ClinVar for Gene (Select 3959) - ClinVar

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Links from Gene

Items: 70

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3290519	NM_005567.4(LGALS3BP):c.1628C>A (p.Ala543Glu)	LGALS3BP (A543E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3290518	NM_005567.4(LGALS3BP):c.869T>C (p.Leu290Ser)	LGALS3BP (L290S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3290517	NM_005567.4(LGALS3BP):c.1028T>C (p.Val343Ala)	LGALS3BP (V343A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3290516	NM_005567.4(LGALS3BP):c.11C>T (p.Pro4Leu)	LGALS3BP (P4L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3290514	NM_005567.4(LGALS3BP):c.251G>A (p.Gly84Asp)	LGALS3BP (G84D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3242941	NC_000017.10:g.(?_76109229)_(78367298_?)dup	AFMID, BIRC5 +29 more	Duplication	Idiopathic generalized epilepsy	GUncertain significance
Select item 3118465	NM_005567.4(LGALS3BP):c.996G>C (p.Glu332Asp)	LGALS3BP (E332D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3118464	NM_005567.4(LGALS3BP):c.952G>A (p.Glu318Lys)	LGALS3BP (E318K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3118463	NM_005567.4(LGALS3BP):c.824T>A (p.Leu275Gln)	LGALS3BP (L275Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3118462	NM_005567.4(LGALS3BP):c.7C>T (p.Pro3Ser)	LGALS3BP (P3S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3118461	NM_005567.4(LGALS3BP):c.649A>G (p.Ile217Val)	LGALS3BP (I217V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3118459	NM_005567.4(LGALS3BP):c.479A>C (p.Asn160Thr)	LGALS3BP (N160T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3118458	NM_005567.4(LGALS3BP):c.206A>T (p.Asn69Ile)	LGALS3BP (N69I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3118457	NM_005567.4(LGALS3BP):c.1606G>A (p.Asp536Asn)	LGALS3BP (D536N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3118456	NM_005567.4(LGALS3BP):c.1538A>C (p.Asp513Ala)	LGALS3BP (D513A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3118455	NM_005567.4(LGALS3BP):c.1105C>T (p.His369Tyr)	LGALS3BP (H369Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2684858	GRCh37/hg19 17q25.3(chr17:76905755-77611113)x3	C1QTNF1, CANT1 +4 more	Copy number gain	not provided	GUncertain significance
Select item 2616856	NM_005567.4(LGALS3BP):c.998G>A (p.Arg333His)	LGALS3BP (R333H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2562538	NM_005567.4(LGALS3BP):c.1274C>T (p.Ala425Val)	LGALS3BP (A425V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553911	NM_005567.4(LGALS3BP):c.1747G>T (p.Gly583Cys)	LGALS3BP (G583C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545360	NM_005567.4(LGALS3BP):c.1688C>T (p.Ala563Val)	LGALS3BP (A563V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492564	NM_005567.4(LGALS3BP):c.997C>T (p.Arg333Cys)	LGALS3BP (R333C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472212	NM_005567.4(LGALS3BP):c.906C>A (p.Asp302Glu)	LGALS3BP (D302E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470808	NM_005567.4(LGALS3BP):c.851C>T (p.Ala284Val)	LGALS3BP (A284V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454834	NM_005567.4(LGALS3BP):c.304G>A (p.Asp102Asn)	LGALS3BP (D102N)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2426801	NC_000017.10:g.(?_76851749)_(78367298_?)dup	C1QTNF1, CANT1 +16 more	Duplication	Pityriasis rubra pilaris +1 more	GUncertain significance
Select item 2408110	NM_005567.4(LGALS3BP):c.1600G>A (p.Val534Ile)	LGALS3BP (V534I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395048	NM_005567.4(LGALS3BP):c.460G>A (p.Asp154Asn)	LGALS3BP (D154N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384221	NM_005567.4(LGALS3BP):c.1348C>A (p.Pro450Thr)	LGALS3BP (P450T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356153	NM_005567.4(LGALS3BP):c.336C>G (p.Asn112Lys)	LGALS3BP (N112K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342685	NM_005567.4(LGALS3BP):c.1646A>C (p.Asp549Ala)	LGALS3BP (D549A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324991	NM_005567.4(LGALS3BP):c.1541G>A (p.Arg514His)	LGALS3BP (R514H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317506	NM_005567.4(LGALS3BP):c.430G>T (p.Gly144Cys)	LGALS3BP (G144C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316916	NM_005567.4(LGALS3BP):c.1414C>A (p.Gln472Lys)	LGALS3BP (Q472K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307010	NM_005567.4(LGALS3BP):c.91G>T (p.Ala31Ser)	LGALS3BP (A31S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303168	NM_005567.4(LGALS3BP):c.1208C>T (p.Thr403Ile)	LGALS3BP (T403I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254979	NM_005567.4(LGALS3BP):c.92C>T (p.Ala31Val)	LGALS3BP (A31V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2230053	NM_005567.4(LGALS3BP):c.484C>A (p.Gln162Lys)	LGALS3BP (Q162K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2227295	NM_005567.4(LGALS3BP):c.817G>A (p.Ala273Thr)	LGALS3BP (A273T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 1701331	GRCh37/hg19 17q25.1-25.3(chr17:73481509-81043199)x3	CANT1, FAAP100 +146 more	Copy number gain	not provided	GPathogenic
Select item 1526587	GRCh37/hg19 17q25.3(chr17:76770309-77174429)	C1QTNF1, CANT1 +6 more	Copy number gain	not specified	GUncertain significance
Select item 1340469	GRCh37/hg19 17q25.3(chr17:76852379-77297300)x3	C1QTNF1, CANT1 +4 more	Copy number gain	not provided	GUncertain significance
Select item 980730	GRCh37/hg19 17q25.3(chr17:76852029-77297898)x3	C1QTNF1, CANT1 +4 more	Copy number gain	not provided	GUncertain significance
Select item 815953	GRCh37/hg19 17q25.1-25.3(chr17:73261871-78608763)x3	AANAT, ACOX1 +84 more	Copy number gain	not provided	GPathogenic
Select item 791457	NM_005567.4(LGALS3BP):c.1307G>C (p.Arg436Pro)	LGALS3BP (R436P)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 738628	NM_005567.4(LGALS3BP):c.420G>T (p.Ser140=)	LGALS3BP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 737487	NM_005567.4(LGALS3BP):c.1178G>A (p.Arg393Gln)	LGALS3BP (R393Q)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 726894	NM_005567.4(LGALS3BP):c.282G>A (p.Thr94=)	LGALS3BP	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 711213	NM_005567.4(LGALS3BP):c.999T>C (p.Arg333=)	LGALS3BP	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 711212	NM_005567.4(LGALS3BP):c.1107C>T (p.His369=)	LGALS3BP	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 711190	NM_005567.4(LGALS3BP):c.1611C>T (p.Phe537=)	LGALS3BP	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 689209	GRCh37/hg19 17q24.1-25.3(chr17:62778720-81041938)x3	AANAT, AATK +226 more	Copy number gain	not provided	GPathogenic
Select item 686455	GRCh37/hg19 17q25.3(chr17:76857398-77308782)x3	C1QTNF1, CANT1 +4 more	Copy number gain	not provided	GUncertain significance
Select item 686443	GRCh37/hg19 17q25.3(chr17:76857398-77308782)x3	C1QTNF1, CANT1 +4 more	Copy number gain	not provided	GUncertain significance
Select item 564477	GRCh37/hg19 17q25.3(chr17:76676371-77287185)x3	CANT1, CYTH1 +6 more	Copy number gain	not provided	GUncertain significance
Select item 564476	GRCh37/hg19 17q25.3(chr17:76552611-81041938)x3	AATK, ACTG1 +88 more	Copy number gain	not provided	GLikely pathogenic
Select item 564475	GRCh37/hg19 17q25.3(chr17:76470653-77095130)x4	DNAH17, TIMP2 +7 more	Copy number gain	not provided	GUncertain significance
Select item 564463	GRCh37/hg19 17q24.1-25.3(chr17:63689671-81041938)x3	AANAT, AATK +222 more	Copy number gain	not provided	GPathogenic
Select item 443488	GRCh37/hg19 17q24.2-25.3(chr17:67002415-81041938)x3	AANAT, AATK +202 more	Copy number gain	See cases	GPathogenic
Select item 443446	GRCh37/hg19 17q25.1-25.3(chr17:73951701-81041938)x3	AANAT, AATK +128 more	Copy number gain	See cases	GPathogenic
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	ALOX12, ALOX12B +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	SPEM2, TBCD +1143 more	Copy number gain	See cases	GPathogenic
Select item 395646	GRCh37/hg19 17q21.31-25.3(chr17:42580684-81085615)x3	AANAT, AATK +458 more	Copy number gain	See cases	GPathogenic
Select item 155275	GRCh38/hg38 17q24.3-25.3(chr17:69916435-83102552)x3	AANAT, AATK +1013 more	Copy number gain	See cases	GPathogenic
Select item 153374	GRCh38/hg38 17q25.3(chr17:78484862-79436025)x4	C1QTNF1, C1QTNF1-AS1 +55 more	Copy number gain	See cases	GUncertain significance
Select item 146403	GRCh38/hg38 17q25.3(chr17:78225356-80099979)x1	TIMP2, TMEM235 +144 more	Copy number loss	See cases	GLikely pathogenic
Select item 58714	GRCh38/hg38 17q25.3(chr17:78918650-83021095)x3	AATK, ACTG1 +385 more	Copy number gain	See cases	GPathogenic
Select item 58703	GRCh38/hg38 17q24.3-25.3(chr17:69209079-83086677)x3	MIR636, MIR6516 +1033 more	Copy number gain	See cases	GPathogenic
Select item 57263	GRCh38/hg38 17q25.3(chr17:78901959-83086677)x3	AATK, ACTG1 +387 more	Copy number gain	See cases	GPathogenic
Select item 57076	GRCh38/hg38 17q25.3(chr17:78092236-83086677)x3	AATK, ACTG1 +513 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 70