81697[Gene ID] - ClinVar

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Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	ILRUN-AS1, IP6K3 +2582 more	Copy number gain	See cases	GPathogenic
Select item 150044	GRCh38/hg38 6p25.2-21.33(chr6:3224310-30657190)x3	ABCF1, ABT1 +1340 more	Copy number gain	See cases	GPathogenic
Select item 144210	GRCh38/hg38 6p22.2-22.1(chr6:26280579-28727313)x3	ABT1, BTN1A1 +344 more	Copy number gain	See cases	GUncertain significance
Select item 2314520	NM_033057.2(OR2B2):c.893A>G (p.Lys298Arg)	OR2B2 (K298R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3302661	NM_033057.2(OR2B2):c.872C>T (p.Thr291Ile)	OR2B2 (T291I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217877	NM_033057.2(OR2B2):c.817A>G (p.Met273Val)	OR2B2 (M273V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205068	NM_033057.2(OR2B2):c.808C>G (p.Arg270Gly)	OR2B2 (R270G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282941	NM_033057.2(OR2B2):c.678G>C (p.Leu226Phe)	OR2B2 (L226F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3302659	NM_033057.2(OR2B2):c.659T>C (p.Phe220Ser)	OR2B2 (F220S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460010	NM_033057.2(OR2B2):c.598T>C (p.Phe200Leu)	OR2B2 (F200L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3302662	NM_033057.2(OR2B2):c.523G>A (p.Asp175Asn)	OR2B2 (D175N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370938	NM_033057.2(OR2B2):c.499C>T (p.Pro167Ser)	OR2B2 (P167S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334030	NM_033057.2(OR2B2):c.446G>T (p.Trp149Leu)	OR2B2 (W149L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528909	NM_033057.2(OR2B2):c.445T>C (p.Trp149Arg)	OR2B2 (W149R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471532	NM_033057.2(OR2B2):c.439G>A (p.Ala147Thr)	OR2B2 (A147T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205065	NM_033057.2(OR2B2):c.407T>A (p.Met136Lys)	OR2B2 (M136K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592929	NM_033057.2(OR2B2):c.383G>A (p.Arg128Gln)	OR2B2 (R128Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226974	NM_033057.2(OR2B2):c.382C>T (p.Arg128Trp)	OR2B2 (R128W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205064	NM_033057.2(OR2B2):c.349G>A (p.Val117Ile)	OR2B2 (V117I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3205063	NM_033057.2(OR2B2):c.221C>T (p.Thr74Ile)	OR2B2 (T74I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510363	NM_033057.2(OR2B2):c.163C>T (p.Leu55Phe)	OR2B2 (L55F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3302660	NM_033057.2(OR2B2):c.139C>A (p.Leu47Ile)	OR2B2 (L47I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241708	NM_033057.2(OR2B2):c.111G>C (p.Leu37Phe)	OR2B2 (L37F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318349	NM_033057.2(OR2B2):c.90G>C (p.Met30Ile)	OR2B2 (M30I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205067	NM_033057.2(OR2B2):c.64T>C (p.Trp22Arg)	OR2B2 (W22R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062925	GRCh37/hg19 6p22.1(chr6:27613035-28021256)x3	H1-5, H2AC13 +17 more	Copy number gain	not specified	GUncertain significance
Select item 814806	GRCh37/hg19 6p22.1(chr6:27616157-28011557)x3	H4C12, H2AC17 +17 more	Copy number gain	not provided	GLikely benign
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AARS2, ABCC10 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	RING1, RIOK1 +1028 more	Copy number gain	See cases	GPathogenic

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Items: 29