30879[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 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 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 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 153563	GRCh38/hg38 12p13.33-12.2(chr12:1258274-20657577)x3	A2M, A2M-AS1 +853 more	Copy number gain	See cases	GPathogenic
Select item 153115	GRCh38/hg38 12p13.33-13.32(chr12:2188620-3361190)x3	CACNA1C, CACNA1C-AS1 +42 more	Copy number gain	See cases	GUncertain significance
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 153100	GRCh38/hg38 12p13.33-13.32(chr12:2619985-3489688)x3	CACNA1C, CACNA1C-AS1 +39 more	Copy number gain	See cases	GUncertain significance
Select item 3286656	NM_018463.4(ITFG2):c.10G>C (p.Val4Leu)	ITFG2, ITFG2-AS1 (V4L)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2400924	NM_018463.4(ITFG2):c.37G>A (p.Glu13Lys)	ITFG2, ITFG2-AS1 (E13K)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3111114	NM_018463.4(ITFG2):c.67A>G (p.Ile23Val)	ITFG2, ITFG2-AS1 (I23V)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3111108	NM_018463.4(ITFG2):c.109G>T (p.Val37Leu)	ITFG2 (V37L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2240715	NM_018463.4(ITFG2):c.122C>T (p.Thr41Ile)	ITFG2 (T41I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3286653	NM_018463.4(ITFG2):c.146A>G (p.Lys49Arg)	ITFG2 (K49R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3286655	NM_018463.4(ITFG2):c.148A>G (p.Asn50Asp)	ITFG2 (N50D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2305935	NM_018463.4(ITFG2):c.157A>G (p.Ser53Gly)	ITFG2 (S53G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2615512	NM_018463.4(ITFG2):c.218T>A (p.Val73Glu)	ITFG2 (V73E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3111111	NM_018463.4(ITFG2):c.280G>T (p.Asp94Tyr)	ITFG2 (D94Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3286657	NM_018463.4(ITFG2):c.341A>G (p.Glu114Gly)	ITFG2 (E114G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2598701	NM_018463.4(ITFG2):c.347G>A (p.Arg116His)	ITFG2 (R116H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2536065	NM_018463.4(ITFG2):c.347G>T (p.Arg116Leu)	ITFG2 (R116L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2519824	NM_018463.4(ITFG2):c.385G>A (p.Val129Ile)	ITFG2 (V129I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2538898	NM_018463.4(ITFG2):c.400G>A (p.Asp134Asn)	ITFG2 (D134N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2241830	NM_018463.4(ITFG2):c.422G>A (p.Arg141His)	ITFG2 (R141H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 432256	NM_018463.4(ITFG2):c.425A>G (p.Glu142Gly)	ITFG2 (E142G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3286658	NM_018463.4(ITFG2):c.437G>C (p.Gly146Ala)	ITFG2 (G146A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2491206	NM_018463.4(ITFG2):c.569T>A (p.Leu190Gln)	ITFG2 (L190Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2377353	NM_018463.4(ITFG2):c.575C>T (p.Pro192Leu)	ITFG2 (P192L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3111113	NM_018463.4(ITFG2):c.637A>G (p.Thr213Ala)	ITFG2 (T213A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2491455	NM_018463.4(ITFG2):c.689G>T (p.Gly230Val)	ITFG2 (G230V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2590172	NM_018463.4(ITFG2):c.703C>T (p.Pro235Ser)	ITFG2 (P235S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3111115	NM_018463.4(ITFG2):c.713G>A (p.Arg238Gln)	ITFG2 (R238Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3111116	NM_018463.4(ITFG2):c.760G>A (p.Val254Ile)	ITFG2 (V254I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2383094	NM_018463.4(ITFG2):c.799G>A (p.Gly267Ser)	ITFG2 (G267S)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2248156	NM_018463.4(ITFG2):c.806A>C (p.Glu269Ala)	ITFG2 (E269A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2383319	NM_018463.4(ITFG2):c.955G>A (p.Gly319Arg)	ITFG2 (G319R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3111107	NM_018463.4(ITFG2):c.1012A>G (p.Asn338Asp)	ITFG2 (N338D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3286652	NM_018463.4(ITFG2):c.1031T>G (p.Phe344Cys)	ITFG2 (F344C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2232773	NM_018463.4(ITFG2):c.1075G>A (p.Ala359Thr)	ITFG2 (A359T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2490075	NM_018463.4(ITFG2):c.1087G>A (p.Gly363Ser)	ITFG2 (G363S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3286654	NM_018463.4(ITFG2):c.1108G>A (p.Val370Ile)	ITFG2 (V370I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2290266	NM_018463.4(ITFG2):c.1149G>T (p.Glu383Asp)	ITFG2 (E383D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2393924	NM_018463.4(ITFG2):c.1205C>T (p.Pro402Leu)	ITFG2 (P402L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3111109	NM_018463.4(ITFG2):c.1249G>A (p.Asp417Asn)	ITFG2 (D417N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3111110	NM_018463.4(ITFG2):c.1289A>G (p.Tyr430Cys)	ITFG2 (Y430C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2232137	NM_031474.3(NRIP2):c.797C>T (p.Pro266Leu)	ITFG2, NRIP2 (P266L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519251	NM_031474.3(NRIP2):c.775G>A (p.Gly259Arg)	NRIP2, ITFG2 (G259R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334899	NM_031474.3(NRIP2):c.773A>T (p.His258Leu)	ITFG2, NRIP2 (H258L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292241	NM_031474.3(NRIP2):c.739C>G (p.Leu247Val)	ITFG2, NRIP2 (L247V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3301052	NM_031474.3(NRIP2):c.715G>C (p.Glu239Gln)	ITFG2, NRIP2 (E239Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525322	NM_031474.3(NRIP2):c.686C>T (p.Ser229Leu)	ITFG2, NRIP2 (S229L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277538	NM_031474.3(NRIP2):c.648G>C (p.Gln216His)	ITFG2, NRIP2 (Q216H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335736	NM_031474.3(NRIP2):c.631C>T (p.Pro211Ser)	ITFG2, NRIP2 (P211S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283860	NM_031474.3(NRIP2):c.591G>C (p.Arg197Ser)	ITFG2, NRIP2 (R197S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410441	NM_031474.3(NRIP2):c.584A>G (p.Glu195Gly)	ITFG2, NRIP2 (E195G)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2225427	NM_031474.3(NRIP2):c.530C>G (p.Thr177Arg)	ITFG2, NRIP2 (T177R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493415	NM_031474.3(NRIP2):c.520G>C (p.Ala174Pro)	ITFG2, NRIP2 (A174P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547559	NM_031474.3(NRIP2):c.515G>C (p.Arg172Thr)	ITFG2, NRIP2 (R172T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3301053	NM_031474.3(NRIP2):c.425T>C (p.Leu142Pro)	ITFG2, NRIP2 (L142P)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3202150	NM_031474.3(NRIP2):c.421G>A (p.Asp141Asn)	ITFG2, NRIP2 (D141N)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2597984	NM_031474.3(NRIP2):c.399G>T (p.Gln133His)	ITFG2, NRIP2 (Q133H)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2282131	NM_031474.3(NRIP2):c.386C>T (p.Pro129Leu)	ITFG2, NRIP2 (P129L)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3202149	NM_031474.3(NRIP2):c.367C>A (p.Arg123Ser)	ITFG2, NRIP2 (R123S)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2326700	NM_031474.3(NRIP2):c.367C>T (p.Arg123Cys)	ITFG2, NRIP2 (R123C)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2299285	NM_031474.3(NRIP2):c.354T>G (p.Ser118Arg)	ITFG2, NRIP2 (S118R)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3202148	NM_031474.3(NRIP2):c.349C>T (p.Arg117Cys)	ITFG2, NRIP2 (R117C)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3301051	NM_031474.3(NRIP2):c.331T>A (p.Ser111Thr)	ITFG2, NRIP2 (S111T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273376	NM_031474.3(NRIP2):c.325G>A (p.Gly109Ser)	ITFG2, NRIP2 (G109S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202147	NM_031474.3(NRIP2):c.250C>G (p.Arg84Gly)	ITFG2, NRIP2 (R84G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265553	NM_031474.3(NRIP2):c.236T>C (p.Leu79Pro)	ITFG2, NRIP2 (L79P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360075	NM_031474.3(NRIP2):c.208G>A (p.Glu70Lys)	ITFG2, NRIP2 (E70K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361067	NM_031474.3(NRIP2):c.197C>T (p.Thr66Met)	ITFG2, NRIP2 (T66M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202146	NM_031474.3(NRIP2):c.109C>A (p.Pro37Thr)	ITFG2, NRIP2 (P37T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535444	NM_021953.4(FOXM1):c.2249C>T (p.Pro750Leu)	FOXM1, ITFG2 (P691L +14 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2456131	NM_021953.4(FOXM1):c.2147G>A (p.Arg716His)	FOXM1, ITFG2 (R658H +14 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2597679	NM_021953.4(FOXM1):c.2144A>G (p.Asn715Ser)	FOXM1, ITFG2 (N714S +14 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2388150	NM_021953.4(FOXM1):c.2114C>T (p.Pro705Leu)	FOXM1, ITFG2 (P691L +14 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394995	NM_021953.4(FOXM1):c.2036C>T (p.Ser679Leu)	FOXM1, ITFG2 (S679L +14 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 773528	NM_021953.4(FOXM1):c.2018C>T (p.Pro673Leu)	FOXM1, ITFG2 (P658L +3 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 711070	NM_021953.4(FOXM1):c.2006C>G (p.Pro669Arg)	FOXM1, ITFG2 (P653R +3 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 708115	NM_021953.4(FOXM1):c.2002C>A (p.Pro668Thr)	FOXM1, ITFG2 (P706T +3 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2213346	NM_021953.4(FOXM1):c.1975C>T (p.Leu659Phe)	FOXM1, ITFG2 (L418F +14 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262751	NM_021953.4(FOXM1):c.1945C>G (p.Pro649Ala)	FOXM1, ITFG2 (P633A +14 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096500	NM_021953.4(FOXM1):c.1915C>G (p.Pro639Ala)	FOXM1, ITFG2 (P581A +14 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2410190	NM_021953.4(FOXM1):c.1915C>T (p.Pro639Ser)	FOXM1, ITFG2 (P383S +14 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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