ClinVar for Gene (Select 4818) - ClinVar

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Links from Gene

Items: 38

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3299872	NM_005601.4(NKG7):c.209T>C (p.Leu70Pro)	NKG7 (L70P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3299871	NM_005601.4(NKG7):c.51G>A (p.Met17Ile)	NKG7 (M17I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3200297	NM_005601.4(NKG7):c.491C>T (p.Thr164Ile)	NKG7 (T164I)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3200296	NM_005601.4(NKG7):c.371A>G (p.Gln124Arg)	NKG7 (R118G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200294	NM_005601.4(NKG7):c.217G>A (p.Val73Met)	NKG7 (V73M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3200293	NM_005601.4(NKG7):c.173C>T (p.Thr58Met)	NKG7 (T58M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2684892	GRCh37/hg19 19q13.33-13.43(chr19:49625130-57647352)x3	ACP4, ADM5 +261 more	Copy number gain	not provided	GLikely pathogenic
Select item 2552573	NM_005601.4(NKG7):c.451C>A (p.Leu151Met)	NKG7 (L151M)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2513563	NM_005601.4(NKG7):c.259C>G (p.Pro87Ala)	NKG7 (P87A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2471501	NM_005601.4(NKG7):c.289G>A (p.Ala97Thr)	NKG7 (A97T +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2424337	NC_000019.9:g.(?_51727962)_(51890697_?)del	CD33, CLDND2 +6 more	Deletion	Multiple acyl-CoA dehydrogenase deficiency	GPathogenic
Select item 2411332	NM_005601.4(NKG7):c.316G>T (p.Val106Leu)	NKG7 (V106L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375226	NM_005601.4(NKG7):c.188T>A (p.Ile63Asn)	NKG7 (I63N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2372570	NM_005601.4(NKG7):c.149T>C (p.Ile50Thr)	NKG7 (I50T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318814	NM_005601.4(NKG7):c.398T>C (p.Phe133Ser)	NKG7 (F133S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272775	NM_005601.4(NKG7):c.454G>T (p.Gly152Cys)	NKG7 (G152C)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2264929	NM_005601.4(NKG7):c.475C>G (p.Arg159Gly)	NKG7 (R159G)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2239626	NM_005601.4(NKG7):c.34G>A (p.Gly12Ser)	NKG7 (G12S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226220	NM_005601.4(NKG7):c.316G>C (p.Val106Leu)	NKG7 (W99C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205077	NM_005601.4(NKG7):c.63T>G (p.Ile21Met)	NKG7 (I21M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1526670	GRCh37/hg19 19q13.33-13.41(chr19:49911081-53127438)	FPR3, ZNF577 +115 more	Copy number gain	not specified	GLikely pathogenic
Select item 1340619	GRCh37/hg19 19q13.41(chr19:51769834-52415762)x3	CEACAM18, CLDND2 +21 more	Copy number gain	not provided	GUncertain significance
Select item 980768	GRCh37/hg19 19q13.33-13.43(chr19:48463931-57095254)x3	PPP1R15A, PPP2R1A +308 more	Copy number gain	not provided	GPathogenic
Select item 972980	GRCh37/hg19 19q13.32-13.42(chr19:47939842-54626871)	GRIN2D, GRWD1 +228 more	Copy number gain	not provided	Gnot provided
Select item 816089	GRCh37/hg19 19q13.33-13.41(chr19:50469730-51916485)x3	ACP4, ASPDH +46 more	Copy number gain	not provided	GUncertain significance
Select item 816084	GRCh37/hg19 19q13.31-13.42(chr19:44738088-53621561)x3	C5AR1, C5AR2 +293 more	Copy number gain	not provided	GPathogenic
Select item 782658	NM_005601.4(NKG7):c.158-4T>A	NKG7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 769045	NM_005601.4(NKG7):c.337A>G (p.Thr113Ala)	NKG7 (T113A)	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	PGLYRP1, PGLYRP2 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	TMC4, TMED1 +1364 more	Copy number gain	See cases	GPathogenic
Select item 394342	GRCh37/hg19 19q13.33-13.43(chr19:50489390-59095359)x3	A1BG, ACP4 +280 more	Copy number gain	See cases	GPathogenic
Select item 155383	GRCh38/hg38 19q13.41(chr19:51202361-51993020)x3	C19orf84, CD33 +62 more	Copy number gain	See cases	GUncertain significance
Select item 146579	GRCh38/hg38 19q13.33-13.43(chr19:50152520-58581203)x3	OSCAR, PEG3 +782 more	Copy number gain	See cases	GPathogenic
Select item 59127	GRCh38/hg38 19q13.41-13.43(chr19:51141518-58539965)x3	A1BG, A1BG-AS1 +647 more	Copy number gain	See cases	GPathogenic
Select item 59126	GRCh38/hg38 19q13.33-13.43(chr19:49907832-58557889)x3	LOC130065082, LOC130065083 +806 more	Copy number gain	See cases	GPathogenic
Select item 59117	GRCh38/hg38 19q13.33-13.43(chr19:47929575-58572206)x3	LOC130064903, LOC130064904 +1093 more	Copy number gain	See cases	GPathogenic
Select item 59116	GRCh38/hg38 19q13.33-13.43(chr19:47908540-58539965)x3	LOC130064925, LOC130064926 +1081 more	Copy number gain	See cases	GPathogenic
Select item 57219	GRCh38/hg38 19q13.33-13.43(chr19:50191219-58535818)x3	LOC130065034, LOC130065035 +761 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 38