ClinVar for Gene (Select 3177) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 41

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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
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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 41