120775[Gene ID] - ClinVar

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Items: 46

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 151263	GRCh38/hg38 11p15.5-15.4(chr11:61793-10727969)x3	DENND5A, DNHD1 +723 more	Copy number gain	See cases	GPathogenic
Select item 144515	GRCh38/hg38 11p15.5-15.1(chr11:446754-18904742)x3	TRIM22, TRIM3 +917 more	Copy number gain	See cases	GPathogenic
Select item 3302681	NM_001004684.1(OR2D3):c.5G>T (p.Cys2Phe)	OR2D3 (C2F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205101	NM_001004684.1(OR2D3):c.31A>G (p.Lys11Glu)	OR2D3 (K11E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205110	NM_001004684.1(OR2D3):c.87C>G (p.Ile29Met)	OR2D3 (I29M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309981	NM_001004684.1(OR2D3):c.106G>C (p.Asp36His)	OR2D3 (D36H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3302679	NM_001004684.1(OR2D3):c.124C>A (p.Leu42Met)	OR2D3 (L42M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266252	NM_001004684.1(OR2D3):c.154C>G (p.Leu52Val)	OR2D3 (L52V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275390	NM_001004684.1(OR2D3):c.286C>A (p.Gln96Lys)	OR2D3 (Q96K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339729	NM_001004684.1(OR2D3):c.314G>A (p.Arg105Lys)	OR2D3 (R105K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205102	NM_001004684.1(OR2D3):c.331T>C (p.Tyr111His)	OR2D3 (Y111H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205103	NM_001004684.1(OR2D3):c.386C>T (p.Ala129Val)	OR2D3 (A129V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205104	NM_001004684.1(OR2D3):c.418G>A (p.Val140Met)	OR2D3 (V140M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357665	NM_001004684.1(OR2D3):c.449C>T (p.Thr150Ile)	OR2D3 (T150I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409254	NM_001004684.1(OR2D3):c.527C>G (p.Thr176Ser)	OR2D3 (T176S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518065	NM_001004684.1(OR2D3):c.543T>A (p.His181Gln)	OR2D3 (H181Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3205105	NM_001004684.1(OR2D3):c.641C>T (p.Ala214Val)	OR2D3 (A214V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387053	NM_001004684.1(OR2D3):c.644T>C (p.Ile215Thr)	OR2D3 (I215T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205107	NM_001004684.1(OR2D3):c.652A>G (p.Met218Val)	OR2D3 (M218V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205108	NM_001004684.1(OR2D3):c.658G>A (p.Val220Met)	OR2D3 (V220M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3257585	NM_001004684.1(OR2D3):c.683C>T (p.Ser228Phe)	OR2D3 (S228F)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2330852	NM_001004684.1(OR2D3):c.742G>A (p.Glu248Lys)	OR2D3 (E248K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455009	NM_001004684.1(OR2D3):c.796C>G (p.Leu266Val)	OR2D3 (L266V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205109	NM_001004684.1(OR2D3):c.812G>A (p.Gly271Glu)	OR2D3 (G271E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3302680	NM_001004684.1(OR2D3):c.856C>G (p.Leu286Val)	OR2D3 (L286V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338303	NM_001004684.1(OR2D3):c.970A>G (p.Lys324Glu)	OR2D3 (K324E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2684635	GRCh37/hg19 11p15.4(chr11:6801941-7136661)x3	NLRP14, OR10A2 +9 more	Copy number gain	not provided	GUncertain significance
Select item 2503522	GRCh37/hg19 11p15.5-15.4(chr11:230615-8821443)x3	ANO9, AP2A2 +210 more	Copy number gain	Russell-Silver syndrome	GPathogenic
Select item 1807629	GRCh37/hg19 11p15.5-15.4(chr11:230616-8250724)x3	CAVIN3, CCKBR +205 more	Copy number gain	not provided	GPathogenic
Select item 1707435	GRCh37/hg19 11p15.5-14.2(chr11:230615-26881146)x3	CYP2R1, DBX1 +308 more	Copy number gain	See cases	GPathogenic
Select item 1340891	GRCh37/hg19 11p15.4(chr11:6502523-7248333)x3	ARFIP2, DCHS1 +19 more	Copy number gain	not provided	GUncertain significance
Select item 981209	GRCh37/hg19 11p15.5-15.4(chr11:210300-8664358)x3	CHRNA10, CNGA4 +208 more	Copy number gain	Silver-Russell syndrome 1	GPathogenic
Select item 815405	GRCh37/hg19 11p15.4(chr11:6890900-6969676)x1	ZNF215, OR10A2 +3 more	Copy number loss	not provided	GUncertain significance
Select item 815395	GRCh37/hg19 11p15.5-13(chr11:235934-33826995)x3	CALCB, CARS1 +343 more	Copy number gain	not provided	GPathogenic
Select item 686332	GRCh37/hg19 11p15.4(chr11:6908898-7058885)x1	NLRP14, OR2D2 +3 more	Copy number loss	not provided	GUncertain significance
Select item 685522	GRCh37/hg19 11p15.4(chr11:6754444-6982365)x1	OR10A2, OR10A4 +7 more	Copy number loss	not provided	GUncertain significance
Select item 666458	GRCh37/hg19 11p15.4(chr11:6851550-6984119)x1	OR10A2, OR10A4 +4 more	Copy number loss	not provided	GUncertain significance
Select item 625559	GRCh37/hg19 11p15.5-15.3(chr11:193146-12643136)	C11orf40, C11orf42 +243 more	Copy number gain	Silver-Russell syndrome 1	GPathogenic
Select item 563883	GRCh37/hg19 11p15.5-15.1(chr11:230615-17099213)x3	ADM, AKIP1 +258 more	Copy number gain	not provided	GPathogenic
Select item 563880	GRCh37/hg19 11p15.5-15.4(chr11:230615-9704511)x3	AKIP1, ANO9 +222 more	Copy number gain	not provided	GPathogenic
Select item 563821	GRCh37/hg19 11p15.4(chr11:6905914-7062692)x1	ZNF215, OR2D3 +3 more	Copy number loss	not provided	GUncertain significance
Select item 441985	GRCh37/hg19 11p15.5-13(chr11:230615-31995219)x3	DEAF1, DENND2B +327 more	Copy number gain	See cases	GPathogenic
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	SLC37A4, SNORD26 +1289 more	Copy number gain	See cases	GPathogenic
Select item 441787	GRCh37/hg19 11p15.5-14.3(chr11:230615-25584362)x3	ASCL3, CEND1 +305 more	Copy number gain	See cases	GPathogenic
Select item 441715	GRCh37/hg19 11p15.5-12(chr11:230615-37698540)x3	ART5, CCDC34 +364 more	Copy number gain	See cases	GPathogenic

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Items: 46