KLRC4-KLRK1[gene] - ClinVar

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Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 153962	GRCh38/hg38 12p13.33-11.1(chr12:64620-34682902)x4	CLEC12A, CLEC12A-AS1 +1258 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
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 147419	GRCh38/hg38 12p13.33-11.1(chr12:121255-34603274)x3	LOC130007230, LOC130007231 +1257 more	Copy number gain	See cases	GPathogenic
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 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 153563	GRCh38/hg38 12p13.33-12.2(chr12:1258274-20657577)x3	A2M, A2M-AS1 +853 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 146044	GRCh38/hg38 12p13.2(chr12:10273008-10633696)x1	EIF2S3B, KLRC1 +16 more	Copy number loss	See cases	GUncertain significance
Select item 1238157	NM_001199805.1(KLRC4-KLRK1):c.*348C>G	KLRC4-KLRK1, KLRK1 +1 more	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 2459790	NM_007360.4(KLRK1):c.20G>A (p.Arg7Gln)	KLRC4-KLRK1, KLRK1 +1 more (R7Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3289108	NM_001199805.1(KLRC4-KLRK1):c.13C>T (p.Arg5Cys)	KLRC4-KLRK1, KLRK1 +1 more (R5C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115926	NM_013431.2(KLRC4):c.458C>G (p.Thr153Ser)	KLRC4, KLRC4-KLRK1 (T153S)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2278503	NM_013431.2(KLRC4):c.407A>G (p.Lys136Arg)	KLRC4, KLRC4-KLRK1 (K136R)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2515769	NM_013431.2(KLRC4):c.344G>A (p.Arg115His)	KLRC4, KLRC4-KLRK1 (R115H)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 1273274	NM_001199805.1(KLRC4-KLRK1):c.-364A>G	KLRC4, KLRC4-KLRK1 (N104S)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 3115924	NM_013431.2(KLRC4):c.299T>A (p.Leu100Gln)	KLRC4, KLRC4-KLRK1 (L100Q)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2479675	NM_013431.2(KLRC4):c.217G>A (p.Ala73Thr)	KLRC4, KLRC4-KLRK1 (A73T)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2326736	NM_013431.2(KLRC4):c.205G>C (p.Glu69Gln)	KLRC4, KLRC4-KLRK1 (E69Q)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2279040	NM_013431.2(KLRC4):c.188G>T (p.Gly63Val)	KLRC4, KLRC4-KLRK1 (G63V)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2322858	NM_013431.2(KLRC4):c.119A>G (p.Gln40Arg)	KLRC4, KLRC4-KLRK1 (Q40R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2550274	NM_013431.2(KLRC4):c.85A>G (p.Ile29Val)	KLRC4, KLRC4-KLRK1 (I29V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2330918	NM_013431.2(KLRC4):c.65G>C (p.Arg22Thr)	KLRC4, KLRC4-KLRK1 (R22T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3115925	NM_013431.2(KLRC4):c.38T>G (p.Leu13Arg)	KLRC4, KLRC4-KLRK1 (L13R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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Items: 26