC28A1 +310 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 253861	GRCh37/hg19 15q24.2(chr15:75562397-76030552)x3	COMMD4, SNUPN +10 more	Copy number gain	See cases	GUncertain significance
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 253516	GRCh37/hg19 15q22.31-26.3(chr15:64637227-102509910)x3	AAGAB, ABHD17C +279 more	Copy number gain	See cases	GPathogenic
Select item 154952	GRCh38/hg38 15q23-26.3(chr15:72154949-101920998)x3	ABHD17C, ABHD2 +1244 more	Copy number gain	See cases	GPathogenic
Select item 154848	GRCh38/hg38 15q22.2-26.3(chr15:59828460-101920998)x3	LOC130057806, LOC130057807 +1763 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 153074	GRCh38/hg38 15q24.1-24.2(chr15:72685231-75727625)x1	LOC130057567, LOC130057568 +243 more	Copy number loss	See cases	GPathogenic
Select item 59384	GRCh38/hg38 15q24.2(chr15:75596961-76049787)x1	CIMAP1C, CSPG4 +22 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 61