28657[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 975789	t(1;12)(p36.1;p13.32)dn	EYA3, CRACR2A	Translocation	Short stature	GUncertain significance
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 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 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 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	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 147690	GRCh38/hg38 12p13.33-13.31(chr12:199896-5807366)x1	ADIPOR2, AKAP3 +218 more	Copy number loss	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 153563	GRCh38/hg38 12p13.33-12.2(chr12:1258274-20657577)x3	A2M, A2M-AS1 +853 more	Copy number gain	See cases	GPathogenic
Select item 58983	GRCh38/hg38 12p13.33-13.32(chr12:2492728-4829842)x1	AKAP3, CACNA1C +91 more	Copy number loss	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 149766	GRCh38/hg38 12p13.32(chr12:3404282-3895416)x1	CRACR2A, LOC130007192 +6 more	Copy number loss	See cases	GLikely benign
Select item 2348547	NM_001144958.2(CRACR2A):c.2161G>A (p.Gly721Ser)	CRACR2A (G721S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346769	NM_001144958.2(CRACR2A):c.2119A>C (p.Lys707Gln)	CRACR2A (K707Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 146376	GRCh38/hg38 12p13.32(chr12:3617675-4492591)x3	CCND2, CCND2-AS1 +30 more	Copy number gain	See cases	GLikely benign
Select item 2543659	NM_001144958.2(CRACR2A):c.2026C>A (p.Leu676Ile)	CRACR2A (L676I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077202	NM_001144958.2(CRACR2A):c.2017G>A (p.Gly673Arg)	CRACR2A (G673R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379093	NM_001144958.2(CRACR2A):c.2008C>T (p.Arg670Trp)	CRACR2A (R670W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326452	NM_001144958.2(CRACR2A):c.2001A>C (p.Glu667Asp)	CRACR2A (E667D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269393	NM_001144958.2(CRACR2A):c.1999G>C (p.Glu667Gln)	CRACR2A (E667Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077201	NM_001144958.2(CRACR2A):c.1997G>A (p.Arg666Gln)	CRACR2A (R666Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246578	NM_001144958.2(CRACR2A):c.1936G>T (p.Ala646Ser)	CRACR2A (A646S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077200	NM_001144958.2(CRACR2A):c.1871T>C (p.Met624Thr)	CRACR2A (M624T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2688078	NM_001144958.2(CRACR2A):c.1818-18G>A	CRACR2A	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2688307	NM_001144958.2(CRACR2A):c.1818-29A>G	CRACR2A	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2520438	NM_001144958.2(CRACR2A):c.1811A>G (p.Gln604Arg)	CRACR2A (Q604R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2507675	NM_001144958.2(CRACR2A):c.1784C>T (p.Ala595Val)	CRACR2A (A595V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600213	NM_001144958.2(CRACR2A):c.1771A>G (p.Asn591Asp)	CRACR2A (N591D)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2274601	NM_001144958.2(CRACR2A):c.1768G>T (p.Asp590Tyr)	CRACR2A (D590Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366172	NM_001144958.2(CRACR2A):c.1748G>A (p.Arg583His)	CRACR2A (R583H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2688160	NM_001144958.2(CRACR2A):c.1736-68G>A	CRACR2A	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 3269391	NM_001144958.2(CRACR2A):c.1724C>T (p.Ala575Val)	CRACR2A (A575V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594093	NM_001144958.2(CRACR2A):c.1709T>A (p.Phe570Tyr)	CRACR2A (F570Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282506	NM_001144958.2(CRACR2A):c.1708T>C (p.Phe570Leu)	CRACR2A (F570L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402573	NM_001144958.2(CRACR2A):c.1664C>T (p.Ala555Val)	CRACR2A (A555V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2642578	NM_001144958.2(CRACR2A):c.1602+6G>A	CRACR2A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3269395	NM_001144958.2(CRACR2A):c.1571G>A (p.Gly524Glu)	CRACR2A (G524E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593106	NM_001144958.2(CRACR2A):c.1568G>A (p.Arg523Gln)	CRACR2A (R523Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544278	NM_001144958.2(CRACR2A):c.1552A>G (p.Thr518Ala)	CRACR2A (T518A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225441	NM_001144958.2(CRACR2A):c.1529C>T (p.Pro510Leu)	CRACR2A (P510L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599573	NM_001144958.2(CRACR2A):c.1513G>T (p.Val505Leu)	CRACR2A (V505L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077198	NM_001144958.2(CRACR2A):c.1506C>G (p.Asp502Glu)	CRACR2A (D502E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287912	NM_001144958.2(CRACR2A):c.1502C>T (p.Ser501Phe)	CRACR2A (S501F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330756	NM_001144958.2(CRACR2A):c.1439C>T (p.Pro480Leu)	CRACR2A (P480L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392278	NM_001144958.2(CRACR2A):c.1406G>A (p.Arg469His)	CRACR2A (R469H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376549	NM_001144958.2(CRACR2A):c.1397G>A (p.Arg466Gln)	CRACR2A (R466Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473928	NM_001144958.2(CRACR2A):c.1393C>G (p.Pro465Ala)	CRACR2A (P465A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2563876	NM_001144958.2(CRACR2A):c.1390T>C (p.Tyr464His)	CRACR2A (Y464H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272520	NM_001144958.2(CRACR2A):c.1388C>T (p.Pro463Leu)	CRACR2A (P463L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269392	NM_001144958.2(CRACR2A):c.1340C>G (p.Pro447Arg)	CRACR2A (P447R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077196	NM_001144958.2(CRACR2A):c.1282G>A (p.Glu428Lys)	CRACR2A (E428K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077195	NM_001144958.2(CRACR2A):c.1256G>C (p.Arg419Thr)	CRACR2A (R419T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304007	NM_001144958.2(CRACR2A):c.1235T>C (p.Ile412Thr)	CRACR2A (I412T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307591	NM_001144958.2(CRACR2A):c.1182G>T (p.Lys394Asn)	CRACR2A (K394N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2688283	NM_001144958.2(CRACR2A):c.1165-42A>G	CRACR2A	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2330517	NM_001144958.2(CRACR2A):c.1138C>T (p.Arg380Trp)	CRACR2A (R380W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2687954	NM_001144958.2(CRACR2A):c.1118+160A>G	CRACR2A	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GBenign
Select item 2351157	NM_001144958.2(CRACR2A):c.1090G>A (p.Gly364Arg)	CRACR2A (G364R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598399	NM_001144958.2(CRACR2A):c.1079G>A (p.Arg360His)	CRACR2A (R360H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077194	NM_001144958.2(CRACR2A):c.1064C>T (p.Thr355Met)	CRACR2A (T355M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294558	NM_001144958.2(CRACR2A):c.1058G>A (p.Arg353His)	CRACR2A (R353H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2688219	NM_001144958.2(CRACR2A):c.1046+61T>C	CRACR2A	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 3077193	NM_001144958.2(CRACR2A):c.1031A>C (p.His344Pro)	CRACR2A (H344P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1703063	NM_001144958.2(CRACR2A):c.1019C>T (p.Ala340Val)	CRACR2A (A340V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2626793	NM_001144958.2(CRACR2A):c.898G>T (p.Glu300Ter)	CRACR2A (E300*)	Single nucleotide variant (nonsense)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 1802647	NM_001144958.2(CRACR2A):c.834G>T (p.Glu278Asp)	CRACR2A (E278D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2257832	NM_001144958.2(CRACR2A):c.796C>A (p.Leu266Met)	CRACR2A (L266M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2688280	NM_001144958.2(CRACR2A):c.762+25G>T	CRACR2A	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2309341	NM_001144958.2(CRACR2A):c.728A>C (p.Gln243Pro)	CRACR2A (Q243P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2688125	NM_001144958.2(CRACR2A):c.636T>A (p.His212Gln)	CRACR2A (H212Q)	Single nucleotide variant (missense variant)	not specified	GBenign
Select item 2516810	NM_001144958.2(CRACR2A):c.631G>A (p.Ala211Thr)	CRACR2A (A211T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2688126	NM_001144958.2(CRACR2A):c.582G>A (p.Leu194=)	CRACR2A	Single nucleotide variant (synonymous variant)	not specified	GBenign
Select item 2299174	NM_001144958.2(CRACR2A):c.565G>A (p.Glu189Lys)	CRACR2A (E189K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2688127	NM_001144958.2(CRACR2A):c.525-21T>C	CRACR2A	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 3077205	NM_001144958.2(CRACR2A):c.513G>T (p.Lys171Asn)	CRACR2A (K171N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358110	NM_001144958.2(CRACR2A):c.503G>T (p.Gly168Val)	CRACR2A (G168V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315750	NM_001144958.2(CRACR2A):c.490A>C (p.Met164Leu)	CRACR2A (M164L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2688092	NM_001144958.2(CRACR2A):c.460G>A (p.Glu154Lys)	CRACR2A (E154K)	Single nucleotide variant (missense variant)	not specified	GBenign
Select item 2626792	NM_001144958.2(CRACR2A):c.430A>G (p.Arg144Gly)	CRACR2A	Single nucleotide variant (missense variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 1802646	NM_001144958.2(CRACR2A):c.[430A>G;898G>T]	CRACR2A (E300*)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2555814	NM_001144958.2(CRACR2A):c.422A>G (p.Tyr141Cys)	CRACR2A (Y141C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2688141	NM_001144958.2(CRACR2A):c.417G>A (p.Lys139=)	CRACR2A	Single nucleotide variant (synonymous variant)	not specified	GBenign
Select item 3077204	NM_001144958.2(CRACR2A):c.403C>T (p.Arg135Cys)	CRACR2A (R135C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2688093	NM_001144958.2(CRACR2A):c.383C>T (p.Ala128Val)	CRACR2A (A128V)	Single nucleotide variant (missense variant)	not specified	GBenign
Select item 2594094	NM_001144958.2(CRACR2A):c.322G>A (p.Glu108Lys)	CRACR2A (E108K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297883	NM_001144958.2(CRACR2A):c.310C>A (p.Leu104Met)	CRACR2A (L104M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2688142	NM_001144958.2(CRACR2A):c.292G>A (p.Ala98Thr)	CRACR2A (A98T)	Single nucleotide variant (missense variant)	not specified	GBenign
Select item 2688162	NM_001144958.2(CRACR2A):c.229-37dup	CRACR2A	Duplication (intron variant)	not specified	GBenign
Select item 2688143	NM_001144958.2(CRACR2A):c.229-47C>G	CRACR2A	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2688144	NM_001144958.2(CRACR2A):c.229-48C>T	CRACR2A	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2688281	NM_001144958.2(CRACR2A):c.229-92A>C	CRACR2A	Single nucleotide variant (intron variant)	not specified	GBenign

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