ClinVar for Gene (Select 921) - ClinVar

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Links from Gene

Items: 48

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3264851	NM_014207.4(CD5):c.1418A>G (p.His473Arg)	CD5 (H416R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264850	NM_014207.4(CD5):c.553A>G (p.Ile185Val)	CD5 (I185V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264849	NM_014207.4(CD5):c.1186G>A (p.Val396Met)	CD5 (V396M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140615	NM_014207.4(CD5):c.848G>C (p.Ser283Thr)	CD5 (S283T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140614	NM_014207.4(CD5):c.704T>C (p.Ile235Thr)	CD5 (I235T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140613	NM_014207.4(CD5):c.446C>A (p.Thr149Lys)	CD5 (T92K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140612	NM_014207.4(CD5):c.301C>G (p.Pro101Ala)	CD5 (P101A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140611	NM_014207.4(CD5):c.1475C>T (p.Ala492Val)	CD5 (A492V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140610	NM_014207.4(CD5):c.1345G>A (p.Val449Met)	CD5 (V392M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140609	NM_014207.4(CD5):c.125C>T (p.Ser42Leu)	CD5 (S42L)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3140608	NM_014207.4(CD5):c.1168C>G (p.Leu390Val)	CD5 (L390V +1 more)	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 3063189	GRCh37/hg19 11p11.12-q13.1(chr11:50398499-63924462)x3	AHNAK, APLNR +225 more	Copy number gain	not specified	GLikely pathogenic
Select item 2688730	NM_014207.4(CD5):c.1108C>G (p.Pro370Ala)	CD5 (P313A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2641819	NM_014207.4(CD5):c.519G>T (p.Val173=)	CD5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2621796	NM_014207.4(CD5):c.1301C>T (p.Thr434Met)	CD5 (T434M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601070	NM_014207.4(CD5):c.301C>T (p.Pro101Ser)	CD5 (P44S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600245	NM_014207.4(CD5):c.842G>A (p.Gly281Asp)	CD5 (G224D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539548	NM_014207.4(CD5):c.983G>A (p.Arg328Gln)	CD5 (R328Q +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2518735	NM_014207.4(CD5):c.247C>T (p.Arg83Trp)	CD5 (R26W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508465	NM_014207.4(CD5):c.793C>G (p.Leu265Val)	CD5 (L208V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456140	NM_014207.4(CD5):c.1292G>A (p.Arg431His)	CD5 (R374H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2425028	NC_000011.9:g.(?_58916346)_(64972349_?)dup	AHNAK, ARL2 +182 more	Duplication	Leukocyte adhesion deficiency 3	GUncertain significance
Select item 2410091	NM_014207.4(CD5):c.723C>G (p.Asn241Lys)	CD5 (N184K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408025	NM_014207.4(CD5):c.173T>A (p.Met58Lys)	CD5 (M58K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2402012	NM_014207.4(CD5):c.163G>A (p.Gly55Arg)	CD5 (G55R)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2376951	NM_014207.4(CD5):c.1244G>A (p.Arg415His)	CD5 (R415H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376605	NM_014207.4(CD5):c.1334C>T (p.Thr445Ile)	CD5 (T388I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362147	NM_014207.4(CD5):c.1405G>A (p.Glu469Lys)	CD5 (E469K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355848	NM_014207.4(CD5):c.1013G>A (p.Arg338Gln)	CD5 (R281Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353696	NM_014207.4(CD5):c.437C>T (p.Pro146Leu)	CD5 (P146L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347580	NM_014207.4(CD5):c.1393T>C (p.Tyr465His)	CD5 (Y408H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309150	NM_014207.4(CD5):c.202T>G (p.Ser68Ala)	CD5 (S11A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2256547	NM_014207.4(CD5):c.1366C>T (p.Pro456Ser)	CD5 (P456S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2229064	NM_014207.4(CD5):c.868G>A (p.Glu290Lys)	CD5 (E233K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209862	NM_014207.4(CD5):c.115C>T (p.Arg39Cys)	CD5 (R39C)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2204588	NM_014207.4(CD5):c.517G>A (p.Val173Met)	CD5 (V116M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1707422	GRCh37/hg19 11p11.2-q12.2(chr11:51581311-54891247)x3	ACP2, ACCS +216 more	Copy number gain	See cases	GPathogenic
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	MAML2, MAP3K11 +955 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1268377	NM_014207.4(CD5):c.1412C>T (p.Ala471Val)	CD5 (A414V +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1226331	NM_014207.4(CD5):c.671C>T (p.Pro224Leu)	CD5 (P167L +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 997825	Single allele	MMP13, MMP20 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 815435	GRCh37/hg19 11q12.2-12.3(chr11:60385382-62456278)x3	CD5, CD6 +58 more	Copy number gain	not provided	GUncertain significance
Select item 687991	GRCh37/hg19 11q12.2(chr11:60499486-61529578)x3	CCDC86, CD5 +27 more	Copy number gain	not provided	GUncertain significance
Select item 563873	GRCh37/hg19 11q12.1-12.3(chr11:58935215-62177656)x3	ASRGL1, BEST1 +72 more	Copy number gain	not provided	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

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Links from Gene

Items: 48