CD248[gene] - ClinVar

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Items: 77

	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 644273	NC_000011.9:g.(?_65633902)_(66115026_?)dup	B4GAT1, BRMS1 +72 more	Duplication	Cutis laxa, autosomal recessive, type 1B	GUncertain significance
Select item 59757	GRCh38/hg38 11q13.2(chr11:66193502-67890770)x3	ACTN3, ACY3 +212 more	Copy number gain	See cases	GPathogenic
Select item 3140474	NM_020404.3(CD248):c.2227C>T (p.Pro743Ser)	CD248 (P743S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222754	NM_020404.3(CD248):c.2162G>A (p.Arg721His)	CD248 (R721H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2397109	NM_020404.3(CD248):c.2148T>G (p.His716Gln)	CD248 (H716Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140473	NM_020404.3(CD248):c.2141G>A (p.Gly714Asp)	CD248 (G714D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264786	NM_020404.3(CD248):c.2134C>A (p.Arg712Ser)	CD248 (R712S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271677	NM_020404.3(CD248):c.2134C>T (p.Arg712Cys)	CD248 (R712C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488575	NM_020404.3(CD248):c.2080C>A (p.Pro694Thr)	CD248 (P694T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140471	NM_020404.3(CD248):c.2042A>G (p.Gln681Arg)	CD248 (Q681R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 721839	NM_020404.3(CD248):c.2031C>T (p.Ala677=)	CD248	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2493723	NM_020404.3(CD248):c.2020G>C (p.Ala674Pro)	CD248 (A674P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226626	NM_020404.3(CD248):c.1966G>A (p.Ala656Thr)	CD248 (A656T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140470	NM_020404.3(CD248):c.1961A>C (p.Lys654Thr)	CD248 (K654T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140469	NM_020404.3(CD248):c.1840C>A (p.Pro614Thr)	CD248 (P614T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 786197	NM_020404.3(CD248):c.1794C>T (p.Ser598=)	CD248	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 730132	NM_020404.3(CD248):c.1759A>C (p.Thr587Pro)	CD248 (T587P)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2603389	NM_020404.3(CD248):c.1750A>G (p.Ile584Val)	CD248 (I584V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493722	NM_020404.3(CD248):c.1709C>T (p.Pro570Leu)	CD248 (P570L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 707881	NM_020404.3(CD248):c.1707C>G (p.Ala569=)	CD248	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2295378	NM_020404.3(CD248):c.1705G>A (p.Ala569Thr)	CD248 (A569T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2478465	NM_020404.3(CD248):c.1637A>G (p.His546Arg)	CD248 (H546R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140468	NM_020404.3(CD248):c.1609C>T (p.Arg537Trp)	CD248 (R537W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457804	NM_020404.3(CD248):c.1595T>A (p.Met532Lys)	CD248 (M532K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140466	NM_020404.3(CD248):c.1474C>G (p.Leu492Val)	CD248 (L492V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 774476	NM_020404.3(CD248):c.1456G>A (p.Ala486Thr)	CD248 (A486T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 776628	NM_020404.3(CD248):c.1455C>T (p.Ile485=)	CD248	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3140465	NM_020404.3(CD248):c.1392C>G (p.His464Gln)	CD248 (H464Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221647	NM_020404.3(CD248):c.1361C>A (p.Ser454Tyr)	CD248 (S454Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140464	NM_020404.3(CD248):c.1351G>A (p.Val451Met)	CD248 (V451M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381408	NM_020404.3(CD248):c.1348C>T (p.Pro450Ser)	CD248 (P450S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 785358	NM_020404.3(CD248):c.1341C>T (p.Val447=)	CD248	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 718523	NM_020404.3(CD248):c.1236G>A (p.Pro412=)	CD248	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 785359	NM_020404.3(CD248):c.1230T>C (p.Tyr410=)	CD248	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3140463	NM_020404.3(CD248):c.1169C>T (p.Thr390Met)	CD248 (T390M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 785360	NM_020404.3(CD248):c.1137C>T (p.Asp379=)	CD248	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2323969	NM_020404.3(CD248):c.1127A>C (p.Glu376Ala)	CD248 (E376A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 770401	NM_020404.3(CD248):c.908C>T (p.Ala303Val)	CD248 (A303V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2368581	NM_020404.3(CD248):c.859G>A (p.Gly287Ser)	CD248 (G287S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140476	NM_020404.3(CD248):c.836C>T (p.Pro279Leu)	CD248 (P279L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467627	NM_020404.3(CD248):c.814G>A (p.Glu272Lys)	CD248 (E272K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399901	NM_020404.3(CD248):c.790C>G (p.Leu264Val)	CD248 (L264V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348599	NM_020404.3(CD248):c.760G>A (p.Val254Met)	CD248 (V254M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464259	NM_020404.3(CD248):c.506A>T (p.Asp169Val)	CD248 (D169V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605427	NM_020404.3(CD248):c.472T>C (p.Phe158Leu)	CD248 (F158L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315652	NM_020404.3(CD248):c.421C>T (p.Arg141Cys)	CD248 (R141C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259865	NM_020404.3(CD248):c.403G>A (p.Glu135Lys)	CD248 (E135K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140475	NM_020404.3(CD248):c.350G>T (p.Trp117Leu)	CD248 (W117L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264785	NM_020404.3(CD248):c.335C>T (p.Thr112Met)	CD248 (T112M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264784	NM_020404.3(CD248):c.317C>G (p.Thr106Ser)	CD248 (T106S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 707892	NM_020404.3(CD248):c.303C>T (p.Arg101=)	CD248	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2377586	NM_020404.3(CD248):c.281G>A (p.Cys94Tyr)	CD248 (C94Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253167	NM_020404.3(CD248):c.269A>G (p.Gln90Arg)	CD248 (Q90R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 786597	NM_020404.3(CD248):c.255C>T (p.Ile85=)	CD248	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2350715	NM_020404.3(CD248):c.241C>T (p.Arg81Trp)	CD248 (R81W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140472	NM_020404.3(CD248):c.206G>A (p.Arg69His)	CD248 (R69H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460142	NM_020404.3(CD248):c.159G>C (p.Glu53Asp)	CD248 (E53D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140467	NM_020404.3(CD248):c.157G>A (p.Glu53Lys)	CD248 (E53K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605122	NM_020404.3(CD248):c.118C>T (p.Arg40Trp)	CD248 (R40W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264787	NM_020404.3(CD248):c.112T>A (p.Phe38Ile)	CD248 (F38I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388103	NM_020404.3(CD248):c.94A>G (p.Ser32Gly)	CD248 (S32G)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3140462	NM_020404.3(CD248):c.10C>T (p.Arg4Cys)	CD248, LOC130006115 (R4C)	Single nucleotide variant (missense variant)	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 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 563824	GRCh37/hg19 11q13.2(chr11:65906060-66086140)x1	YIF1A, CD248 +5 more	Copy number loss	not provided	GUncertain significance
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: 77