ClinVar for Gene (Select 85465) - ClinVar

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Links from Gene

Items: 60

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3247339	NC_000002.11:g.(?_26486228)_(26781439_?)del	SELENOI, ADGRF3 +3 more	Deletion	Mitochondrial trifunctional protein deficiency	GPathogenic
Select item 3159518	NM_033505.4(SELENOI):c.628G>A (p.Glu210Lys)	SELENOI (E210K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3159517	NM_033505.4(SELENOI):c.592A>C (p.Ile198Leu)	SELENOI (I198L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3159516	NM_033505.4(SELENOI):c.564T>G (p.Ile188Met)	SELENOI (I188M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3159515	NM_033505.4(SELENOI):c.445A>G (p.Thr149Ala)	SELENOI (T149A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3159514	NM_033505.4(SELENOI):c.264G>C (p.Trp88Cys)	SELENOI (W88C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3159512	NM_033505.4(SELENOI):c.191A>G (p.Asn64Ser)	SELENOI (N64S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3159511	NM_033505.4(SELENOI):c.127G>A (p.Val43Ile)	SELENOI (V43I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3159510	NM_033505.4(SELENOI):c.1103A>G (p.Gln368Arg)	SELENOI (Q368R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3159509	NM_033505.4(SELENOI):c.1024G>T (p.Val342Phe)	SELENOI (V342F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3159508	NM_033505.4(SELENOI):c.1019C>T (p.Ser340Phe)	SELENOI (S340F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3148883	GRCh37/hg19 2p25.3-22.3(chr2:12771-35541353)x3	ABHD1, ACP1 +182 more	Copy number gain	See cases	GPathogenic
Select item 3062643	GRCh37/hg19 2p23.3(chr2:25929370-26572068)x1	ADGRF3, ASXL2 +6 more	Copy number loss	not specified	GUncertain significance
Select item 2650747	NM_033505.4(SELENOI):c.963T>C (p.Asn321=)	SELENOI	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2650746	NM_033505.4(SELENOI):c.147G>A (p.Ala49=)	SELENOI	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2650745	NM_033505.4(SELENOI):c.142C>T (p.Leu48=)	SELENOI	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2618251	NM_033505.4(SELENOI):c.991G>A (p.Val331Ile)	SELENOI (V331I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2599164	NM_033505.4(SELENOI):c.77A>G (p.Asn26Ser)	SELENOI (N26S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2576535	NM_033505.4(SELENOI):c.126G>A (p.Lys42=)	SELENOI	Single nucleotide variant (synonymous variant +1 more)	Spastic paraplegia 81, autosomal recessive	GPathogenic
Select item 2576534	NM_033505.4(SELENOI):c.134C>T (p.Pro45Leu)	SELENOI (P45L)	Single nucleotide variant (missense variant +1 more)	Spastic paraplegia 81, autosomal recessive	GPathogenic
Select item 2522200	NM_033505.4(SELENOI):c.820A>G (p.Thr274Ala)	SELENOI (T274A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469279	NM_033505.4(SELENOI):c.946C>T (p.Arg316Trp)	SELENOI (R316W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2454778	NM_033505.4(SELENOI):c.62G>A (p.Ser21Asn)	SELENOI (S21N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2427621	NC_000002.11:g.(?_26414119)_(26712628_?)dup	ADGRF3, DRC1 +4 more	Duplication	not provided	GUncertain significance
Select item 2427541	NC_000002.11:g.(?_24443763)_(29022169_?)dup	ZNF513, SLC5A6 +65 more	Duplication	not provided	GUncertain significance
Select item 2425074	NC_000002.11:g.(?_24443763)_(30143525_?)dup	SLC4A1AP, OTOF +72 more	Duplication	not provided	GUncertain significance
Select item 1808629	GRCh37/hg19 2p25.3-22.3(chr2:706460-35523639)x3	ABHD1, ADAM17 +177 more	Copy number gain	not provided	GPathogenic
Select item 1708190	GRCh37/hg19 2p25.1-q13(chr2:11504318-111365996)x1	ACTG2, ACTR1B +529 more	Copy number loss	See cases	GPathogenic
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 1683737	NM_033505.4(SELENOI):c.631C>T (p.Pro211Ser)	SELENOI (P211S)	Single nucleotide variant (missense variant +1 more)	Spastic paraplegia 81, autosomal recessive	GUncertain significance
Select item 1527792	GRCh37/hg19 2p23.3(chr2:26592685-27262646)	CENPA, CIB4 +9 more	Copy number gain	not specified	GUncertain significance
Select item 1298797	NM_033505.4(SELENOI):c.1047A>G (p.Thr349=)	SELENOI	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1294693	NM_033505.4(SELENOI):c.897T>C (p.Ala299=)	SELENOI	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1287916	NM_033505.4(SELENOI):c.683-13T>C	SELENOI	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1269841	NM_033505.4(SELENOI):c.731+132T>A	SELENOI	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1242818	NM_033505.4(SELENOI):c.913-18T>G	SELENOI	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1239310	NM_033505.4(SELENOI):c.58-94G>A	SELENOI	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1238476	NM_033505.4(SELENOI):c.306T>G (p.Thr102=)	SELENOI	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1238370	NM_033505.4(SELENOI):c.732-12T>C	SELENOI	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1234339	NM_033505.4(SELENOI):c.58-186T>C	SELENOI	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1233969	NM_033505.4(SELENOI):c.310+30C>T	SELENOI	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1220534	GRCh37/hg19 2p23.3-21(chr2:24601818-43466284)x3	OTOF, OXER1 +131 more	Copy number gain	See cases	GPathogenic
Select item 1180161	NM_033505.4(SELENOI):c.1095+65G>A	SELENOI	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1179738	NM_033505.4(SELENOI):c.732-201C>G	SELENOI	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1176757	GRCh37/hg19 2p23.3-21(chr2:24881528-43460021)x3	EML4, FAM98A +131 more	Copy number gain	not provided	GLikely pathogenic
Select item 812575	NM_033505.4(SELENOI):c.732-2A>G	SELENOI	Single nucleotide variant (splice acceptor variant)	Spastic paraplegia 81, autosomal recessive	GPathogenic
Select item 812574	NM_033505.4(SELENOI):c.335G>C (p.Arg112Pro)	SELENOI (R112P)	Single nucleotide variant (missense variant +1 more)	Spastic paraplegia 81, autosomal recessive	GPathogenic
Select item 790499	NM_033505.4(SELENOI):c.1013T>C (p.Val338Ala)	SELENOI (V338A)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 787225	NM_033505.4(SELENOI):c.1140G>A (p.Leu380=)	SELENOI	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	RGPD4, RGPD5 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	IL1F10, IL1R1 +1214 more	Copy number gain	See cases	GPathogenic
Select item 155615	GRCh38/hg38 2p25.3-21(chr2:236816-45983232)x3	ABCG5, ABCG8 +1400 more	Copy number gain	See cases	GPathogenic
Select item 153817	GRCh38/hg38 2p24.1-23.2(chr2:22579652-28525186)x1	TRY-GTA2-1, UBXN2A +321 more	Copy number loss	See cases	GPathogenic
Select item 153441	GRCh38/hg38 2p25.3-22.3(chr2:12770-33711509)x3	ABHD1, ACP1 +1047 more	Copy number gain	See cases	GPathogenic
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	LOC126806252, LOC126806253 +2457 more	Copy number gain	See cases	GBenign
Select item 147963	GRCh38/hg38 2p23.3(chr2:25064306-27154398)x1	ABHD1, ADGRF3 +142 more	Copy number loss	See cases	GUncertain significance
Select item 146072	GRCh38/hg38 2p25.3-23.2(chr2:30341-28419664)x3	C2orf48, C2orf50 +893 more	Copy number gain	See cases	GPathogenic
Select item 60106	GRCh38/hg38 2p23.3(chr2:26332971-26439657)x1	ADGRF3, DRC1 +4 more	Copy number loss	See cases	GPathogenic
Select item 59133	GRCh38/hg38 2p25.3-16.1(chr2:66097-55570637)x3	ABCG5, ABCG8 +1631 more	Copy number gain	See cases	GPathogenic
Select item 58840	GRCh38/hg38 2p23.3(chr2:25759602-27297636)x3	ABHD1, ADGRF3 +99 more	Copy number gain	See cases	GUncertain significance

ClinVar

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Links from Gene

Items: 60