OARD1[gene] - ClinVar

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Items: 30

	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 58427	GRCh38/hg38 6p21.2-21.1(chr6:37777369-45653843)x1	LOC129996415, LOC129996416 +435 more	Copy number loss	See cases	GPathogenic
Select item 2304869	NM_001329686.2(OARD1):c.397T>A (p.Ser133Thr)	OARD1 (S94T +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2411038	NM_001329686.2(OARD1):c.357G>T (p.Arg119Ser)	OARD1 (R119S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203634	NM_001329686.2(OARD1):c.328A>G (p.Asn110Asp)	OARD1 (N110D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2599416	NM_001329686.2(OARD1):c.234A>G (p.Ile78Met)	OARD1 (I78M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3203633	NM_001329686.2(OARD1):c.227G>A (p.Arg76Gln)	OARD1 (R76Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3203632	NM_001329686.2(OARD1):c.209T>C (p.Val70Ala)	OARD1 (V31A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2374394	NM_001329686.2(OARD1):c.208G>A (p.Val70Ile)	OARD1 (V70I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2245810	NM_001329686.2(OARD1):c.172C>T (p.Leu58Phe)	OARD1 (L19F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3301790	NM_001329686.2(OARD1):c.139C>T (p.Leu47Phe)	OARD1 (L8F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242444	NM_001329686.2(OARD1):c.128G>A (p.Gly43Glu)	OARD1 (G43E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459606	NM_001329686.2(OARD1):c.124G>A (p.Ala42Thr)	OARD1 (A42T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523687	NM_001329686.2(OARD1):c.115C>T (p.Arg39Cys)	OARD1 (R39C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2588503	NM_001329686.2(OARD1):c.83A>C (p.Asp28Ala)	OARD1 (D28A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2486054	NM_001329686.2(OARD1):c.65T>C (p.Phe22Ser)	OARD1 (F22S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2265034	NM_002505.5(NFYA):c.34A>G (p.Thr12Ala)	NFYA, OARD1 (T12A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2332308	NM_002505.5(NFYA):c.120G>C (p.Gln40His)	NFYA, OARD1 (Q40H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2309849	NM_002505.5(NFYA):c.509A>G (p.Tyr170Cys)	NFYA, OARD1 (Y170C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3198851	NM_002505.5(NFYA):c.646G>A (p.Gly216Arg)	NFYA, OARD1 (G187R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2620871	NM_002505.5(NFYA):c.658G>A (p.Val220Ile)	NFYA, OARD1 (V220I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3299593	NM_002505.5(NFYA):c.695A>G (p.Asn232Ser)	NFYA, OARD1 (N203S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2309850	NM_002505.5(NFYA):c.704G>C (p.Gly235Ala)	NFYA, OARD1 (G206A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3198861	NM_002505.5(NFYA):c.991G>A (p.Asp331Asn)	NFYA, OARD1 (D331N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2486987	NM_002505.5(NFYA):c.999C>G (p.Asn333Lys)	NFYA, OARD1 (N304K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2292017	NM_002505.5(NFYA):c.1036G>C (p.Val346Leu)	NFYA, OARD1 (V346L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2685202	GRCh37/hg19 6p21.31-21.1(chr6:35562152-42003452)x1	BNIP5, APOBEC2 +67 more	Copy number loss	not provided	GPathogenic
Select item 625706	GRCh37/hg19 6p22.1-q14.1(chr6:29455465-81447367)	ERVH-3, ETV7 +427 more	Copy number gain	not provided	GPathogenic
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: 30