SLC29A2[gene] - ClinVar

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Items: 41

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154814	GRCh38/hg38 11q13.1-13.2(chr11:65741431-67705669)x1	GAL3ST3, GPR152 +282 more	Copy number loss	See cases	GPathogenic
Select item 59757	GRCh38/hg38 11q13.2(chr11:66193502-67890770)x3	ACTN3, ACY3 +212 more	Copy number gain	See cases	GPathogenic
Select item 3164059	NM_001532.3(SLC29A2):c.1337C>A (p.Ala446Asp)	B4GAT1-DT, SLC29A2 (A446D)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 3164058	NM_001532.3(SLC29A2):c.1291G>A (p.Gly431Ser)	B4GAT1-DT, SLC29A2 (G431S)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2621444	NM_001532.3(SLC29A2):c.1198A>G (p.Met400Val)	SLC29A2 (H355R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3164056	NM_001532.3(SLC29A2):c.1138G>A (p.Val380Met)	SLC29A2 (R335H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3164055	NM_001532.3(SLC29A2):c.1076G>A (p.Arg359Gln)	SLC29A2 (R359Q)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2507854	NM_001532.3(SLC29A2):c.1075C>T (p.Arg359Trp)	SLC29A2 (P314L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2319501	NM_001532.3(SLC29A2):c.928G>A (p.Ala310Thr)	SLC29A2 (A310T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2470356	NM_001532.3(SLC29A2):c.919G>A (p.Val307Ile)	SLC29A2 (V307I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3319419	NM_001532.3(SLC29A2):c.832C>G (p.Pro278Ala)	SLC29A2 (P278A)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3164066	NM_001532.3(SLC29A2):c.741C>A (p.Asn247Lys)	SLC29A2 (N247K)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2359821	NM_001532.3(SLC29A2):c.720G>C (p.Glu240Asp)	SLC29A2 (E240D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2512707	NM_001532.3(SLC29A2):c.689C>T (p.Ala230Val)	SLC29A2 (A230V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2555703	NM_001532.3(SLC29A2):c.568A>T (p.Thr190Ser)	SLC29A2 (T190S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2511666	NM_001532.3(SLC29A2):c.565G>A (p.Glu189Lys)	SLC29A2 (E189K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3164064	NM_001532.3(SLC29A2):c.554G>A (p.Gly185Asp)	SLC29A2 (G185D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3164063	NM_001532.3(SLC29A2):c.539T>G (p.Leu180Arg)	SLC29A2 (L180R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2487922	NM_001532.3(SLC29A2):c.533T>C (p.Met178Thr)	SLC29A2 (M178T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2390441	NM_001532.3(SLC29A2):c.485T>A (p.Leu162His)	SLC29A2 (L162H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2379881	NM_001532.3(SLC29A2):c.479G>C (p.Ser160Thr)	SLC29A2 (S160T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3164062	NM_001532.3(SLC29A2):c.395C>T (p.Ala132Val)	SLC29A2 (A132V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3164061	NM_001532.3(SLC29A2):c.394G>T (p.Ala132Ser)	SLC29A2 (A132S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2479563	NM_001532.3(SLC29A2):c.371G>C (p.Gly124Ala)	SLC29A2 (G124A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2539288	NM_001532.3(SLC29A2):c.293G>A (p.Arg98His)	SLC29A2 (R98H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3164060	NM_001532.3(SLC29A2):c.176C>T (p.Thr59Met)	SLC29A2 (T59M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3164057	NM_001532.3(SLC29A2):c.122C>T (p.Ala41Val)	SLC29A2 (A41V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3063215	GRCh37/hg19 11q12.1-13.3(chr11:56895955-69295402)x3	ACTN3, ACY3 +343 more	Copy number gain	not specified	GLikely pathogenic
Select item 2684646	GRCh37/hg19 11q12.2-13.5(chr11:59923608-76272324)x3	FOLR2, RAB3IL1 +362 more	Copy number gain	not provided	GPathogenic
Select item 2425650	NC_000011.9:g.(?_66099747)_(66291373_?)dup	B4GAT1, BBS1 +7 more	Duplication	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13	GUncertain significance
Select item 2424770	NC_000011.9:g.(?_64973914)_(70052579_?)dup	ACTN3, ACY3 +124 more	Duplication	Aicardi-Goutieres syndrome 3 +1 more	GUncertain significance
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	MAML2, MAP3K11 +955 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1527644	GRCh37/hg19 11q13.1-13.2(chr11:64935724-66405514)	ACTN3, AP5B1 +63 more	Copy number loss	not specified	GUncertain significance
Select item 1449359	NC_000011.9:g.(?_64522783)_(66283694_?)del	AP5B1, ARL2 +81 more	Deletion	Bardet-Biedl syndrome +1 more	GPathogenic
Select item 1340579	GRCh37/hg19 11q13.2(chr11:65963737-66581485)x1	ACTN3, B4GAT1 +25 more	Copy number loss	not provided	GUncertain significance
Select item 997825	Single allele	MMP13, MMP20 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 625593	GRCh37/hg19 11q13.1-13.2(chr11:65138976-67574402)	ACTN3, ACY3 +94 more	Copy number gain	not provided	GPathogenic
Select item 443398	GRCh37/hg19 11q13.1-13.2(chr11:64501919-67129258)x3	ACTN3, ANKRD13D +104 more	Copy number gain	See cases	GLikely pathogenic
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 253811	GRCh37/hg19 11q13.2(chr11:66024774-67430781)x3	ACTN3, ACY3 +57 more	Copy number gain	See cases	GUncertain significance

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Items: 41