ClinVar for Gene (Select 3820) - ClinVar

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Links from Gene

Items: 55

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3289103	NM_002258.3(KLRB1):c.429C>G (p.Asn143Lys)	KLRB1 (N143K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3289102	NM_002258.3(KLRB1):c.266C>T (p.Pro89Leu)	KLRB1 (P89L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3289101	NM_002258.3(KLRB1):c.136G>A (p.Ala46Thr)	KLRB1 (A46T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3289100	NM_002258.3(KLRB1):c.249T>G (p.Asn83Lys)	KLRB1 (N83K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3289099	NM_002258.3(KLRB1):c.406G>A (p.Asp136Asn)	KLRB1 (D136N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115911	NM_002258.3(KLRB1):c.383G>C (p.Ser128Thr)	KLRB1 (S128T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115910	NM_002258.3(KLRB1):c.253A>C (p.Thr85Pro)	KLRB1 (T85P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115909	NM_002258.3(KLRB1):c.246G>C (p.Arg82Ser)	KLRB1 (R82S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115908	NM_002258.3(KLRB1):c.172T>A (p.Leu58Met)	KLRB1 (L58M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115907	NM_002258.3(KLRB1):c.149T>C (p.Leu50Pro)	KLRB1 (L50P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063250	GRCh37/hg19 12p13.33-11.1(chr12:173786-34835641)x3	A2M, A2ML1 +278 more	Copy number gain	not specified	GPathogenic
Select item 2671607	Single allele	FGD4, FGF23 +278 more	Duplication	not provided	GPathogenic
Select item 2642697	NM_002258.3(KLRB1):c.73T>A (p.Ser25Thr)	KLRB1 (S25T)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2603569	NM_002258.3(KLRB1):c.209C>T (p.Ser70Leu)	KLRB1 (S70L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602723	NM_002258.3(KLRB1):c.174G>T (p.Leu58Phe)	KLRB1 (L58F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525017	NM_002258.3(KLRB1):c.275T>C (p.Leu92Ser)	KLRB1 (L92S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2496179	NM_002258.3(KLRB1):c.300A>C (p.Gln100His)	KLRB1 (Q100H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480087	NM_002258.3(KLRB1):c.461T>C (p.Ile154Thr)	KLRB1 (I154T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464533	NM_002258.3(KLRB1):c.118G>T (p.Ala40Ser)	KLRB1 (A40S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460781	NM_002258.3(KLRB1):c.73T>C (p.Ser25Pro)	KLRB1 (S25P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2445417	GRCh37/hg19 12p13.33-11.1(chr12:176047-34179852)x4	DENND5B, DERA +278 more	Copy number gain	Pallister-Killian syndrome	GPathogenic
Select item 2401428	NM_002258.3(KLRB1):c.200A>G (p.Gln67Arg)	KLRB1 (Q67R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390055	NM_002258.3(KLRB1):c.74C>A (p.Ser25Tyr)	KLRB1 (S25Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354005	NM_002258.3(KLRB1):c.92G>T (p.Cys31Phe)	KLRB1 (C31F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269354	NM_002258.3(KLRB1):c.641T>G (p.Leu214Arg)	KLRB1 (L214R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1527672	GRCh37/hg19 12p13.33-q11(chr12:173786-37869301)	C3AR1, CACNA1C +278 more	Copy number gain	not specified	GPathogenic
Select item 1527671	GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)	A2M, A2ML1 +278 more	Copy number gain	not specified	GPathogenic
Select item 1527669	GRCh37/hg19 12p13.33-12.1(chr12:173786-25286865)	A2ML1, ABCC9 +235 more	Copy number gain	not specified	GPathogenic
Select item 815493	GRCh37/hg19 12p13.33-q11(chr12:274676-37869301)x4	ART4, DYRK4 +278 more	Copy number gain	not provided	GPathogenic
Select item 737845	NM_002258.3(KLRB1):c.85+8G>A	KLRB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 686501	GRCh37/hg19 12p13.33-11.1(chr12:173786-34496628)x3	CLEC1B, CLEC2A +278 more	Copy number gain	not provided	GPathogenic
Select item 625809	GRCh37/hg19 12p13.33-12.3(chr12:189216-15001420)	A2M, A2ML1 +193 more	Copy number gain	not provided	GPathogenic
Select item 563991	GRCh37/hg19 12p13.33-q11(chr12:173786-37869107)x3	A2M, A2ML1 +278 more	Copy number gain	not provided	GPathogenic
Select item 563990	GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)x3	A2M, A2ML1 +278 more	Copy number gain	not provided	GPathogenic
Select item 563989	GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)x2,3	A2M, A2ML1 +278 more	Copy number gain	not provided	GPathogenic
Select item 443532	GRCh37/hg19 12p13.33-11.22(chr12:173786-28219229)x3	A2M, A2ML1 +256 more	Copy number gain	See cases	GPathogenic
Select item 442150	GRCh37/hg19 12p13.33-11.1(chr12:565369-34835837)x3	KCNA6, KCNJ8 +273 more	Copy number gain	See cases	GLikely pathogenic
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	SLC15A5, SLC16A7 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441823	GRCh37/hg19 12p13.33-13.2(chr12:173786-11677456)x3	A2M, A2ML1 +166 more	Copy number gain	See cases	GPathogenic
Select item 395673	GRCh37/hg19 12p13.33-11.1(chr12:189578-34756150)	A2M, A2ML1 +278 more	Copy number gain	See cases	GPathogenic
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	GALNT8, H2AJ +1007 more	Copy number gain	See cases	GPathogenic
Select item 253582	GRCh37/hg19 12p13.33-11.1(chr12:148034-34178799)x4	ACSM4, CCND2 +278 more	Copy number gain	See cases	GPathogenic
Select item 253493	GRCh37/hg19 12p13.33-11.1(chr12:89061-34178799)x3	A2M, A2ML1 +278 more	Copy number gain	See cases	GPathogenic
Select item 153962	GRCh38/hg38 12p13.33-11.1(chr12:64620-34682902)x4	CLEC12A, CLEC12A-AS1 +1258 more	Copy number gain	See cases	GPathogenic
Select item 153563	GRCh38/hg38 12p13.33-12.2(chr12:1258274-20657577)x3	A2M, A2M-AS1 +853 more	Copy number gain	See cases	GPathogenic
Select item 151004	GRCh38/hg38 12p13.33-11.1(chr12:54427-34608071)x4	TAS2R9, TEAD4 +1258 more	Copy number gain	See cases	GPathogenic
Select item 150877	GRCh38/hg38 12p13.31(chr12:9484719-9667557)x1	KLRB1, LOC105369728 +7 more	Copy number loss	See cases	GLikely benign
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	ACAD10, ACADS +4836 more	Copy number gain	See cases	GPathogenic
Select item 150158	GRCh38/hg38 12p13.33-11.1(chr12:121271-34603261)x3	LOC126861494, LOC126861495 +1257 more	Copy number gain	See cases	GPathogenic
Select item 148626	GRCh38/hg38 12p13.33-12.3(chr12:2871741-14987348)x3	LOC130007190, LOC130007191 +698 more	Copy number gain	See cases	GPathogenic
Select item 147419	GRCh38/hg38 12p13.33-11.1(chr12:121255-34603274)x3	LOC130007230, LOC130007231 +1257 more	Copy number gain	See cases	GPathogenic
Select item 59799	GRCh38/hg38 12p13.33-11.1(chr12:212976-33926913)x4	CACNA1C-AS2, CACNA1C-AS4 +1242 more	Copy number gain	See cases	GPathogenic
Select item 59795	GRCh38/hg38 12p13.33-12.1(chr12:80412-25470329)x3	A2M, A2M-AS1 +1009 more	Copy number gain	See cases	GPathogenic
Select item 59794	GRCh38/hg38 12p13.33-11.1(chr12:77187-34380176)x3	LOC126861410, LOC126861411 +1258 more	Copy number gain	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 55