KLRG2[gene] - ClinVar

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Items: 77

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CUL1, CUX1 +4737 more	Copy number loss	See cases	GPathogenic
Select item 147547	GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3	LOC123956257, LOC123956258 +2213 more	Copy number gain	See cases	GPathogenic
Select item 152912	GRCh38/hg38 7q31.2-36.3(chr7:115459015-159325817)x3	AASS, ABCB8 +1547 more	Copy number gain	See cases	GPathogenic
Select item 149905	GRCh38/hg38 7q31.32-36.3(chr7:121863759-159335865)x3	AASS, ABCB8 +1380 more	Copy number gain	See cases	GPathogenic
Select item 57215	GRCh38/hg38 7q32.1-36.3(chr7:129310166-159282390)x3	ABCB8, ABCF2 +1176 more	Copy number gain	See cases	GPathogenic
Select item 155687	GRCh38/hg38 7q32.3-36.3(chr7:131171478-159327017)x3	PRKAG2, PRKAG2-AS1 +1052 more	Copy number gain	See cases	GPathogenic
Select item 154735	GRCh38/hg38 7q32.3-36.3(chr7:131228764-159335866)x3	LOC129389895, LOC129389896 +1046 more	Copy number gain	See cases	GPathogenic
Select item 155640	GRCh38/hg38 7q32.3-36.3(chr7:132438072-159327017)x3	TRBV27, TRBV28 +1025 more	Copy number gain	See cases	GPathogenic
Select item 150858	GRCh38/hg38 7q32.3-36.3(chr7:132444095-159335866)x3	OR2A2, OR2A25 +1025 more	Copy number gain	See cases	GPathogenic
Select item 57401	GRCh38/hg38 7q32.3-36.3(chr7:132850196-159325876)x3	TRC-GCA9-3, TRC-GCA9-4 +1019 more	Copy number gain	See cases	GPathogenic
Select item 149061	GRCh38/hg38 7q33-36.3(chr7:134666829-158591882)x1	LOC129999635, LOC129999636 +944 more	Copy number loss	See cases	GPathogenic
Select item 149975	GRCh38/hg38 7q33-36.1(chr7:135017687-148807400)x1	TRBC2, TRBD1 +455 more	Copy number loss	See cases	GPathogenic
Select item 60297	GRCh38/hg38 7q33-35(chr7:135414108-144140219)x1	ADCK2, AGK +373 more	Copy number loss	See cases	GPathogenic
Select item 59716	GRCh38/hg38 7q33-36.3(chr7:136309982-159307523)x3	ABCB8, ABCF2 +908 more	Copy number gain	See cases	GPathogenic
Select item 2579170	GRCh38/hg38 7q33-36.3(chr7:137463392-159345973)x3	EPHA1-AS1, EPHB6 +888 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 60298	GRCh38/hg38 7q33-34(chr7:137741740-139688885)x1	AKR1D1, ATP6V0A4 +88 more	Copy number loss	See cases	GPathogenic
Select item 147398	GRCh38/hg38 7q33-36.2(chr7:137751200-154815582)x3	ABCB8, ABCF2 +692 more	Copy number gain	See cases	GPathogenic
Select item 2579171	GRCh38/hg38 7q34-36.3(chr7:138620939-159233475)x3	LOC129999716, LOC129999717 +847 more	Copy number gain	Neurodevelopmental disorder	GLikely pathogenic
Select item 59694	GRCh38/hg38 7q34(chr7:138795539-140364913)x3	ATP6V0A4, CLEC2L +86 more	Copy number gain	See cases	GUncertain significance
Select item 3289110	NM_198508.4(KLRG2):c.1177G>A (p.Ala393Thr)	KLRG2 (A393T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115941	NM_198508.4(KLRG2):c.1171C>G (p.Leu391Val)	KLRG2 (L391V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115940	NM_198508.4(KLRG2):c.1148G>A (p.Cys383Tyr)	KLRG2 (C383Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345711	NM_198508.4(KLRG2):c.1123G>A (p.Gly375Ser)	KLRG2 (G375S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247019	NM_198508.4(KLRG2):c.1093C>T (p.Pro365Ser)	KLRG2 (P365S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115938	NM_198508.4(KLRG2):c.1037A>G (p.His346Arg)	KLRG2 (H346R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 154270	GRCh38/hg38 7q34(chr7:139476271-140449156)x1	CLEC2L, HIPK2 +53 more	Copy number loss	See cases	GUncertain significance
Select item 3115948	NM_198508.4(KLRG2):c.976G>A (p.Ala326Thr)	KLRG2 (A326T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115947	NM_198508.4(KLRG2):c.937G>T (p.Ala313Ser)	KLRG2 (A313S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209588	NM_198508.4(KLRG2):c.901G>A (p.Glu301Lys)	KLRG2 (E301K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382292	NM_198508.4(KLRG2):c.838G>T (p.Val280Leu)	KLRG2 (V280L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115946	NM_198508.4(KLRG2):c.818C>A (p.Ala273Glu)	KLRG2 (A273E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2568432	NM_198508.4(KLRG2):c.763C>T (p.Pro255Ser)	KLRG2 (P255S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3289112	NM_198508.4(KLRG2):c.641G>C (p.Gly214Ala)	KLRG2 (G214A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115945	NM_198508.4(KLRG2):c.605G>T (p.Arg202Leu)	KLRG2 (R202L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377314	NM_198508.4(KLRG2):c.574C>G (p.Arg192Gly)	KLRG2, LOC129999472 (R192G)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3115943	NM_198508.4(KLRG2):c.514C>A (p.Leu172Met)	KLRG2, LOC129999472 (L172M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333078	NM_198508.4(KLRG2):c.512T>A (p.Leu171His)	KLRG2, LOC129999472 (L171H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379479	NM_198508.4(KLRG2):c.475C>T (p.Pro159Ser)	KLRG2, LOC129999472 (P159S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255440	NM_198508.4(KLRG2):c.445C>G (p.Arg149Gly)	KLRG2, LOC129999472 (R149G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461685	NM_198508.4(KLRG2):c.382G>A (p.Val128Met)	KLRG2, LOC129999472 (V128M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392463	NM_198508.4(KLRG2):c.322G>A (p.Glu108Lys)	KLRG2, LOC129999472 (E108K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3289111	NM_198508.4(KLRG2):c.265G>T (p.Val89Phe)	KLRG2 (V89F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491047	NM_198508.4(KLRG2):c.265G>A (p.Val89Ile)	KLRG2 (V89I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305936	NM_198508.4(KLRG2):c.173C>T (p.Ala58Val)	KLRG2 (A58V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467351	NM_198508.4(KLRG2):c.165G>C (p.Glu55Asp)	KLRG2 (E55D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407746	NM_198508.4(KLRG2):c.158C>T (p.Ala53Val)	KLRG2 (A53V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115939	NM_198508.4(KLRG2):c.103C>A (p.Pro35Thr)	KLRG2 (P35T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295939	NM_198508.4(KLRG2):c.76G>C (p.Val26Leu)	KLRG2 (V26L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269915	NM_198508.4(KLRG2):c.67G>A (p.Gly23Arg)	KLRG2 (G23R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115942	NM_198508.4(KLRG2):c.15G>T (p.Trp5Cys)	KLRG2 (W5C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482953	NM_198508.4(KLRG2):c.10T>G (p.Ser4Ala)	KLRG2 (S4A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3062984	GRCh37/hg19 7q33-36.3(chr7:137456457-159119707)x3	ABCB8, ABCF2 +165 more	Copy number gain	not specified	GPathogenic
Select item 2685271	GRCh37/hg19 7q33-36.3(chr7:135639005-159119707)x1	ARHGEF35, KEL +169 more	Copy number loss	not provided	GPathogenic
Select item 2684505	GRCh37/hg19 7q34(chr7:139097622-139444863)x3	CLEC2L, FMC1-LUC7L2 +2 more	Copy number gain	not provided	GUncertain significance
Select item 2425346	NC_000007.13:g.(?_130781014)_(150301047_?)del	CTAGE6, CTAGE8 +141 more	Deletion	not provided	GPathogenic
Select item 2425073	NC_000007.13:g.(?_138391369)_(141759786_?)del	SSBP1, TAS2R3 +34 more	Deletion	not provided	GPathogenic
Select item 1807754	GRCh37/hg19 7q32.3-36.1(chr7:131779213-149042734)x1	RAB19, RNY1 +123 more	Copy number loss	not provided	GPathogenic
Select item 1708459	GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1	AASS, ABCA13 +896 more	Copy number loss	See cases	GUncertain significance
Select item 1703560	Single allele	CACNA2D1, CADPS2 +896 more	Complex	Ring chromosome 7	GPathogenic
Select item 1527395	GRCh37/hg19 7q32.1-34(chr7:127295698-139524358)	CHCHD3, CHRM2 +88 more	Copy number loss	not specified	GPathogenic
Select item 1450681	NC_000007.13:g.(?_137761265)_(141759786_?)dup	ADCK2, AGK +37 more	Duplication	not provided	GUncertain significance
Select item 1341257	GRCh37/hg19 7q33-36.3(chr7:133851002-159119707)x3	ABCB8, ABCF2 +186 more	Copy number gain	not provided	GPathogenic
Select item 1330183	GRCh37/hg19 7q33-35(chr7:133848099-145814115)x1	EPHA1, EPHB6 +105 more	Copy number loss	Hypertelorism +7 more	GPathogenic
Select item 816507	GRCh37/hg19 7q32.3-36.3(chr7:131414604-159126310)x1	ABCB8, ABCF2 +190 more	Copy number loss	See cases	GPathogenic
Select item 815042	GRCh37/hg19 7q33-34(chr7:135677938-139810886)x1	TRIM24, PARP12 +20 more	Copy number loss	not provided	GPathogenic
Select item 815017	GRCh37/hg19 7q31.1-36.3(chr7:109251060-159119707)x3	CHRM2, KRBA1 +295 more	Copy number gain	not provided	GPathogenic
Select item 688878	GRCh37/hg19 7q32.3-36.3(chr7:130592554-159119707)x3	OR2A25, OR2A42 +192 more	Copy number gain	not provided	GPathogenic
Select item 687427	GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3	PRSS1, PRSS37 +896 more	Copy number gain	not provided	GPathogenic
Select item 625550	GRCh37/hg19 7q32.1-36.3(chr7:128312450-159119220)	ABCB8, ABCF2 +229 more	Copy number gain	not provided	GPathogenic
Select item 617479	Single allele	DGKI, SVOPL +74 more	Complex	Renal transitional cell carcinoma	GLikely pathogenic
Select item 563422	GRCh37/hg19 7q22.1-36.3(chr7:98693388-159119707)x3	AASS, ABCB8 +436 more	Copy number gain	not provided	GPathogenic
Select item 443705	GRCh37/hg19 7q33-34(chr7:137434852-140349546)x3	AKR1D1, ATP6V0A4 +22 more	Copy number gain	See cases	GUncertain significance
Select item 442966	GRCh37/hg19 7q33-36.3(chr7:137917376-159119707)x1	ABCB8, ABCF2 +162 more	Copy number loss	See cases	GPathogenic
Select item 442834	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3	AVL9, AZGP1 +896 more	Copy number gain	See cases	GPathogenic
Select item 442833	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)	MCM7, MDFIC +896 more	Copy number gain	See cases	GPathogenic
Select item 441751	GRCh37/hg19 7q33-36.3(chr7:136758593-159119707)x3	DGKI, DNAJB6 +166 more	Copy number gain	See cases	GPathogenic
Select item 402244	TMEM106B-BRAF fusion	AASS, ABCA13 +678 more	Deletion	Pleomorphic xanthoastrocytoma	GPathogenic

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Items: 77