28624[HGNC] - ClinVar

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Items: 90

	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	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 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 57155	GRCh38/hg38 12p13.33(chr12:832749-1632145)x3	ERC1, FBXL14 +30 more	Copy number gain	See cases	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 58206	GRCh38/hg38 12p13.33(chr12:1453550-2575642)x3	ADIPOR2, CACNA1C +49 more	Copy number gain	See cases	GUncertain significance
Select item 2378469	NM_152441.3(FBXL14):c.1153G>A (p.Val385Ile)	FBXL14 (V385I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093487	NM_152441.3(FBXL14):c.1145G>A (p.Cys382Tyr)	FBXL14 (C382Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2386852	NM_152441.3(FBXL14):c.1022T>C (p.Val341Ala)	FBXL14 (V341A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247104	NM_152441.3(FBXL14):c.998G>A (p.Arg333His)	FBXL14 (R333H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093490	NM_152441.3(FBXL14):c.902C>G (p.Ala301Gly)	FBXL14 (A301G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2469473	NM_152441.3(FBXL14):c.832A>G (p.Ser278Gly)	FBXL14 (S278G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 778076	NM_152441.3(FBXL14):c.763C>T (p.Leu255=)	FBXL14	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3278038	NM_152441.3(FBXL14):c.683C>G (p.Thr228Arg)	FBXL14 (T228R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2605210	NM_152441.3(FBXL14):c.663G>T (p.Lys221Asn)	FBXL14 (K221N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2399585	NM_152441.3(FBXL14):c.604C>G (p.Leu202Val)	FBXL14 (L202V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390460	NM_152441.3(FBXL14):c.447G>C (p.Glu149Asp)	FBXL14 (E149D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2642570	NM_152441.3(FBXL14):c.381C>T (p.Cys127=)	FBXL14, LOC130007165	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3278037	NM_152441.3(FBXL14):c.271A>G (p.Asn91Asp)	FBXL14, LOC130007165 (N91D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2242895	NM_152441.3(FBXL14):c.160C>G (p.Leu54Val)	FBXL14 (L54V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331285	NM_152441.3(FBXL14):c.140G>A (p.Gly47Glu)	FBXL14 (G47E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093489	NM_152441.3(FBXL14):c.79C>A (p.Arg27Ser)	FBXL14 (R27S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2619771	NM_152441.3(FBXL14):c.79C>T (p.Arg27Cys)	FBXL14 (R27C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3278036	NM_152441.3(FBXL14):c.74A>G (p.Lys25Arg)	FBXL14 (K25R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3093488	NM_152441.3(FBXL14):c.52G>C (p.Gly18Arg)	FBXL14 (G18R)	Single nucleotide variant (missense variant +1 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 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 2671607	Single allele	FGD4, FGF23 +278 more	Duplication	not provided	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 2427496	NC_000012.11:g.(?_862732)_(2800365_?)dup	ADIPOR2, CACNA1C +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 1807708	GRCh37/hg19 12p13.33-13.31(chr12:173787-8320544)x3	ACRBP, ACSM4 +105 more	Copy number gain	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 1330180	GRCh37/hg19 12p13.33-13.31(chr12:146240-8330229)x3	CLEC4A, LRRC23 +106 more	Copy number gain	Single transverse palmar crease +6 more	GPathogenic
Select item 1180524	GRCh37/hg19 12p13.33-13.31(chr12:189145-7730395)x3	CRACR2A, ERC1 +93 more	Copy number gain	not provided	GPathogenic
Select item 979958	GRCh37/hg19 12p13.33-13.32(chr12:191242-4683495)x1	ADIPOR2, B4GALNT3 +33 more	Copy number loss	not provided	GPathogenic
Select item 815498	GRCh37/hg19 12p13.33(chr12:1018370-1680695)x3	WNK1, RAD52 +2 more	Copy number gain	not provided	GLikely benign
Select item 815493	GRCh37/hg19 12p13.33-q11(chr12:274676-37869301)x4	ART4, DYRK4 +278 more	Copy number gain	not provided	GPathogenic
Select item 689316	GRCh37/hg19 12p13.33(chr12:1550562-1861557)x1	ADIPOR2, ERC1 +2 more	Copy number loss	not provided	GUncertain significance
Select item 688469	GRCh37/hg19 12p13.33(chr12:1436977-2156672)x3	ADIPOR2, CACNA2D4 +5 more	Copy number gain	not provided	GUncertain significance
Select item 687115	GRCh37/hg19 12p13.33-13.31(chr12:173786-6346092)x1	ADIPOR2, AKAP3 +44 more	Copy number loss	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 685635	GRCh37/hg19 12p13.33-13.31(chr12:173786-8393815)x3	ACRBP, ACSM4 +107 more	Copy number gain	not provided	GPathogenic
Select item 625811	GRCh37/hg19 12p13.33-13.31(chr12:189216-8185497)	ACRBP, ACSM4 +102 more	Copy number gain	not provided	GPathogenic
Select item 625810	GRCh37/hg19 12p13.33-13.31(chr12:237588-8278292)	ACRBP, ACSM4 +105 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 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 563988	GRCh37/hg19 12p13.33-13.31(chr12:191242-8122785)x3	ACRBP, ACSM4 +101 more	Copy number gain	not provided	GPathogenic
Select item 563987	GRCh37/hg19 12p13.33-13.31(chr12:173786-6201932)x1	ADIPOR2, AKAP3 +43 more	Copy number loss	not provided	GPathogenic
Select item 563986	GRCh37/hg19 12p13.33-13.31(chr12:173786-6039841)x1	ADIPOR2, AKAP3 +42 more	Copy number loss	not provided	GPathogenic
Select item 563985	GRCh37/hg19 12p13.33-13.31(chr12:173786-5952112)x1	ADIPOR2, AKAP3 +42 more	Copy number loss	not provided	GPathogenic
Select item 563982	GRCh37/hg19 12p13.33-13.32(chr12:173786-4105910)x1	ADIPOR2, B4GALNT3 +27 more	Copy number loss	not provided	GPathogenic
Select item 563979	GRCh37/hg19 12p13.33(chr12:173786-2793493)x1	ADIPOR2, B4GALNT3 +16 more	Copy number loss	not provided	GPathogenic
Select item 563956	GRCh37/hg19 12p13.33(chr12:990136-1680695)x3	ERC1, WNK1 +2 more	Copy number gain	not provided	GLikely benign
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 441823	GRCh37/hg19 12p13.33-13.2(chr12:173786-11677456)x3	A2M, A2ML1 +166 more	Copy number gain	See cases	GPathogenic
Select item 441628	GRCh37/hg19 12p13.33(chr12:173786-2108237)x3	ADIPOR2, B4GALNT3 +15 more	Copy number gain	See cases	GUncertain significance
Select item 395673	GRCh37/hg19 12p13.33-11.1(chr12:189578-34756150)	A2M, A2ML1 +278 more	Copy number gain	See cases	GPathogenic
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 253849	GRCh37/hg19 12p13.33(chr12:1555573-2655985)x3	ADIPOR2, CACNA1C +6 more	Copy number gain	See cases	GUncertain significance
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 253551	GRCh37/hg19 12p13.33-13.32(chr12:222888-3931052)x1	ADIPOR2, B4GALNT3 +27 more	Copy number loss	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

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Items: 90