12613[HGNC] - ClinVar

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Items: 44

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 59019	GRCh38/hg38 12q13.3-14.2(chr12:57013355-63042498)x1	AGAP2, AGAP2-AS1 +199 more	Copy number loss	See cases	GPathogenic
Select item 58212	GRCh38/hg38 12q14.1-14.2(chr12:60303553-63356583)x3	AVPR1A, LINC01465 +34 more	Copy number gain	See cases	GUncertain significance
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 155464	GRCh38/hg38 12q14.1(chr12:61201517-62266814)x3	LOC124629388, LOC126861552 +10 more	Copy number gain	See cases	GUncertain significance
Select item 58228	GRCh38/hg38 12q14.1(chr12:62284682-62605682)x3	LINC01465, LOC124629389 +8 more	Copy number gain	See cases	GUncertain significance
Select item 2206161	NM_001252078.2(USP15):c.187G>A (p.Gly63Arg)	USP15 (G63R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3060061	NM_001252078.2(USP15):c.246C>T (p.His82=)	USP15	Single nucleotide variant (synonymous variant +2 more)	USP15-related disorder	GBenign
Select item 2253736	NM_001252078.2(USP15):c.499A>G (p.Lys167Glu)	USP15 (K46E +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3187166	NM_001252078.2(USP15):c.651T>A (p.Asp217Glu)	USP15 (D217E +1 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2391256	NM_001252078.2(USP15):c.673T>C (p.Ser225Pro)	USP15 (S104P +1 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3042654	NM_001252078.2(USP15):c.801A>G (p.Ser267=)	USP15	Single nucleotide variant (synonymous variant +2 more)	USP15-related disorder	GLikely benign
Select item 2466053	NM_001252078.2(USP15):c.853C>G (p.Gln285Glu)	USP15 (Q164E +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2463446	NM_001252078.2(USP15):c.1069G>A (p.Val357Ile)	USP15 (V328I +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3187162	NM_001252078.2(USP15):c.1093C>G (p.Gln365Glu)	USP15 (Q32E +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2482720	NM_001252078.2(USP15):c.1291G>T (p.Asp431Tyr)	USP15 (D310Y +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2360631	NM_001252078.2(USP15):c.1310T>C (p.Ile437Thr)	USP15 (I104T +4 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 3033240	NM_001252078.2(USP15):c.1371A>G (p.Thr457=)	USP15	Single nucleotide variant (synonymous variant +1 more)	USP15-related disorder	GLikely benign
Select item 3060073	NM_001252078.2(USP15):c.1455A>G (p.Pro485=)	USP15	Single nucleotide variant (synonymous variant +1 more)	USP15-related disorder	GBenign
Select item 2632097	NM_001252078.2(USP15):c.1506A>G (p.Ile502Met)	USP15 (I169M +4 more)	Single nucleotide variant (missense variant +1 more)	USP15-related disorder	GUncertain significance
Select item 2291549	NM_001252078.2(USP15):c.1512T>A (p.Asp504Glu)	USP15 (D255E +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2600166	NM_001252078.2(USP15):c.1562T>C (p.Ile521Thr)	USP15 (I400T +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3050545	NM_001252078.2(USP15):c.1572T>C (p.Asp524=)	USP15	Single nucleotide variant (synonymous variant +1 more)	USP15-related disorder	GLikely benign
Select item 3045839	NM_001252078.2(USP15):c.1602C>T (p.Phe534=)	USP15	Single nucleotide variant (synonymous variant +1 more)	USP15-related disorder	GLikely benign
Select item 2279959	NM_001252078.2(USP15):c.1693G>A (p.Val565Met)	USP15 (V232M +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2342632	NM_001252078.2(USP15):c.1852G>A (p.Val618Ile)	USP15 (V369I +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2258807	NM_001252078.2(USP15):c.1901G>T (p.Cys634Phe)	USP15 (C301F +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2478759	NM_001252078.2(USP15):c.1922G>A (p.Gly641Glu)	USP15 (G520E +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2288196	NM_001252078.2(USP15):c.1939A>T (p.Ile647Leu)	USP15 (I398L +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2610364	NM_001252078.2(USP15):c.2014C>G (p.Pro672Ala)	USP15 (P339A +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2360632	NM_001252078.2(USP15):c.2061T>G (p.Asp687Glu)	USP15 (D354E +4 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 3059803	NM_001252078.2(USP15):c.2301T>C (p.Ala767=)	USP15	Single nucleotide variant (synonymous variant +1 more)	USP15-related disorder	GBenign
Select item 2488124	NM_001252078.2(USP15):c.2446C>G (p.Gln816Glu)	USP15 (Q483E +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2315187	NM_001252078.2(USP15):c.2497G>A (p.Val833Ile)	USP15 (V500I +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2290606	NM_001252078.2(USP15):c.2620C>A (p.Arg874Ser)	USP15 (R541S +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3187164	NM_001252078.2(USP15):c.2897A>G (p.Asn966Ser)	USP15 (N633S +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2280562	NM_001252078.2(USP15):c.2902A>G (p.Asn968Asp)	USP15 (N939D +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3187165	NM_001252078.2(USP15):c.2933T>G (p.Met978Arg)	USP15 (M729R +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2685437	GRCh37/hg19 12q14.1-15(chr12:61755618-70035424)x1	AVPR1A, C12orf56 +40 more	Copy number loss	not provided	GPathogenic
Select item 686035	GRCh37/hg19 12q14.1(chr12:62712069-62942925)x1	MON2, USP15	Copy number loss	not provided	GUncertain significance
Select item 563894	GRCh37/hg19 12q14.1(chr12:62637277-62702326)x1	USP15	Copy number loss	not provided	GUncertain significance
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	DBX2, DCD +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

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Items: 44