ERC1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 619591	NC_000012.12:g.(1_3750000)_(5250000_9000000)del	GAPDH, GAU1 +477 more	Deletion	Tumoral calcinosis, hyperphosphatemic, familial, 1	Gnot provided
Select item 146024	GRCh38/hg38 12p13.33-13.31(chr12:45740-6945196)x3	ACRBP, ADIPOR2 +348 more	Copy number gain	See cases	GPathogenic
Select item 152732	GRCh38/hg38 12p13.33-13.32(chr12:54427-3639603)x1	ADIPOR2, B4GALNT3 +142 more	Copy number loss	See cases	GPathogenic
Select item 152450	GRCh38/hg38 12p13.33-13.32(chr12:54427-4004912)x1	ADIPOR2, B4GALNT3 +147 more	Copy number loss	See cases	GPathogenic
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 147092	GRCh38/hg38 12p13.33(chr12:54452-2558097)x1	ADIPOR2, B4GALNT3 +101 more	Copy number loss	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 149561	GRCh38/hg38 12p13.33-13.32(chr12:80412-4420585)x1	ADIPOR2, B4GALNT3 +170 more	Copy number loss	See cases	GPathogenic
Select item 148625	GRCh38/hg38 12p13.33(chr12:80412-2850599)x1	ADIPOR2, B4GALNT3 +114 more	Copy number loss	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 58952	GRCh38/hg38 12p13.33(chr12:99592-1786491)x1	LOC130007161, LOC130007162 +80 more	Copy number loss	See cases	GPathogenic
Select item 154528	GRCh38/hg38 12p13.33(chr12:121255-3003320)x1	ADIPOR2, B4GALNT3 +123 more	Copy number loss	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 57044	GRCh38/hg38 12p13.33-13.32(chr12:121255-3968447)x1	ADIPOR2, B4GALNT3 +146 more	Copy number loss	See cases	GPathogenic
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	LOC130008916, LOC130008917 +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 147690	GRCh38/hg38 12p13.33-13.31(chr12:199896-5807366)x1	ADIPOR2, AKAP3 +218 more	Copy number loss	See cases	GPathogenic
Select item 59798	GRCh38/hg38 12p13.33-13.32(chr12:199896-3284963)x3	ADIPOR2, B4GALNT3 +126 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 155290	GRCh38/hg38 12p13.33-13.31(chr12:418421-6235914)x3	ADIPOR2, AKAP3 +223 more	Copy number gain	See cases	GPathogenic
Select item 149979	GRCh38/hg38 12p13.33(chr12:431903-1521472)x3	B4GALNT3, CCDC77 +40 more	Copy number gain	See cases	GUncertain significance
Select item 57155	GRCh38/hg38 12p13.33(chr12:832749-1632145)x3	ERC1, FBXL14 +30 more	Copy number gain	See cases	GUncertain significance
Select item 144782	GRCh38/hg38 12p13.33(chr12:902526-1279346)x3	ERC1, LOC124625877 +8 more	Copy number gain	See cases	GUncertain significance
Select item 148611	GRCh38/hg38 12p13.33(chr12:936769-1244917)x1	ERC1, LOC124625877 +4 more	Copy number loss	See cases	GUncertain significance
Select item 2521143	NM_178040.4(ERC1):c.17G>A (p.Arg6His)	ERC1 (R6H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3033364	NM_178040.4(ERC1):c.48G>C (p.Gln16His)	ERC1 (Q16H)	Single nucleotide variant (missense variant +1 more)	ERC1-related disorder	GBenign
Select item 3090091	NM_178040.4(ERC1):c.64C>T (p.Pro22Ser)	ERC1 (P22S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3090092	NM_178040.4(ERC1):c.85C>T (p.Arg29Cys)	ERC1 (R29C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2266184	NM_178040.4(ERC1):c.125C>T (p.Ser42Leu)	ERC1 (S42L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3037380	NM_178040.4(ERC1):c.148A>G (p.Ser50Gly)	ERC1 (S50G)	Single nucleotide variant (missense variant +1 more)	ERC1-related disorder	GBenign
Select item 3090088	NM_178040.4(ERC1):c.260G>T (p.Ser87Ile)	ERC1 (S87I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1335091	NM_178040.4(ERC1):c.297T>G (p.Pro99=)	ERC1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 3038730	NM_178040.4(ERC1):c.300C>T (p.Tyr100=)	ERC1	Single nucleotide variant (synonymous variant +1 more)	ERC1-related disorder	GLikely benign
Select item 3054082	NM_178040.4(ERC1):c.308G>C (p.Arg103Pro)	ERC1 (R103P)	Single nucleotide variant (missense variant +1 more)	ERC1-related disorder	GLikely benign
Select item 2270652	NM_178040.4(ERC1):c.323G>A (p.Gly108Asp)	ERC1 (G108D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2359170	NM_178040.4(ERC1):c.364A>G (p.Thr122Ala)	ERC1 (T122A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2478574	NM_178040.4(ERC1):c.520G>A (p.Val174Ile)	ERC1 (V174I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2353064	NM_178040.4(ERC1):c.547A>G (p.Met183Val)	ERC1 (M183V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2539960	NM_178040.4(ERC1):c.809T>A (p.Leu270His)	ERC1 (L270H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3047384	NM_178040.4(ERC1):c.1026C>T (p.His342=)	ERC1	Single nucleotide variant (synonymous variant +1 more)	ERC1-related disorder	GLikely benign
Select item 2558887	NM_178040.4(ERC1):c.1027G>A (p.Val343Ile)	ERC1 (V343I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3090081	NM_178040.4(ERC1):c.1097G>A (p.Arg366Gln)	ERC1 (R366Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2463931	NM_178040.4(ERC1):c.1102T>G (p.Phe368Val)	ERC1 (F368V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2256261	NM_178040.4(ERC1):c.1175C>G (p.Ser392Cys)	ERC1 (S392C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 776684	NM_178040.4(ERC1):c.1179T>A (p.Ser393=)	ERC1	Single nucleotide variant (synonymous variant +1 more)	ERC1-related disorder +1 more	GBenign
Select item 2208802	NM_178040.4(ERC1):c.1244G>A (p.Ser415Asn)	ERC1 (S415N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2239345	NM_178040.4(ERC1):c.1295A>G (p.His432Arg)	ERC1 (H432R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3043480	NM_178040.4(ERC1):c.1372A>G (p.Lys458Glu)	ERC1 (K458E)	Single nucleotide variant (missense variant +1 more)	ERC1-related disorder	GBenign
Select item 3051178	NM_178040.4(ERC1):c.1527C>T (p.Ser509=)	ERC1, LOC126861413	Single nucleotide variant (synonymous variant +1 more)	ERC1-related disorder	GBenign
Select item 2563438	NM_178040.4(ERC1):c.1542G>T (p.Glu514Asp)	ERC1, LOC126861413 (E514D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3090082	NM_178040.4(ERC1):c.1712G>A (p.Arg571Gln)	ERC1 (R571Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 151114	GRCh38/hg38 12p13.33(chr12:1160947-1364162)x1	ERC1, LOC129390385	Copy number loss	See cases	GUncertain significance
Select item 3053812	NM_178040.4(ERC1):c.1738-6A>C	ERC1	Single nucleotide variant (intron variant)	ERC1-related disorder	GLikely benign
Select item 2478822	NM_178040.4(ERC1):c.1767C>A (p.Asp589Glu)	ERC1 (D561E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2284218	NM_178040.4(ERC1):c.1784G>A (p.Ser595Asn)	ERC1 (S567N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2215226	NM_178040.4(ERC1):c.1880G>A (p.Arg627Gln)	ERC1 (R599Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3053450	NM_178040.4(ERC1):c.1885A>G (p.Ile629Val)	ERC1 (I601V +1 more)	Single nucleotide variant (missense variant +1 more)	ERC1-related disorder	GBenign
Select item 2533708	NM_178040.4(ERC1):c.1957G>A (p.Asp653Asn)	ERC1 (D653N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2268665	NM_178040.4(ERC1):c.1959T>A (p.Asp653Glu)	ERC1 (D625E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2621272	NM_178040.4(ERC1):c.1997G>A (p.Gly666Asp)	ERC1 (G666D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2293914	NM_178040.4(ERC1):c.2042A>G (p.His681Arg)	ERC1 (H653R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2311343	NM_178040.4(ERC1):c.2122G>C (p.Glu708Gln)	ERC1 (E680Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 3037882	NM_178040.4(ERC1):c.2158-4G>A	ERC1	Single nucleotide variant (intron variant)	ERC1-related disorder	GBenign
Select item 3090083	NM_178040.4(ERC1):c.2158G>A (p.Ala720Thr)	ERC1 (A692T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3045575	NM_178040.4(ERC1):c.2207G>A (p.Arg736Gln)	ERC1 (R708Q +1 more)	Single nucleotide variant (missense variant +1 more)	ERC1-related disorder	GLikely benign
Select item 2208750	NM_178040.4(ERC1):c.2278C>G (p.Arg760Gly)	ERC1 (R732G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3090084	NM_178040.4(ERC1):c.2302G>A (p.Val768Met)	ERC1 (V740M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2474263	NM_178040.4(ERC1):c.2365C>G (p.Gln789Glu)	ERC1 (Q789E +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2473221	NM_178040.4(ERC1):c.2417A>G (p.Lys806Arg)	ERC1 (K806R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3090085	NM_178040.4(ERC1):c.2441C>T (p.Ala814Val)	ERC1 (A790V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3090086	NM_178040.4(ERC1):c.2447G>A (p.Arg816Gln)	ERC1 (R816Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3090087	NM_178040.4(ERC1):c.2485C>A (p.Gln829Lys)	ERC1 (Q829K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 3090089	NM_178040.4(ERC1):c.2675A>C (p.Lys892Thr)	ERC1 (K868T +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2346214	NM_178040.4(ERC1):c.2803A>G (p.Ile935Val)	ERC1 (I907V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3057218	NM_178040.4(ERC1):c.2820C>T (p.Ala940=)	ERC1	Single nucleotide variant (synonymous variant +1 more)	ERC1-related disorder	GBenign
Select item 2320200	NM_178040.4(ERC1):c.2822A>G (p.Asn941Ser)	ERC1 (N913S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2489970	NM_178040.4(ERC1):c.2864A>T (p.Gln955Leu)	ERC1 (Q955L +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3090090	NM_178040.4(ERC1):c.2914C>T (p.Leu972Phe)	ERC1 (L948F +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 804463	NM_178040.4(ERC1):c.3037dup (p.Leu1013fs)	ERC1 (L1013fs +1 more)	Duplication (frameshift variant +1 more)	Macrocephaly, dysmorphic facies, and psychomotor retardation	GLikely pathogenic
Select item 2296340	NM_178040.4(ERC1):c.3080T>G (p.Ile1027Ser)	ERC1 (I1027S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3055629	NM_178040.4(ERC1):c.3094A>G (p.Thr1032Ala)	ERC1 (T1004A +1 more)	Single nucleotide variant (missense variant +1 more)	ERC1-related disorder	GBenign
Select item 2515346	NM_178040.4(ERC1):c.3163G>A (p.Asp1055Asn)	ERC1 (D1027N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 58206	GRCh38/hg38 12p13.33(chr12:1453550-2575642)x3	ADIPOR2, CACNA1C +49 more	Copy number gain	See cases	GUncertain significance
Select item 3060038	NM_178040.4(ERC1):c.3214-9246C>T	ERC1 (P1073L)	Single nucleotide variant (missense variant +1 more)	ERC1-related disorder	GBenign
Select item 3037448	NM_178040.4(ERC1):c.3214-9201G>T	ERC1	Single nucleotide variant (3 prime UTR variant +1 more)	ERC1-related disorder	GLikely benign
Select item 2642569	NM_178040.4(ERC1):c.3214-1G>A	ERC1	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 2283550	NM_178040.4(ERC1):c.3218A>C (p.Gln1073Pro)	ERC1 (Q1073P +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
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 3063234	GRCh37/hg19 12p13.33(chr12:1086096-1588778)x1	ERC1	Copy number loss	not specified	GUncertain significance
Select item 3024578	GRCh37/hg19 12p13.33(chr12:922808-2129821)x1	ADIPOR2, CACNA2D4 +7 more	Copy number loss	not provided	GLikely pathogenic
Select item 2685429	GRCh37/hg19 12p13.33-13.32(chr12:191243-5332596)x1	ADIPOR2, AKAP3 +40 more	Copy number loss	not provided	GPathogenic
Select item 2685428	GRCh37/hg19 12p13.33(chr12:173787-2431561)x1	ADIPOR2, B4GALNT3 +16 more	Copy number loss	not provided	GUncertain significance
Select item 2684663	GRCh37/hg19 12p13.33(chr12:332362-1590974)x3	B4GALNT3, CCDC77 +7 more	Copy number gain	not provided	GUncertain significance
Select item 2671607	Single allele	FGD4, FGF23 +278 more	Duplication	not provided	GPathogenic
Select item 2445417	GRCh37/hg19 12p13.33-11.1(chr12:176047-34179852)x4	AKAP3, ETFRF1 +278 more	Copy number gain	Pallister-Killian syndrome	GPathogenic
Select item 2427496	NC_000012.11:g.(?_862732)_(2800365_?)dup	ADIPOR2, LRTM2 +8 more	Duplication	not provided	GUncertain significance
Select item 1809216	GRCh37/hg19 12p13.33(chr12:817514-2205439)x1	ADIPOR2, CACNA1C +8 more	Copy number loss	not provided	GPathogenic
Select item 1808183	GRCh37/hg19 12p13.33(chr12:1037077-1487331)x3	ERC1, RAD52	Copy number gain	not provided	GUncertain significance

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