23336[HGNC] - 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 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	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 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 561801	NM_144670.4(A2ML1):c.-433T>C	A2ML1, A2ML1-AS1	Single nucleotide variant	not provided	GBenign
Select item 1317920	NC_000012.12:g.8822235C>T	A2ML1, A2ML1-AS1	Single nucleotide variant	not provided	GLikely benign
Select item 513335	NM_144670.5(A2ML1):c.-50C>G	A2ML1, A2ML1-AS1	Single nucleotide variant	not specified	GLikely benign
Select item 506741	NM_144670.5(A2ML1):c.-42T>A	A2ML1, A2ML1-AS1	Single nucleotide variant	not specified	GBenign
Select item 514943	NM_144670.6(A2ML1):c.-16T>C	A2ML1, A2ML1-AS1	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 241912	NM_144670.6(A2ML1):c.9T>A (p.Ala3=)	A2ML1-AS1, A2ML1	Single nucleotide variant (synonymous variant)	Otitis media, susceptibility to +2 more	GBenign/Likely benign
Select item 617555	NM_144670.6(A2ML1):c.10C>T (p.Gln4Ter)	A2ML1, A2ML1-AS1 (Q4*)	Single nucleotide variant (nonsense)	Otitis media, susceptibility to	GLikely pathogenic
Select item 646862	NM_144670.6(A2ML1):c.13C>G (p.Leu5Val)	A2ML1, A2ML1-AS1 (L5V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1297720	NM_144670.6(A2ML1):c.21A>G (p.Leu7=)	A2ML1, A2ML1-AS1	Single nucleotide variant (synonymous variant)	not specified	GBenign/Likely benign
Select item 1794915	NM_144670.6(A2ML1):c.26T>C (p.Met9Thr)	A2ML1, A2ML1-AS1 (M9T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1301380	NM_144670.6(A2ML1):c.29T>A (p.Leu10Ter)	A2ML1, A2ML1-AS1 (L10*)	Single nucleotide variant (nonsense)	not specified	GUncertain significance
Select item 2081802	NM_144670.6(A2ML1):c.36A>G (p.Leu12=)	A2ML1, A2ML1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 918129	NM_144670.6(A2ML1):c.44C>A (p.Ala15Asp)	A2ML1, A2ML1-AS1 (A15D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1063512	NM_144670.6(A2ML1):c.50C>A (p.Ala17Glu)	A2ML1, A2ML1-AS1 (A17E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2042917	NM_144670.6(A2ML1):c.52GAA[1] (p.Glu19del)	A2ML1, A2ML1-AS1 (E19del)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 2506102	NM_144670.6(A2ML1):c.52G>A (p.Glu18Lys)	A2ML1, A2ML1-AS1 (E18K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2449320	NM_144670.6(A2ML1):c.55G>A (p.Glu19Lys)	A2ML1, A2ML1-AS1 (E19K)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2057951	NM_144670.6(A2ML1):c.61C>A (p.Pro21Thr)	A2ML1, A2ML1-AS1 (P21T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 760642	NM_144670.6(A2ML1):c.61C>G (p.Pro21Ala)	A2ML1, A2ML1-AS1 (P21A)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 929084	NM_144670.6(A2ML1):c.62C>T (p.Pro21Leu)	A2ML1-AS1, A2ML1 (P21L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2055109	NM_144670.6(A2ML1):c.62+1G>A	A2ML1, A2ML1-AS1	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 849889	NM_144670.6(A2ML1):c.62+1G>C	A2ML1, A2ML1-AS1	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 2965507	NM_144670.6(A2ML1):c.62+9T>C	A2ML1, A2ML1-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 561550	NM_144670.6(A2ML1):c.63-173A>G	A2ML1, A2ML1-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1595153	NM_144670.6(A2ML1):c.63-14T>G	A2ML1, A2ML1-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 987849	NM_144670.6(A2ML1):c.63-6del	A2ML1, A2ML1-AS1	Deletion (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 413824	NM_144670.6(A2ML1):c.63-4A>G	A2ML1, A2ML1-AS1	Single nucleotide variant (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 2081446	NM_144670.6(A2ML1):c.68dup (p.Tyr23Ter)	A2ML1, A2ML1-AS1 (Y23*)	Duplication (nonsense)	not provided	GUncertain significance
Select item 654693	NM_144670.6(A2ML1):c.68A>G (p.Tyr23Cys)	A2ML1, A2ML1-AS1 (Y23C)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2120402	NM_144670.6(A2ML1):c.69C>G (p.Tyr23Ter)	A2ML1, A2ML1-AS1 (Y23*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1756561	NM_144670.6(A2ML1):c.69C>T (p.Tyr23=)	A2ML1, A2ML1-AS1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1412250	NM_144670.6(A2ML1):c.70C>G (p.Leu24Val)	A2ML1-AS1, A2ML1 (L24V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1389581	NM_144670.6(A2ML1):c.73G>A (p.Val25Met)	A2ML1, A2ML1-AS1 (V25M)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2100645	NM_144670.6(A2ML1):c.74T>C (p.Val25Ala)	A2ML1, A2ML1-AS1 (V25A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1543073	NM_144670.6(A2ML1):c.84A>T (p.Pro28=)	A2ML1, A2ML1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 406195	NM_144670.6(A2ML1):c.86C>A (p.Ala29Asp)	A2ML1, A2ML1-AS1 (A29D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2043310	NM_144670.6(A2ML1):c.88C>T (p.Arg30Trp)	A2ML1, A2ML1-AS1 (R30W)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 853059	NM_144670.6(A2ML1):c.89G>A (p.Arg30Gln)	A2ML1, A2ML1-AS1 (R30Q)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2106497	NM_144670.6(A2ML1):c.97T>C (p.Phe33Leu)	A2ML1, A2ML1-AS1 (F33L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2079830	NM_144670.6(A2ML1):c.97T>G (p.Phe33Val)	A2ML1, A2ML1-AS1 (F33V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 695806	NM_144670.6(A2ML1):c.105C>T (p.Ser35=)	A2ML1, A2ML1-AS1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 1014867	NM_144670.6(A2ML1):c.106G>A (p.Val36Ile)	A2ML1, A2ML1-AS1 (V36I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1794644	NM_144670.6(A2ML1):c.110A>G (p.Gln37Arg)	A2ML1, A2ML1-AS1 (Q37R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1495940	NM_144670.6(A2ML1):c.112_114del (p.Lys38del)	A2ML1, A2ML1-AS1 (K38del)	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 638924	NM_144670.6(A2ML1):c.115G>A (p.Val39Ile)	A2ML1, A2ML1-AS1 (V39I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 962868	NM_144670.6(A2ML1):c.118T>G (p.Cys40Gly)	A2ML1, A2ML1-AS1 (C40G)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2825909	NM_144670.6(A2ML1):c.126C>T (p.Asp42=)	A2ML1, A2ML1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2564141	NM_144670.6(A2ML1):c.127C>G (p.Leu43Val)	A2ML1, A2ML1-AS1 (L43V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1614910	NM_144670.6(A2ML1):c.127C>T (p.Leu43=)	A2ML1, A2ML1-AS1	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 917783	NM_144670.6(A2ML1):c.128_224dup (p.His75_Leu76insGluProTrpValGlnTer)	A2ML1-AS1, A2ML1	Duplication (nonsense +1 more)	not specified	GUncertain significance
Select item 646366	NM_144670.6(A2ML1):c.128T>C (p.Leu43Pro)	A2ML1, A2ML1-AS1 (L43P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2146094	NM_144670.6(A2ML1):c.129G>C (p.Leu43=)	A2ML1, A2ML1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2449344	NM_144670.6(A2ML1):c.133C>T (p.Pro45Ser)	A2ML1, A2ML1-AS1 (P45S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1381882	NM_144670.6(A2ML1):c.137G>T (p.Gly46Val)	A2ML1, A2ML1-AS1 (G46V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 846449	NM_144670.6(A2ML1):c.137G>A (p.Gly46Glu)	A2ML1, A2ML1-AS1 (G46E)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 963500	NM_144670.6(A2ML1):c.139T>C (p.Tyr47His)	A2ML1, A2ML1-AS1 (Y47H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 847138	NM_144670.6(A2ML1):c.141C>G (p.Tyr47Ter)	A2ML1, A2ML1-AS1 (Y47*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2905191	NM_144670.6(A2ML1):c.143G>C (p.Ser48Thr)	A2ML1, A2ML1-AS1 (S48T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2234565	NM_144670.6(A2ML1):c.148G>T (p.Val50Phe)	A2ML1, A2ML1-AS1 (V50F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1397370	NM_144670.6(A2ML1):c.158C>T (p.Thr53Met)	A2ML1, A2ML1-AS1 (T53M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 413807	NM_144670.6(A2ML1):c.158C>G (p.Thr53Arg)	A2ML1, A2ML1-AS1 (T53R)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign/Likely benign
Select item 2449325	NM_144670.6(A2ML1):c.159G>T (p.Thr53=)	A2ML1, A2ML1-AS1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 515640	NM_144670.6(A2ML1):c.159G>A (p.Thr53=)	A2ML1-AS1, A2ML1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 626339	NM_144670.6(A2ML1):c.164C>T (p.Thr55Ile)	A2ML1, A2ML1-AS1 (T55I)	Single nucleotide variant (missense variant)	Otitis media, susceptibility to +1 more	GUncertain significance
Select item 1930187	NM_144670.6(A2ML1):c.169G>A (p.Glu57Lys)	A2ML1, A2ML1-AS1 (E57K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 372642	NM_144670.6(A2ML1):c.171G>T (p.Glu57Asp)	A2ML1, A2ML1-AS1 (E57D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 284739	NM_144670.6(A2ML1):c.174_175dup (p.Lys59fs)	A2ML1, A2ML1-AS1 (K59fs)	Duplication (frameshift variant)	A2ML1-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 384687	NM_144670.6(A2ML1):c.186C>T (p.Thr62=)	A2ML1, A2ML1-AS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 224929	NM_144670.6(A2ML1):c.196C>T (p.Leu66=)	A2ML1, A2ML1-AS1	Single nucleotide variant (synonymous variant)	Otitis media, susceptibility to +2 more	GBenign/Likely benign
Select item 241887	NM_144670.6(A2ML1):c.200A>T (p.Glu67Val)	A2ML1, A2ML1-AS1 (E67V)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 1568915	NM_144670.6(A2ML1):c.201A>G (p.Glu67=)	A2ML1, A2ML1-AS1	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 1152801	NM_144670.6(A2ML1):c.216G>A (p.Lys72=)	A2ML1, A2ML1-AS1	Single nucleotide variant (synonymous variant)	A2ML1-related disorder +2 more	GLikely benign
Select item 2782830	NM_144670.6(A2ML1):c.218A>G (p.Lys73Arg)	A2ML1, A2ML1-AS1 (K73R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 701512	NM_144670.6(A2ML1):c.221G>C (p.Arg74Thr)	A2ML1, A2ML1-AS1 (R74T)	Single nucleotide variant (missense variant)	A2ML1-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 2974710	NM_144670.6(A2ML1):c.223C>A (p.His75Asn)	A2ML1, A2ML1-AS1 (H75N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2172987	NM_144670.6(A2ML1):c.225C>T (p.His75=)	A2ML1, A2ML1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1542948	NM_144670.6(A2ML1):c.231T>C (p.His77=)	A2ML1, A2ML1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3229192	NM_144670.6(A2ML1):c.233G>T (p.Cys78Phe)	A2ML1, A2ML1-AS1 (C78F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1569499	NM_144670.6(A2ML1):c.240C>T (p.Ser80=)	A2ML1, A2ML1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2028316	NM_144670.6(A2ML1):c.246+5G>A	A2ML1, A2ML1-AS1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 695655	NM_144670.6(A2ML1):c.246+8_246+9del	A2ML1, A2ML1-AS1	Microsatellite (intron variant)	not provided	GLikely benign
Select item 561671	NM_144670.6(A2ML1):c.246+139A>G	A2ML1-AS1, A2ML1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1317396	NM_144670.6(A2ML1):c.246+149A>G	A2ML1, A2ML1-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1673231	NM_144670.6(A2ML1):c.247-12T>C	A2ML1, A2ML1-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2747531	NM_144670.6(A2ML1):c.247-6G>C	A2ML1, A2ML1-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2127897	NM_144670.6(A2ML1):c.247-3C>G	A2ML1, A2ML1-AS1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2045700	NM_144670.6(A2ML1):c.250C>G (p.Pro84Ala)	A2ML1, A2ML1-AS1 (P84A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1792510	NM_144670.6(A2ML1):c.251C>T (p.Pro84Leu)	A2ML1, A2ML1-AS1 (P84L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 967222	NM_144670.6(A2ML1):c.256C>T (p.Pro86Ser)	A2ML1, A2ML1-AS1 (P86S)	Single nucleotide variant (missense variant)	A2ML1-related disorder +1 more	GUncertain significance

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