ClinVar for Gene (Select 23041) - ClinVar

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Links from Gene

Items: 67

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2685437	GRCh37/hg19 12q14.1-15(chr12:61755618-70035424)x1	AVPR1A, C12orf56 +40 more	Copy number loss	not provided	GPathogenic
Select item 2612756	NM_015026.3(MON2):c.2566T>C (p.Ser856Pro)	MON2 (S784P +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2590941	NM_015026.3(MON2):c.1862T>C (p.Val621Ala)	MON2 (V549A +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2588985	NM_015026.3(MON2):c.2489G>A (p.Arg830Gln)	MON2 (R758Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2559926	NM_015026.3(MON2):c.2063A>G (p.His688Arg)	MON2 (H616R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2555463	NM_015026.3(MON2):c.2401A>G (p.Thr801Ala)	MON2 (T729A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2551178	NM_015026.3(MON2):c.1937G>A (p.Ser646Asn)	MON2 (S623N +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2537746	NM_015026.3(MON2):c.2416A>G (p.Met806Val)	MON2 (M734V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2529030	NM_015026.3(MON2):c.3290A>G (p.Asn1097Ser)	MON2 (N1025S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2518363	NM_015026.3(MON2):c.3835A>G (p.Ile1279Val)	MON2 (I1207V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2517598	NM_015026.3(MON2):c.773C>T (p.Pro258Leu)	MON2 (P186L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2508794	NM_015026.3(MON2):c.1909G>A (p.Val637Ile)	MON2 (V637I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2507702	NM_015026.3(MON2):c.3429G>C (p.Trp1143Cys)	MON2 (W1143C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2495854	NM_015026.3(MON2):c.124G>A (p.Gly42Arg)	MON2, MON2-AS1 (G42R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2493711	NM_015026.3(MON2):c.4865A>C (p.Tyr1622Ser)	MON2 (Y1550S +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2481042	NM_015026.3(MON2):c.2813C>T (p.Pro938Leu)	MON2 (P915L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2478647	NM_015026.3(MON2):c.4627A>G (p.Lys1543Glu)	MON2 (K1537E +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2472268	NM_015026.3(MON2):c.155G>A (p.Arg52Gln)	MON2, MON2-AS1 (R52Q)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2459685	NM_015026.3(MON2):c.5125G>C (p.Ala1709Pro)	MON2 (A1637P +3 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2398284	NM_015026.3(MON2):c.1817C>T (p.Thr606Ile)	MON2 (T606I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2378216	NM_015026.3(MON2):c.1210C>T (p.Pro404Ser)	MON2 (P332S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2375124	NM_015026.3(MON2):c.2173G>A (p.Gly725Arg)	MON2 (G653R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2339701	NM_015026.3(MON2):c.4579G>A (p.Val1527Ile)	MON2 (V1455I +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2333085	NM_015026.3(MON2):c.3973G>A (p.Glu1325Lys)	MON2 (E1325K +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2311560	NM_015026.3(MON2):c.4927A>T (p.Ile1643Leu)	MON2 (I1614L +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2306973	NM_015026.3(MON2):c.4573G>A (p.Glu1525Lys)	MON2 (E1453K +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2282376	NM_015026.3(MON2):c.925A>G (p.Ile309Val)	MON2 (I237V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2280436	NM_015026.3(MON2):c.4807A>G (p.Ile1603Val)	MON2 (I1531V +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2256022	NM_015026.3(MON2):c.4672A>G (p.Ile1558Val)	MON2 (I1552V +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2254080	NM_015026.3(MON2):c.242A>G (p.Lys81Arg)	MON2 (K9R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2226764	NM_015026.3(MON2):c.3790C>G (p.Leu1264Val)	MON2 (L1241V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2226005	NM_015026.3(MON2):c.902C>A (p.Pro301Gln)	MON2 (P229Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2213369	NM_015026.3(MON2):c.2549A>G (p.Asn850Ser)	MON2 (N827S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2206931	NM_015026.3(MON2):c.4036A>G (p.Ile1346Val)	MON2 (I1274V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2205371	NM_015026.3(MON2):c.4333G>C (p.Val1445Leu)	MON2 (V1373L +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 768562	NM_015026.3(MON2):c.2466+10_2466+11del	MON2	Microsatellite (intron variant)	not provided	GBenign
Select item 743239	NM_015026.3(MON2):c.2580G>A (p.Arg860=)	MON2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 686035	GRCh37/hg19 12q14.1(chr12:62712069-62942925)x1	MON2, USP15	Copy number loss	not provided	GUncertain significance
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	HMGA2, HNF1A +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 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	AGAP2, ARF3 +1007 more	Copy number gain	See cases	GPathogenic
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	LOC126861648, LOC126861649 +4836 more	Copy number gain	See cases	GPathogenic
Select item 150076	GRCh38/hg38 12q14.1-14.3(chr12:60907151-66568077)x1	AVPR1A, C12orf56 +144 more	Copy number loss	See cases	GPathogenic
Select item 59019	GRCh38/hg38 12q13.3-14.2(chr12:57013355-63042498)x1	AGAP2, AGAP2-AS1 +199 more	Copy number loss	See cases	GPathogenic
Select item 58228	GRCh38/hg38 12q14.1(chr12:62284682-62605682)x3	LINC01465, LOC124629389 +8 more	Copy number gain	See cases	GUncertain significance
Select item 58212	GRCh38/hg38 12q14.1-14.2(chr12:60303553-63356583)x3	AVPR1A, LINC01465 +34 more	Copy number gain	See cases	GUncertain significance

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Links from Gene

Items: 67