205327[geneid] - ClinVar

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Items: 53

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57301	GRCh38/hg38 2q31.1-33.2(chr2:174898848-203941548)x1	LOC129935164, LOC129935165 +697 more	Copy number loss	See cases	GPathogenic
Select item 58770	GRCh38/hg38 2q31.1-33.1(chr2:176304445-202039790)x1	LOC126806416, LOC126806417 +591 more	Copy number loss	See cases	GPathogenic
Select item 150620	GRCh38/hg38 2q31.3-36.2(chr2:180513793-224302848)x3	INPP1, ITGA4 +1097 more	Copy number gain	See cases	GPathogenic
Select item 146616	GRCh38/hg38 2q32.1-33.1(chr2:186027472-201059372)x1	ANKAR, ANKRD44 +329 more	Copy number loss	See cases	GPathogenic
Select item 59158	GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3	LOC129935343, LOC129935344 +1703 more	Copy number gain	See cases	GPathogenic
Select item 154206	GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3	AAMP, ABCA12 +1687 more	Copy number gain	See cases	GPathogenic
Select item 59159	GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3	LOC129935726, LOC129935727 +1665 more	Copy number gain	See cases	GPathogenic
Select item 152738	GRCh38/hg38 2q32.3-35(chr2:192938826-215705052)x1	ABCA12, ABI2 +509 more	Copy number loss	See cases	GPathogenic
Select item 57419	GRCh38/hg38 2q32.3-37.3(chr2:194898783-236473913)x3	LOC129935713, LOC129935714 +1299 more	Copy number gain	See cases	GPathogenic
Select item 146015	GRCh38/hg38 2q32.3-33.2(chr2:195660594-203969488)x1	ABI2, ALS2 +279 more	Copy number loss	See cases	GPathogenic
Select item 146362	GRCh38/hg38 2q33.1(chr2:197400023-202089348)x1	ALS2, AOX1 +145 more	Copy number loss	See cases	GLikely pathogenic
Select item 147402	GRCh38/hg38 2q33.1(chr2:198767347-202353840)x1	ALS2, AOX1 +117 more	Copy number loss	See cases	GPathogenic
Select item 2239755	NM_153689.6(C2orf69):c.5G>T (p.Trp2Leu)	C2orf69, LOC129935377 (W2L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2651804	NM_153689.6(C2orf69):c.17T>C (p.Leu6Pro)	C2orf69, LOC129935377 (L6P)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2212385	NM_153689.6(C2orf69):c.83C>G (p.Ser28Cys)	C2orf69, LOC129935377 (S28C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2651805	NM_153689.6(C2orf69):c.123G>A (p.Ala41=)	C2orf69, LOC129935377	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2446879	NM_153689.6(C2orf69):c.187_191dup (p.Asp64fs)	C2orf69 (D64fs)	Duplication (frameshift variant)	Combined oxidative phosphorylation deficiency 53	GLikely pathogenic
Select item 2651806	NM_153689.6(C2orf69):c.204C>T (p.Ser68=)	C2orf69	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2651807	NM_153689.6(C2orf69):c.246G>A (p.Glu82=)	C2orf69	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1177455	NM_153689.6(C2orf69):c.280del (p.Glu94fs)	C2orf69 (E94fs)	Deletion (frameshift variant)	Combined oxidative phosphorylation deficiency 53	GPathogenic
Select item 870947	NM_153689.6(C2orf69):c.298del (p.Gln100fs)	C2orf69 (Q100fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 809136	NM_153689.6(C2orf69):c.301C>G (p.His101Asp)	C2orf69 (H101D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3351071	NM_153689.6(C2orf69):c.309C>T (p.Val103=)	C2orf69	Single nucleotide variant (synonymous variant)	C2orf69-related disorder	GLikely benign
Select item 1177457	NM_153689.6(C2orf69):c.311_313del (p.Leu104_Tyr105delinsHis)	C2orf69	Deletion (inframe_indel)	Combined oxidative phosphorylation deficiency 53	GPathogenic
Select item 1810519	NM_153689.6(C2orf69):c.320C>G (p.Pro107Arg)	C2orf69 (P107R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2651808	NM_153689.6(C2orf69):c.375A>G (p.Gln125=)	C2orf69	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3042594	NM_153689.6(C2orf69):c.430A>T (p.Asn144Tyr)	C2orf69 (N144Y)	Single nucleotide variant (missense variant)	C2orf69-related disorder	GLikely benign
Select item 1177456	NM_153689.6(C2orf69):c.588_592del (p.Asn196fs)	C2orf69 (N196fs)	Microsatellite (frameshift variant)	Combined oxidative phosphorylation deficiency 53	GPathogenic
Select item 1177454	NM_153689.6(C2orf69):c.843_847del (p.Lys282fs)	C2orf69 (K282fs)	Deletion (frameshift variant)	Combined oxidative phosphorylation deficiency 53	GPathogenic
Select item 1177458	NM_153689.6(C2orf69):c.909_925del (p.Ser304fs)	C2orf69 (S304fs)	Deletion (frameshift variant)	Combined oxidative phosphorylation deficiency 53	GPathogenic
Select item 1177459	NM_153689.6(C2orf69):c.929G>A (p.Trp310Ter)	C2orf69 (W310*)	Single nucleotide variant (nonsense)	Combined oxidative phosphorylation deficiency 53	GPathogenic
Select item 2307552	NM_153689.6(C2orf69):c.931G>A (p.Val311Ile)	C2orf69 (V311I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 1879515	NM_153689.6(C2orf69):c.1010G>A (p.Arg337His)	C2orf69 (R337H)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3062594	GRCh37/hg19 2q32.3-34(chr2:194305623-215261531)x1	ABI2, ACADL +95 more	Copy number loss	not specified	GPathogenic
Select item 2580353	GRCh37/hg19 2q32.1-36.1(chr2:186698504-223918111)x3	AAMP, ABCA12 +208 more	Copy number gain	See cases	GPathogenic
Select item 1808483	GRCh37/hg19 2q32.2-34(chr2:189909904-209468383)x1	ABI2, ADAM23 +107 more	Copy number loss	not provided	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 1703524	GRCh37/hg19 2q32.1-34(chr2:185697659-213002074)	ABI2, ACADL +127 more	Copy number loss	Chromosome 2q32-q33 deletion syndrome	GPathogenic
Select item 1526940	GRCh37/hg19 2q33.1(chr2:197586481-200793870)	ANKRD44, BOLL +16 more	Copy number loss	not specified	GPathogenic
Select item 1526933	GRCh37/hg19 2q31.1-35(chr2:169829974-215521436)	AGPS, ANKAR +217 more	Copy number gain	not specified	GPathogenic
Select item 983310	GRCh37/hg19 2q32.3-33.1(chr2:197359024-201383462)x1	PGAP1, PLCL1 +20 more	Copy number loss	Chromosome 2q32-q33 deletion syndrome	GPathogenic
Select item 983184	GRCh37/hg19 2q31.2-37.3(chr2:178397959-243007457)x3	AAMP, ABCA12 +384 more	Copy number gain	See cases	GPathogenic
Select item 814337	GRCh37/hg19 2q24.2-34(chr2:163233162-211927188)x3	CASP8, CAVIN2 +233 more	Copy number gain	not provided	GPathogenic
Select item 687824	GRCh37/hg19 2q33.1(chr2:198852970-201350417)x1	C2orf69, FTCDNL1 +5 more	Copy number loss	not provided	GPathogenic
Select item 635897	Single allele	ACSL3, ADAM23 +208 more	Duplication	Neurodevelopmental disorder	GPathogenic
Select item 562676	GRCh37/hg19 2q32.2-33.1(chr2:191750202-202297376)x1	ANKRD44, AOX1 +45 more	Copy number loss	not provided	GPathogenic
Select item 562673	GRCh37/hg19 2q32.3-33.1(chr2:193537927-202027736)x1	HSPD1, DNAH7 +34 more	Copy number loss	not provided	GPathogenic
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 394652	GRCh37/hg19 2q32.3-33.1(chr2:194581315-201752422)x1	ANKRD44, AOX1 +28 more	Copy number loss	See cases	GPathogenic
Select item 253679	GRCh37/hg19 2q33.1(chr2:200776457-203070949)x3	ALS2, AOX1 +25 more	Copy number gain	See cases	GUncertain significance
Select item 253668	GRCh37/hg19 2q32.3-33.1(chr2:196581377-200947041)x1	C2orf66, BOLL +21 more	Copy number loss	See cases	GPathogenic
Select item 221794	GRCh37/hg19 2q33.1(chr2:200250898-201845999)x3	NIF3L1, KCTD18 +13 more	Copy number gain	Premature ovarian failure	GUncertain significance

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Items: 53