ClinVar for Gene (Select 5588) - ClinVar

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Links from Gene

Items: 72

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3341129	NC_000010.11:g.5955208_7871319dup	ATP5F1C, LINC00706 +104 more	Duplication	not provided	GUncertain significance
Select item 3310002	NM_006257.5(PRKCQ):c.1831G>T (p.Val611Leu)	PRKCQ (V486L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3310001	NM_006257.5(PRKCQ):c.1001C>G (p.Pro334Arg)	PRKCQ (P209R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3310000	NM_006257.5(PRKCQ):c.1328A>G (p.His443Arg)	PRKCQ (H318R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218801	NM_006257.5(PRKCQ):c.919A>G (p.Thr307Ala)	PRKCQ (T182A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218800	NM_006257.5(PRKCQ):c.47C>T (p.Ser16Phe)	PRKCQ (S16F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3218799	NM_006257.5(PRKCQ):c.411A>T (p.Glu137Asp)	PRKCQ (E137D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218797	NM_006257.5(PRKCQ):c.378T>A (p.Ser126Arg)	PRKCQ (S126R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3218796	NM_006257.5(PRKCQ):c.2020C>T (p.Arg674Trp)	PRKCQ (R638W +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3218794	NM_006257.5(PRKCQ):c.1705C>T (p.Leu569Phe)	PRKCQ (L444F +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3218793	NM_006257.5(PRKCQ):c.1228G>T (p.Ala410Ser)	PRKCQ (A285S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218791	NM_006257.5(PRKCQ):c.1063A>G (p.Lys355Glu)	PRKCQ (K319E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218790	NM_006257.5(PRKCQ):c.1030A>G (p.Ile344Val)	PRKCQ (I344V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3148909	GRCh37/hg19 10p15.3-14(chr10:1274308-12045503)x3	ADARB2, AKR1C1 +35 more	Copy number gain	See cases	GUncertain significance
Select item 2622989	NM_006257.5(PRKCQ):c.1135G>A (p.Asp379Asn)	PRKCQ (D343N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610723	NM_006257.5(PRKCQ):c.163C>T (p.Pro55Ser)	PRKCQ (P55S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2600754	NM_006257.5(PRKCQ):c.125G>A (p.Gly42Glu)	PRKCQ (G42E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2600412	NM_006257.5(PRKCQ):c.1870G>A (p.Val624Met)	PRKCQ (V588M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595737	NM_006257.5(PRKCQ):c.188A>G (p.His63Arg)	PRKCQ (H63R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2545179	NM_006257.5(PRKCQ):c.352A>C (p.Asn118His)	PRKCQ (N82H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2537193	NM_006257.5(PRKCQ):c.1219G>A (p.Ala407Thr)	PRKCQ (A282T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532501	NM_006257.5(PRKCQ):c.1357A>C (p.Asn453His)	PRKCQ (N453H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481325	NM_006257.5(PRKCQ):c.397G>A (p.Glu133Lys)	PRKCQ (E133K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477784	NM_006257.5(PRKCQ):c.2103G>A (p.Met701Ile)	PRKCQ (M638I +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2408415	NM_006257.5(PRKCQ):c.1904G>A (p.Arg635Gln)	PRKCQ (R635Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405886	NM_006257.5(PRKCQ):c.1599T>G (p.Asp533Glu)	PRKCQ (D497E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404960	NM_006257.5(PRKCQ):c.65G>A (p.Gly22Asp)	PRKCQ (G22D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2404916	NM_006257.5(PRKCQ):c.200G>A (p.Gly67Glu)	PRKCQ (G31E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2385039	NM_006257.5(PRKCQ):c.961C>A (p.Pro321Thr)	PRKCQ (P321T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348910	NM_006257.5(PRKCQ):c.407C>T (p.Thr136Met)	PRKCQ (T11M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330173	NM_006257.5(PRKCQ):c.251A>C (p.Glu84Ala)	PRKCQ (E84A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2305648	NM_006257.5(PRKCQ):c.1045C>T (p.Pro349Ser)	PRKCQ (P224S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301740	NM_006257.5(PRKCQ):c.1651T>G (p.Leu551Val)	PRKCQ (L515V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2295747	NM_006257.5(PRKCQ):c.1774C>G (p.Arg592Gly)	PRKCQ (R592G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2294816	NM_006257.5(PRKCQ):c.943C>G (p.Pro315Ala)	PRKCQ (P190A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237739	NM_006257.5(PRKCQ):c.1222A>G (p.Ile408Val)	PRKCQ (I283V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204848	NM_006257.5(PRKCQ):c.1073A>G (p.His358Arg)	PRKCQ (H233R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1807587	GRCh37/hg19 10p15.3-13(chr10:100027-12648149)x3	CDC123, CELF2 +47 more	Copy number gain	not provided	GUncertain significance
Select item 1527577	GRCh37/hg19 10p15.1-11.21(chr10:6273934-34732521)	ABI1, ACBD5 +111 more	Copy number gain	not specified	GPathogenic
Select item 1527576	GRCh37/hg19 10p15.1(chr10:5952259-6486611)	FBH1, IL15RA +4 more	Copy number gain	not specified	GUncertain significance
Select item 1527575	GRCh37/hg19 10p15.3-14(chr10:2116123-8856296)	AKR1C1, AKR1C2 +29 more	Copy number gain	not specified	GUncertain significance
Select item 1340138	GRCh37/hg19 10p15.1-14(chr10:4927427-6653936)x3	AKR1C1, AKR1C2 +18 more	Copy number gain	not provided	GUncertain significance
Select item 1339781	GRCh37/hg19 10p15.3-q11.22(chr10:135655-47688677)x4	ARL5B, LARP4B +180 more	Copy number gain	Mosaic supernumerary isodicentric chromosome 10	Gnot provided
Select item 1077184	Single allele	AKR1C1, AKR1C2 +30 more	Deletion	not provided	GPathogenic
Select item 784651	NM_006257.5(PRKCQ):c.1326G>A (p.Thr442=)	PRKCQ	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 776493	NM_006257.5(PRKCQ):c.1436C>G (p.Ser479Cys)	PRKCQ (S443C +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 727330	NM_006257.5(PRKCQ):c.640A>G (p.Ile214Val)	PRKCQ (I178V +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 687391	GRCh37/hg19 10p15.3-13(chr10:100026-15273144)x3	ACBD7, ADARB2 +68 more	Copy number gain	not provided	GPathogenic
Select item 687363	GRCh37/hg19 10p15.3-13(chr10:100026-15273144)x3	WDR37, ZMYND11 +68 more	Copy number gain	not provided	GPathogenic
Select item 599307	Single allele	ITIH2, ITIH5 +72 more	Deletion	Hypoparathyroidism, deafness, renal disease syndrome	GPathogenic
Select item 586982	NM_006257.5(PRKCQ):c.989C>T (p.Pro330Leu)	PRKCQ (P205L +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 563726	GRCh37/hg19 10p15.1(chr10:6212015-6469873)x3	PFKFB3, PRKCQ	Copy number gain	not provided	GUncertain significance
Select item 443260	GRCh37/hg19 10p15.3-q11.23(chr10:100026-50961640)x3	ABI1, ACBD5 +205 more	Copy number gain	See cases	GPathogenic
Select item 442589	GRCh37/hg19 10p15.3-13(chr10:100026-12842179)x1	ADARB2, AKR1C1 +47 more	Copy number loss	See cases	GPathogenic
Select item 441987	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)	INA, INPP5A +721 more	Copy number gain	See cases	GPathogenic
Select item 441986	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3	A1CF, ABCC2 +721 more	Copy number gain	See cases	GPathogenic
Select item 395536	GRCh37/hg19 10p15.3-14(chr10:136361-8850609)x1	ADARB2, AKR1C1 +37 more	Copy number loss	See cases	GPathogenic
Select item 393995	GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3	A1CF, ABCC2 +722 more	Copy number gain	See cases	GPathogenic
Select item 253524	GRCh37/hg19 10p15.3-14(chr10:2593113-8484746)x1	AKR1E2, GATA3 +29 more	Copy number loss	See cases	GPathogenic
Select item 155636	GRCh38/hg38 10p15.3-12.31(chr10:54086-19336980)x1	PROSER2-AS1, PRPF18 +680 more	Copy number loss	See cases	GPathogenic
Select item 154187	GRCh38/hg38 10p15.3-13(chr10:54086-13205916)x3	MIR5699, MIR6072 +496 more	Copy number gain	See cases	GPathogenic
Select item 154099	GRCh38/hg38 10p15.3-14(chr10:1601172-9203729)x3	ADARB2, AKR1C1 +304 more	Copy number gain	See cases	GLikely pathogenic
Select item 152998	GRCh38/hg38 10p15.1-q11.22(chr10:4604734-48074662)x3	ABI1, ACBD5 +1221 more	Copy number gain	See cases	GBenign
Select item 150048	GRCh38/hg38 10p15.3-13(chr10:70478-13736564)x1	LOC130003277, LOC130003278 +520 more	Copy number loss	See cases	GPathogenic
Select item 149407	GRCh38/hg38 10p15.3-12.1(chr10:90205-26339978)x3	ACBD7, ACBD7-DCLRE1CP1 +837 more	Copy number gain	See cases	GPathogenic
Select item 146553	GRCh38/hg38 10p15.1-14(chr10:4605831-7403265)x1	AKR1C1, AKR1C2 +175 more	Copy number loss	See cases	GUncertain significance
Select item 146220	GRCh38/hg38 10p15.3-14(chr10:90421-11713049)x3	LOC130003153, LOC130003154 +421 more	Copy number gain	See cases	GPathogenic
Select item 146014	GRCh38/hg38 10p15.3-13(chr10:73856-12815915)x3	LOC132090805, MANCR +482 more	Copy number gain	See cases	GPathogenic
Select item 59657	GRCh38/hg38 10p15.3-12.31(chr10:69261-19184047)x3	LOC126860819, LOC126860820 +680 more	Copy number gain	See cases	GPathogenic
Select item 58717	GRCh38/hg38 10p15.1-13(chr10:4802753-16823491)x1	LOC130003217, LOC130003218 +482 more	Copy number loss	See cases	GPathogenic
Select item 57431	GRCh38/hg38 10p15.3-14(chr10:90421-6769994)x3	ADARB2, ADARB2-AS1 +298 more	Copy number gain	See cases	GPathogenic
Select item 57407	GRCh38/hg38 10p15.3-14(chr10:90421-8442783)x3	ADARB2, ADARB2-AS1 +352 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 72