25505[HGNC] - ClinVar

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Items: 88

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 151004	GRCh38/hg38 12p13.33-11.1(chr12:54427-34608071)x4	TAS2R9, TEAD4 +1258 more	Copy number gain	See cases	GPathogenic
Select item 153962	GRCh38/hg38 12p13.33-11.1(chr12:64620-34682902)x4	CLEC12A, CLEC12A-AS1 +1258 more	Copy number gain	See cases	GPathogenic
Select item 59794	GRCh38/hg38 12p13.33-11.1(chr12:77187-34380176)x3	LOC126861410, LOC126861411 +1258 more	Copy number gain	See cases	GPathogenic
Select item 59795	GRCh38/hg38 12p13.33-12.1(chr12:80412-25470329)x3	A2M, A2M-AS1 +1009 more	Copy number gain	See cases	GPathogenic
Select item 147419	GRCh38/hg38 12p13.33-11.1(chr12:121255-34603274)x3	LOC130007230, LOC130007231 +1257 more	Copy number gain	See cases	GPathogenic
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	ACAD10, ACADS +4836 more	Copy number gain	See cases	GPathogenic
Select item 150158	GRCh38/hg38 12p13.33-11.1(chr12:121271-34603261)x3	LOC126861494, LOC126861495 +1257 more	Copy number gain	See cases	GPathogenic
Select item 59799	GRCh38/hg38 12p13.33-11.1(chr12:212976-33926913)x4	CACNA1C-AS2, CACNA1C-AS4 +1242 more	Copy number gain	See cases	GPathogenic
Select item 153563	GRCh38/hg38 12p13.33-12.2(chr12:1258274-20657577)x3	A2M, A2M-AS1 +853 more	Copy number gain	See cases	GPathogenic
Select item 148626	GRCh38/hg38 12p13.33-12.3(chr12:2871741-14987348)x3	LOC130007190, LOC130007191 +698 more	Copy number gain	See cases	GPathogenic
Select item 154815	GRCh38/hg38 12p13.2-12.3(chr12:11121039-15908154)x1	APOLD1, ARHGDIB +238 more	Copy number loss	See cases	GLikely pathogenic
Select item 57166	GRCh38/hg38 12p13.2-13.1(chr12:11771233-13547775)x1	APOLD1, BCL2L14 +121 more	Copy number loss	See cases	GPathogenic
Select item 2665013	GRCh38/hg38 12p13.2-13.1(chr12:12003929-12652405)	DUSP16, LOC124625907 +54 more	Copy number gain	not provided	GUncertain significance
Select item 2372925	NM_018050.4(MANSC1):c.1247G>A (p.Arg416His)	MANSC1 (R382H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396113	NM_018050.4(MANSC1):c.1162G>A (p.Gly388Arg)	MANSC1 (G354R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122607	NM_018050.4(MANSC1):c.1118C>T (p.Pro373Leu)	MANSC1 (P339L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328956	NM_018050.4(MANSC1):c.1094G>T (p.Gly365Val)	MANSC1 (G331V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327926	NM_018050.4(MANSC1):c.1083G>T (p.Glu361Asp)	MANSC1 (E327D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327925	NM_018050.4(MANSC1):c.1082A>C (p.Glu361Ala)	MANSC1 (E361A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364106	NM_018050.4(MANSC1):c.1064C>T (p.Ala355Val)	MANSC1 (A321V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557509	NM_018050.4(MANSC1):c.1049C>G (p.Thr350Ser)	MANSC1 (T350S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3292880	NM_018050.4(MANSC1):c.1041G>C (p.Glu347Asp)	MANSC1 (E313D +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2595859	NM_018050.4(MANSC1):c.975C>G (p.Ile325Met)	MANSC1 (I291M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557337	NM_018050.4(MANSC1):c.962C>T (p.Pro321Leu)	MANSC1 (P287L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469261	NM_018050.4(MANSC1):c.959T>C (p.Ile320Thr)	MANSC1 (I286T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592095	NM_018050.4(MANSC1):c.934G>T (p.Asp312Tyr)	MANSC1 (D278Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389558	NM_018050.4(MANSC1):c.932C>T (p.Thr311Met)	MANSC1 (T277M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277600	NM_018050.4(MANSC1):c.928C>G (p.Pro310Ala)	MANSC1 (P276A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385724	NM_018050.4(MANSC1):c.880C>T (p.Leu294Phe)	MANSC1 (L294F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3292879	NM_018050.4(MANSC1):c.865C>T (p.Arg289Trp)	MANSC1 (R289W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122616	NM_018050.4(MANSC1):c.842C>G (p.Thr281Ser)	MANSC1 (T247S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122615	NM_018050.4(MANSC1):c.839C>T (p.Thr280Met)	MANSC1 (T280M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359617	NM_018050.4(MANSC1):c.838A>T (p.Thr280Ser)	MANSC1 (T280S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208035	NM_018050.4(MANSC1):c.809C>T (p.Pro270Leu)	MANSC1 (P270L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122614	NM_018050.4(MANSC1):c.808C>T (p.Pro270Ser)	MANSC1 (P270S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122613	NM_018050.4(MANSC1):c.748A>C (p.Thr250Pro)	MANSC1 (T250P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2397395	NM_018050.4(MANSC1):c.729G>T (p.Lys243Asn)	MANSC1 (K243N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332861	NM_018050.4(MANSC1):c.704C>T (p.Pro235Leu)	MANSC1 (P235L +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3122612	NM_018050.4(MANSC1):c.674C>T (p.Ala225Val)	MANSC1 (A191V +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2324158	NM_018050.4(MANSC1):c.634G>A (p.Asp212Asn)	MANSC1 (D212N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597756	NM_018050.4(MANSC1):c.617G>A (p.Ser206Asn)	MANSC1 (S206N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392714	NM_018050.4(MANSC1):c.576T>G (p.Ser192Arg)	MANSC1 (S158R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314337	NM_018050.4(MANSC1):c.564G>T (p.Met188Ile)	MANSC1 (M188I +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2620973	NM_018050.4(MANSC1):c.556T>C (p.Phe186Leu)	MANSC1 (F186L +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2402274	NM_018050.4(MANSC1):c.509A>C (p.Asp170Ala)	MANSC1 (D170A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488050	NM_018050.4(MANSC1):c.502T>C (p.Trp168Arg)	MANSC1 (W134R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2642736	NM_018050.4(MANSC1):c.492C>T (p.Thr164=)	MANSC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3122611	NM_018050.4(MANSC1):c.478T>A (p.Tyr160Asn)	MANSC1 (Y160N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122610	NM_018050.4(MANSC1):c.455C>T (p.Pro152Leu)	MANSC1 (P118L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122609	NM_018050.4(MANSC1):c.448G>A (p.Val150Ile)	MANSC1 (V116I +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2347616	NM_018050.4(MANSC1):c.345G>A (p.Met115Ile)	MANSC1 (M115I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375327	NM_018050.4(MANSC1):c.253G>A (p.Asp85Asn)	MANSC1 (D51N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122608	NM_018050.4(MANSC1):c.235T>G (p.Cys79Gly)	MANSC1 (C45G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244116	NM_018050.4(MANSC1):c.215A>G (p.Asn72Ser)	MANSC1 (N38S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523676	NM_018050.4(MANSC1):c.211A>C (p.Lys71Gln)	MANSC1 (K37Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468266	NM_018050.4(MANSC1):c.131C>T (p.Ser44Phe)	MANSC1 (S44F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 729180	NM_018050.4(MANSC1):c.129A>G (p.Ser43=)	MANSC1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3063250	GRCh37/hg19 12p13.33-11.1(chr12:173786-34835641)x3	A2M, A2ML1 +278 more	Copy number gain	not specified	GPathogenic
Select item 2671607	Single allele	FGD4, FGF23 +278 more	Duplication	not provided	GPathogenic
Select item 2506545	GRCh37/hg19 12p13.2-13.1(chr12:11463270-14019142)	APOLD1, BCL2L14 +19 more	Copy number loss	Intellectual disability	GPathogenic
Select item 2445417	GRCh37/hg19 12p13.33-11.1(chr12:176047-34179852)x4	DENND5B, DERA +278 more	Copy number gain	Pallister-Killian syndrome	GPathogenic
Select item 1711362	GRCh37/hg19 12p13.2-12.1(chr12:10853887-24103810)x1	PTPRO, PYROXD1 +85 more	Copy number loss	not provided	GPathogenic
Select item 1527672	GRCh37/hg19 12p13.33-q11(chr12:173786-37869301)	C3AR1, CACNA1C +278 more	Copy number gain	not specified	GPathogenic
Select item 1527671	GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)	A2M, A2ML1 +278 more	Copy number gain	not specified	GPathogenic
Select item 1527669	GRCh37/hg19 12p13.33-12.1(chr12:173786-25286865)	A2ML1, ABCC9 +235 more	Copy number gain	not specified	GPathogenic
Select item 1436741	NC_000012.11:g.(?_11803062)_(15835885_?)dup	APOLD1, ARHGDIB +32 more	Duplication	Developmental and epileptic encephalopathy, 27 +1 more	GUncertain significance
Select item 1340617	GRCh37/hg19 12p13.2(chr12:12315219-12520934)x3	BORCS5, LRP6 +1 more	Copy number gain	not provided	GUncertain significance
Select item 815506	GRCh37/hg19 12p13.2(chr12:12315218-12520905)x3	BORCS5, LRP6 +1 more	Copy number gain	not provided	GUncertain significance
Select item 815505	GRCh37/hg19 12p13.2-12.3(chr12:11737824-16780886)x1	APOLD1, ARHGDIB +37 more	Copy number loss	not provided	GPathogenic
Select item 815493	GRCh37/hg19 12p13.33-q11(chr12:274676-37869301)x4	ART4, DYRK4 +278 more	Copy number gain	not provided	GPathogenic
Select item 686501	GRCh37/hg19 12p13.33-11.1(chr12:173786-34496628)x3	CLEC1B, CLEC2A +278 more	Copy number gain	not provided	GPathogenic
Select item 625809	GRCh37/hg19 12p13.33-12.3(chr12:189216-15001420)	A2M, A2ML1 +193 more	Copy number gain	not provided	GPathogenic
Select item 625596	GRCh37/hg19 12p13.2-13.1(chr12:10336209-13535349)	APOLD1, BCL2L14 +47 more	Copy number loss	Multiple endocrine neoplasia type 4	GPathogenic
Select item 563991	GRCh37/hg19 12p13.33-q11(chr12:173786-37869107)x3	A2M, A2ML1 +278 more	Copy number gain	not provided	GPathogenic
Select item 563990	GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)x3	A2M, A2ML1 +278 more	Copy number gain	not provided	GPathogenic
Select item 563989	GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)x2,3	A2M, A2ML1 +278 more	Copy number gain	not provided	GPathogenic
Select item 563981	GRCh37/hg19 12p13.2-13.1(chr12:10717428-14032860)x1	APOLD1, BCL2L14 +40 more	Copy number loss	not provided	GPathogenic
Select item 443532	GRCh37/hg19 12p13.33-11.22(chr12:173786-28219229)x3	A2M, A2ML1 +256 more	Copy number gain	See cases	GPathogenic
Select item 442150	GRCh37/hg19 12p13.33-11.1(chr12:565369-34835837)x3	KCNA6, KCNJ8 +273 more	Copy number gain	See cases	GLikely pathogenic
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	SLC15A5, SLC16A7 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 395673	GRCh37/hg19 12p13.33-11.1(chr12:189578-34756150)	A2M, A2ML1 +278 more	Copy number gain	See cases	GPathogenic
Select item 395028	GRCh37/hg19 12p13.2(chr12:12482956-12514722)x1	BORCS5, MANSC1	Copy number loss	See cases	GUncertain significance
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	GALNT8, H2AJ +1007 more	Copy number gain	See cases	GPathogenic
Select item 253582	GRCh37/hg19 12p13.33-11.1(chr12:148034-34178799)x4	ACSM4, CCND2 +278 more	Copy number gain	See cases	GPathogenic
Select item 253493	GRCh37/hg19 12p13.33-11.1(chr12:89061-34178799)x3	A2M, A2ML1 +278 more	Copy number gain	See cases	GPathogenic
Select item 221389	GRCh37/hg19 12p13.2-13.1(chr12:12419642-13256423)x3	APOLD1, BORCS5 +12 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance
Select item 221369	chr12:10074776-18800953 complex variant	APOLD1, ARHGDIB +79 more	Complex	Breast ductal adenocarcinoma	GUncertain significance

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Items: 88