144124[Gene ID] - ClinVar

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Items: 36

	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 3204467	NM_178168.1(OR10A5):c.31G>C (p.Glu11Gln)	OR10A5 (E11Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282039	NM_178168.1(OR10A5):c.44T>G (p.Met15Arg)	OR10A5 (M15R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236262	NM_178168.1(OR10A5):c.170A>G (p.His57Arg)	OR10A5 (H57R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292320	NM_178168.1(OR10A5):c.225C>G (p.Asn75Lys)	OR10A5 (N75K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3302375	NM_178168.1(OR10A5):c.271A>G (p.Thr91Ala)	OR10A5 (T91A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373607	NM_178168.1(OR10A5):c.285C>A (p.Phe95Leu)	OR10A5 (F95L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384306	NM_178168.1(OR10A5):c.352A>G (p.Thr118Ala)	OR10A5 (T118A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537059	NM_178168.1(OR10A5):c.356T>C (p.Met119Thr)	OR10A5 (M119T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3302374	NM_178168.1(OR10A5):c.427G>T (p.Ala143Ser)	OR10A5 (A143S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351556	NM_178168.1(OR10A5):c.496A>G (p.Ser166Gly)	OR10A5 (S166G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243800	NM_178168.1(OR10A5):c.578C>A (p.Thr193Lys)	OR10A5 (T193K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319613	NM_178168.1(OR10A5):c.634T>C (p.Cys212Arg)	OR10A5 (C212R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362251	NM_178168.1(OR10A5):c.695C>T (p.Ala232Val)	OR10A5 (A232V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330799	NM_178168.1(OR10A5):c.762A>G (p.Ile254Met)	OR10A5 (I254M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204469	NM_178168.1(OR10A5):c.783C>G (p.Phe261Leu)	OR10A5 (F261L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3302376	NM_178168.1(OR10A5):c.875G>A (p.Ser292Asn)	OR10A5 (S292N)	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 980406	GRCh37/hg19 11p15.4(chr11:6839027-6908897)x1	OR10A5, OR10A2 +1 more	Copy number loss	not provided	GLikely benign
Select item 815395	GRCh37/hg19 11p15.5-13(chr11:235934-33826995)x3	CALCB, CARS1 +343 more	Copy number gain	not provided	GPathogenic
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 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: 36