6945[HGNC] - ClinVar

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Items: 67

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 149301	GRCh38/hg38 6p21.1-12.1(chr6:45681671-54212044)x1	GSTA3, GSTA4 +228 more	Copy number loss	See cases	GPathogenic
Select item 145584	GRCh38/hg38 6p12.3-11.2(chr6:50971182-57432788)x1	BAG2, BEND6 +171 more	Copy number loss	See cases	GPathogenic
Select item 147999	GRCh38/hg38 6p12.3-12.1(chr6:51093754-53859634)x4	CILK1, EFHC1 +119 more	Copy number gain	See cases	GPathogenic
Select item 147421	GRCh38/hg38 6p12.2(chr6:51803422-52698500)x1	EFHC1, IL17A +58 more	Copy number loss	See cases	GPathogenic
Select item 3124317	NM_002388.6(MCM3):c.2413A>G (p.Ile805Val)	MCM3 (I602V +6 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 3124316	NM_002388.6(MCM3):c.2387A>G (p.Asn796Ser)	MCM3 (N593S +6 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2469851	NM_002388.6(MCM3):c.2371A>C (p.Lys791Gln)	MCM3 (K774Q +6 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2301186	NM_002388.6(MCM3):c.2334G>T (p.Glu778Asp)	MCM3 (A812S +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2540016	NM_002388.6(MCM3):c.2318A>G (p.Asn773Ser)	MCM3 (N727S +6 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2400815	NM_002388.6(MCM3):c.2293A>C (p.Met765Leu)	MCM3 (H815P +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1173065	NM_002388.6(MCM3):c.2282A>T (p.Gln761Leu)	MCM3 (Q480L +6 more)	Single nucleotide variant (missense variant +2 more)	Meier-Gorlin syndrome	GUncertain significance
Select item 3124314	NM_002388.6(MCM3):c.2120C>T (p.Pro707Leu)	MCM3 (P534L +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2266425	NM_002388.6(MCM3):c.2083C>T (p.Arg695Cys)	MCM3 (R678C +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2595763	NM_002388.6(MCM3):c.2005G>A (p.Glu669Lys)	MCM3 (E388K +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2303787	NM_002388.6(MCM3):c.1990C>A (p.Arg664Ser)	MCM3 (R681S +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2611228	NM_002388.6(MCM3):c.1901G>A (p.Ser634Asn)	MCM3 (S634N +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3124313	NM_002388.6(MCM3):c.1829C>T (p.Thr610Ile)	MCM3 (T437I +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3124312	NM_002388.6(MCM3):c.1822G>A (p.Ala608Thr)	MCM3 (A562T +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2287000	NM_002388.6(MCM3):c.1802A>G (p.Asp601Gly)	MCM3 (D320G +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2507525	NM_002388.6(MCM3):c.1686G>C (p.Met562Ile)	MCM3 (M516I +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2216548	NM_002388.6(MCM3):c.1508G>A (p.Arg503Gln)	MCM3 (R503Q +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2315919	NM_002388.6(MCM3):c.1484G>A (p.Arg495Gln)	MCM3 (R449Q +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3124311	NM_002388.6(MCM3):c.1334G>A (p.Arg445His)	MCM3 (R272H +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2540649	NM_002388.6(MCM3):c.1265T>C (p.Ile422Thr)	MCM3 (I405T +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3124310	NM_002388.6(MCM3):c.1258A>G (p.Thr420Ala)	MCM3 (T403A +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2334251	NM_002388.6(MCM3):c.1148C>G (p.Thr383Ser)	MCM3 (T180S +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3124309	NM_002388.6(MCM3):c.1067G>A (p.Arg356Gln)	MCM3 (R153Q +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3124308	NM_002388.6(MCM3):c.1034G>T (p.Gly345Val)	MCM3 (G345V +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2256460	NM_002388.6(MCM3):c.865A>G (p.Lys289Glu)	MCM3 (K116E +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 783464	NM_002388.6(MCM3):c.771-10T>C	MCM3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2596773	NM_002388.6(MCM3):c.768C>G (p.Phe256Leu)	MCM3 (F256L +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2376642	NM_002388.6(MCM3):c.655G>A (p.Val219Ile)	MCM3 (V16I +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2228183	NM_002388.6(MCM3):c.631G>A (p.Gly211Ser)	MCM3 (G38S +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3124326	NM_002388.6(MCM3):c.614C>T (p.Pro205Leu)	MCM3 (P188L +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3124325	NM_002388.6(MCM3):c.587A>G (p.His196Arg)	MCM3 (H179R +3 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2546588	NM_002388.6(MCM3):c.572C>T (p.Ser191Phe)	MCM3 (S191F +2 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2591037	NM_002388.6(MCM3):c.557C>T (p.Thr186Ile)	MCM3 (T140I +2 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2407539	NM_002388.6(MCM3):c.547C>A (p.Pro183Thr)	MCM3 (P183T +2 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2397156	NM_002388.6(MCM3):c.547C>T (p.Pro183Ser)	MCM3 (P10S +2 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3124324	NM_002388.6(MCM3):c.543C>G (p.Asn181Lys)	MCM3 (N135K +2 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2329066	NM_002388.6(MCM3):c.540G>C (p.Glu180Asp)	MCM3 (E134D +2 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3124323	NM_002388.6(MCM3):c.530A>C (p.Lys177Thr)	MCM3 (K177T +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3124322	NM_002388.6(MCM3):c.473G>A (p.Arg158His)	MCM3 (R112H +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3124321	NM_002388.6(MCM3):c.439T>G (p.Tyr147Asp)	MCM3 (Y101D +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3293660	NM_002388.6(MCM3):c.412C>T (p.Arg138Cys)	MCM3 (R138C +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2479063	NM_002388.6(MCM3):c.407T>C (p.Leu136Pro)	MCM3 (L136P +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3124320	NM_002388.6(MCM3):c.377G>T (p.Cys126Phe)	MCM3 (C80F +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3124319	NM_002388.6(MCM3):c.360C>A (p.Phe120Leu)	MCM3 (F120L +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3293659	NM_002388.6(MCM3):c.355T>C (p.Cys119Arg)	MCM3 (C73R +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2458691	NM_002388.6(MCM3):c.340C>T (p.Arg114Trp)	MCM3 (R114W +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2270625	NM_002388.6(MCM3):c.305T>C (p.Leu102Pro)	MCM3 (L102P +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2599079	NM_002388.6(MCM3):c.298G>T (p.Val100Leu)	MCM3 (V54L +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3293657	NM_002388.6(MCM3):c.257C>T (p.Ser86Phe)	MCM3 (S86F +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3293661	NM_002388.6(MCM3):c.230A>T (p.Gln77Leu)	MCM3 (Q31L +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3293658	NM_002388.6(MCM3):c.230A>G (p.Gln77Arg)	MCM3 (Q31R +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2365490	NM_002388.6(MCM3):c.220G>A (p.Val74Ile)	MCM3 (V28I +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2324413	NM_002388.6(MCM3):c.218T>A (p.Leu73Gln)	MCM3 (L73Q +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2206189	NM_002388.6(MCM3):c.149A>G (p.Asn50Ser)	MCM3 (N50S)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2685203	GRCh37/hg19 6p12.3-12.1(chr6:50181657-55538355)x1	CILK1, EFHC1 +30 more	Copy number loss	not provided	GPathogenic
Select item 1676306	GRCh37/hg19 6p21.1-q12(chr6:43636308-64947206)x3	PAQR8, PGK2 +92 more	Copy number gain	not provided	GLikely pathogenic
Select item 1042479	NC_000006.11:g.(?_51930764)_(52906034_?)del	CILK1, EFHC1 +15 more	Deletion	not provided	GUncertain significance
Select item 983177	GRCh37/hg19 6p12.3-12.1(chr6:48626041-55575545)x1	TFAP2D, TINAG +43 more	Copy number loss	See cases	GLikely pathogenic
Select item 916002	GRCh37/hg19 6p12.3-12.2(chr6:51695623-52371918)	EFHC1, IL17A +7 more	Copy number loss	Autosomal recessive polycystic kidney disease	GPathogenic
Select item 688629	GRCh37/hg19 6p12.3-12.2(chr6:51637152-52303162)x3	EFHC1, IL17A +6 more	Copy number gain	not provided	GUncertain significance
Select item 625706	GRCh37/hg19 6p22.1-q14.1(chr6:29455465-81447367)	ERVH-3, ETV7 +427 more	Copy number gain	not provided	GPathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AARS2, ABCC10 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	RING1, RIOK1 +1028 more	Copy number gain	See cases	GPathogenic

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Items: 67