C12orf57[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 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 58985	GRCh38/hg38 12p13.31(chr12:6728665-7705620)x1	LOC130007275, LOC130007276 +97 more	Copy number loss	See cases	GPathogenic
Select item 3353671	NM_001301836.2(C12orf57):c.9_12del (p.Asp3fs)	C12orf57 (D3fs)	Deletion (5 prime UTR variant +1 more)	C12orf57-related disorder	GUncertain significance
Select item 3048801	NM_001301836.2(C12orf57):c.13+1G>A	C12orf57	Single nucleotide variant (splice donor variant)	C12orf57-related disorder	GUncertain significance
Select item 1301045	NM_001301834.1(C12orf57):c.-16+70G>A	C12orf57	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1300798	NM_001301834.1(C12orf57):c.-16+82dup	C12orf57	Duplication (intron variant)	not provided	GLikely benign
Select item 1300741	NM_001301834.1(C12orf57):c.-16+83G>T	C12orf57	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1266944	NM_001301834.1(C12orf57):c.-16+149C>T	C12orf57	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1300813	NM_001301834.1(C12orf57):c.-16+151C>T	C12orf57	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1247634	NM_001301834.1(C12orf57):c.-16+153G>A	C12orf57	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3380084	NR_023317.1(RNU7-1):n.1C>T	C12orf57, RNU7-1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 3380085	NR_023317.1(RNU7-1):n.12C>T	C12orf57, RNU7-1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1810412	NR_023317.1(RNU7-1):n.23T>G	C12orf57, RNU7-1	Single nucleotide variant (non-coding transcript variant +1 more)	Aicardi-Goutieres syndrome 9	GUncertain significance
Select item 1328141	NM_138425.3(C12orf57):c.-279C>G	C12orf57, RNU7-1	Single nucleotide variant (non-coding transcript variant +1 more)	Aicardi-Goutieres syndrome 9 +1 more	GLikely pathogenic
Select item 1202611	NR_023317.1(RNU7-1):n.28C>T	RNU7-1, C12orf57	Single nucleotide variant (non-coding transcript variant +1 more)	Aicardi-Goutieres syndrome 9 +1 more	GPathogenic/Likely pathogenic
Select item 1328524	NR_023317.1(RNU7-1):n.30A>G	RNU7-1, C12orf57	Single nucleotide variant (non-coding transcript variant +1 more)	Aicardi-Goutieres syndrome 9	GLikely pathogenic
Select item 1711335	NR_023317.1(RNU7-1):n.31G>C	C12orf57, RNU7-1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1202612	NM_138425.3(C12orf57):c.-267_-260delCTGGCTTT	C12orf57, RNU7-1	Deletion (non-coding transcript variant +1 more)	not provided	GLikely pathogenic
Select item 1202615	NR_023317.1(RNU7-1):n.35G>A	C12orf57, RNU7-1	Single nucleotide variant (non-coding transcript variant +1 more)	Aicardi-Goutieres syndrome 9	GPathogenic
Select item 1301230	NM_138425.3(C12orf57):c.-271C>T	C12orf57, RNU7-1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign/Likely benign
Select item 1711336	NR_023317.1(RNU7-1):n.37T>G	RNU7-1, C12orf57	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2578675	NR_023317.1(RNU7-1):n.41T>C	C12orf57, RNU7-1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1202614	NR_023317.1(RNU7-1):n.41T>G	C12orf57, RNU7-1	Single nucleotide variant (non-coding transcript variant +1 more)	Aicardi-Goutieres syndrome 9	GPathogenic
Select item 3380087	NR_023317.1(RNU7-1):n.44C>G	C12orf57, RNU7-1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 3380086	NR_023317.1(RNU7-1):n.44_45delinsTA	C12orf57, RNU7-1	Indel (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1181108	NM_138425.3(C12orf57):c.-263C>T	C12orf57, RNU7-1	Single nucleotide variant (non-coding transcript variant +1 more)	not specified +1 more	GBenign
Select item 1234510	NM_138425.3(C12orf57):c.-259T>C	C12orf57, RNU7-1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 3024660	NR_023317.1(RNU7-1):n.49T>C	RNU7-1, C12orf57	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1202613	NR_023317.1(RNU7-1):n.51C>T	C12orf57, RNU7-1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 1301050	NM_138425.3(C12orf57):c.-255C>T	C12orf57, RNU7-1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 3340974	NM_138425.3(C12orf57):c.-253G>A	C12orf57, RNU7-1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 3380088	NR_023317.1(RNU7-1):n.58G>A	C12orf57, RNU7-1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1301145	NM_138425.3(C12orf57):c.-247C>T	C12orf57, RNU7-1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1314938	NM_138425.3(C12orf57):c.-241T>C	C12orf57	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1300829	NM_138425.3(C12orf57):c.-227C>T	C12orf57	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1314939	NM_138425.3(C12orf57):c.-226C>T	C12orf57	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1273736	NM_138425.3(C12orf57):c.-200A>G	C12orf57	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1300873	NM_138425.3(C12orf57):c.-194A>G	C12orf57	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1342103	NM_138425.3(C12orf57):c.-191G>A	C12orf57	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1275293	NM_138425.3(C12orf57):c.-189T>C	C12orf57	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1300409	NM_138425.3(C12orf57):c.-187G>C	C12orf57	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1239610	NM_138425.3(C12orf57):c.-164G>A	C12orf57	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1225267	NM_138425.3(C12orf57):c.-136A>C	C12orf57	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1302662	NM_138425.4(C12orf57):c.-91_-75del	C12orf57	Deletion (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 1243490	NM_138425.4(C12orf57):c.-70T>G	C12orf57	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GBenign
Select item 1691662	NM_138425.4(C12orf57):c.-28C>T	C12orf57	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 1300814	NM_138425.4(C12orf57):c.-27C>T	C12orf57	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 3057901	NM_138425.4(C12orf57):c.-7del	C12orf57	Deletion (5 prime UTR variant +2 more)	C12orf57-related disorder	GLikely benign
Select item 434547	NM_138425.4(C12orf57):c.-5G>A	C12orf57	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 1336592	NM_138425.4(C12orf57):c.-4C>T	C12orf57	Single nucleotide variant (5 prime UTR variant +2 more)	not provided +1 more	GUncertain significance
Select item 1301495	NM_138425.4(C12orf57):c.-3C>T	C12orf57	Single nucleotide variant (5 prime UTR variant +2 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 41942	NM_138425.4(C12orf57):c.1A>G (p.Met1Val)	C12orf57 (M1V)	Single nucleotide variant (missense variant +4 more)	Temtamy syndrome +1 more	GPathogenic/Likely pathogenic
Select item 2859820	NM_138425.4(C12orf57):c.4del (p.Ala2fs)	C12orf57 (A2fs)	Deletion (frameshift variant +4 more)	Temtamy syndrome	GPathogenic
Select item 2627440	NM_138425.4(C12orf57):c.3G>A (p.Met1Ile)	C12orf57 (M1I)	Single nucleotide variant (missense variant +4 more)	Temtamy syndrome	GPathogenic
Select item 1953186	NM_138425.4(C12orf57):c.5C>T (p.Ala2Val)	C12orf57 (A2V)	Single nucleotide variant (missense variant +3 more)	Temtamy syndrome	GUncertain significance
Select item 2086511	NM_138425.4(C12orf57):c.6G>T (p.Ala2=)	C12orf57	Single nucleotide variant (synonymous variant +3 more)	Temtamy syndrome	GLikely benign
Select item 1681810	NM_138425.4(C12orf57):c.8C>T (p.Ser3Phe)	C12orf57 (S3F)	Single nucleotide variant (non-coding transcript variant +3 more)	Temtamy syndrome	GUncertain significance
Select item 772565	NM_138425.4(C12orf57):c.9C>T (p.Ser3=)	C12orf57	Single nucleotide variant (synonymous variant +3 more)	Temtamy syndrome +1 more	GLikely benign
Select item 1038571	NM_138425.4(C12orf57):c.10G>C (p.Ala4Pro)	C12orf57 (A4P)	Single nucleotide variant (missense variant +3 more)	Temtamy syndrome	GUncertain significance
Select item 660590	NM_138425.4(C12orf57):c.10G>A (p.Ala4Thr)	C12orf57 (A4T)	Single nucleotide variant (missense variant +3 more)	Temtamy syndrome	GUncertain significance
Select item 1034698	NM_138425.4(C12orf57):c.11C>G (p.Ala4Gly)	C12orf57 (A4G)	Single nucleotide variant (missense variant +3 more)	Temtamy syndrome	GUncertain significance
Select item 747919	NM_138425.4(C12orf57):c.12C>G (p.Ala4=)	C12orf57	Single nucleotide variant (synonymous variant +3 more)	not provided +1 more	GLikely benign
Select item 729903	NM_138425.4(C12orf57):c.12C>T (p.Ala4=)	C12orf57	Single nucleotide variant (synonymous variant +3 more)	Temtamy syndrome	GLikely benign
Select item 938203	NM_138425.4(C12orf57):c.13T>G (p.Ser5Ala)	C12orf57 (S5A)	Single nucleotide variant (missense variant +3 more)	Temtamy syndrome	GUncertain significance
Select item 1681811	NM_138425.4(C12orf57):c.15G>C (p.Ser5=)	C12orf57	Single nucleotide variant (synonymous variant +3 more)	Temtamy syndrome	GLikely benign
Select item 1156069	NM_138425.4(C12orf57):c.15G>T (p.Ser5=)	C12orf57	Single nucleotide variant (synonymous variant +3 more)	Temtamy syndrome	GLikely benign
Select item 862158	NM_138425.4(C12orf57):c.17C>G (p.Thr6Ser)	C12orf57 (T6S)	Single nucleotide variant (missense variant +3 more)	Temtamy syndrome	GUncertain significance
Select item 1681812	NM_138425.4(C12orf57):c.18C>G (p.Thr6=)	C12orf57	Single nucleotide variant (synonymous variant +3 more)	Temtamy syndrome	GLikely benign
Select item 1964294	NM_138425.4(C12orf57):c.19C>T (p.Gln7Ter)	C12orf57 (Q7*)	Single nucleotide variant (nonsense +3 more)	Temtamy syndrome	GPathogenic
Select item 1009158	NM_138425.4(C12orf57):c.20A>C (p.Gln7Pro)	C12orf57 (Q7P)	Single nucleotide variant (missense variant +3 more)	Temtamy syndrome	GUncertain significance
Select item 451670	NM_138425.4(C12orf57):c.20A>G (p.Gln7Arg)	C12orf57 (Q7R)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 1681813	NM_138425.4(C12orf57):c.21A>G (p.Gln7=)	C12orf57	Single nucleotide variant (synonymous variant +3 more)	Temtamy syndrome	GUncertain significance
Select item 1047591	NM_138425.4(C12orf57):c.23C>T (p.Pro8Leu)	C12orf57 (P8L)	Single nucleotide variant (missense variant +3 more)	not provided +1 more	GUncertain significance
Select item 935011	NM_138425.4(C12orf57):c.24G>A (p.Pro8=)	C12orf57	Single nucleotide variant (synonymous variant +3 more)	Temtamy syndrome	GLikely benign
Select item 934000	NM_138425.4(C12orf57):c.26C>T (p.Ala9Val)	C12orf57 (A9V)	Single nucleotide variant (missense variant +3 more)	Temtamy syndrome	GUncertain significance
Select item 711208	NM_138425.4(C12orf57):c.27G>A (p.Ala9=)	C12orf57	Single nucleotide variant (synonymous variant +3 more)	Temtamy syndrome	GLikely benign
Select item 583017	NM_138425.4(C12orf57):c.28G>C (p.Ala10Pro)	C12orf57 (A10P)	Single nucleotide variant (missense variant +3 more)	Temtamy syndrome	GUncertain significance
Select item 966252	NM_138425.4(C12orf57):c.29C>T (p.Ala10Val)	C12orf57 (A10V)	Single nucleotide variant (missense variant +3 more)	Temtamy syndrome	GUncertain significance
Select item 2574879	NM_138425.4(C12orf57):c.32dup (p.Leu11fs)	C12orf57 (L11fs)	Duplication (frameshift variant +3 more)	not provided	GUncertain significance
Select item 1681814	NM_138425.4(C12orf57):c.30C>G (p.Ala10=)	C12orf57	Single nucleotide variant (synonymous variant +3 more)	Temtamy syndrome	GLikely benign
Select item 434548	NM_138425.4(C12orf57):c.30C>T (p.Ala10=)	C12orf57	Single nucleotide variant (synonymous variant +3 more)	Temtamy syndrome +1 more	GBenign/Likely benign
Select item 2097947	NM_138425.4(C12orf57):c.31T>A (p.Leu11Met)	C12orf57 (L11M)	Single nucleotide variant (missense variant +3 more)	Temtamy syndrome	GUncertain significance
Select item 2103241	NM_138425.4(C12orf57):c.32T>C (p.Leu11Ser)	C12orf57 (L11S)	Single nucleotide variant (missense variant +3 more)	Temtamy syndrome	GUncertain significance
Select item 572527	NM_138425.4(C12orf57):c.32T>G (p.Leu11Trp)	C12orf57 (L11W)	Single nucleotide variant (missense variant +3 more)	Temtamy syndrome	GUncertain significance
Select item 1017217	NM_138425.4(C12orf57):c.33G>C (p.Leu11Phe)	C12orf57 (L11F)	Single nucleotide variant (missense variant +3 more)	not provided +1 more	GUncertain significance
Select item 1681815	NM_138425.4(C12orf57):c.35G>T (p.Ser12Ile)	C12orf57 (S12I)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 972195	NM_138425.4(C12orf57):c.35G>A (p.Ser12Asn)	C12orf57 (S12N)	Single nucleotide variant (missense variant +3 more)	not provided +2 more	GUncertain significance
Select item 1681816	NM_138425.4(C12orf57):c.36C>T (p.Ser12=)	C12orf57	Single nucleotide variant (synonymous variant +3 more)	Temtamy syndrome	GLikely benign
Select item 575714	NM_138425.4(C12orf57):c.37G>A (p.Ala13Thr)	C12orf57 (A13T)	Single nucleotide variant (missense variant +3 more)	Temtamy syndrome	GUncertain significance

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