ClinVar for Gene (Select 114294) - ClinVar

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Links from Gene

Items: 52

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3289835	NM_032857.5(LACTB):c.947A>G (p.Lys316Arg)	LACTB (K316R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3289834	NM_032857.5(LACTB):c.810G>C (p.Glu270Asp)	LACTB (E270D)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3289833	NM_032857.5(LACTB):c.151G>T (p.Ala51Ser)	LACTB, LOC130057223 (A51S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117324	NM_032857.5(LACTB):c.904A>T (p.Ile302Phe)	LACTB (I302F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117323	NM_032857.5(LACTB):c.904A>G (p.Ile302Val)	LACTB (I302V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117322	NM_032857.5(LACTB):c.806A>C (p.Gln269Pro)	LACTB (Q269P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117321	NM_032857.5(LACTB):c.7C>T (p.Arg3Trp)	LACTB, LOC130057223 (R3W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117320	NM_032857.5(LACTB):c.520C>T (p.Leu174Phe)	LACTB (L174F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117318	NM_032857.5(LACTB):c.376G>A (p.Gly126Ser)	LACTB (G126S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117317	NM_032857.5(LACTB):c.277C>A (p.Pro93Thr)	LACTB, LOC130057223 (P93T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117316	NM_032857.5(LACTB):c.206C>T (p.Pro69Leu)	LACTB, LOC130057223 (P69L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117315	NM_032857.5(LACTB):c.184G>C (p.Gly62Arg)	LACTB, LOC130057223 (G62R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117314	NM_032857.5(LACTB):c.1511A>G (p.Asp504Gly)	LACTB (D504G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117313	NM_032857.5(LACTB):c.1427G>A (p.Cys476Tyr)	LACTB (C476Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117312	NM_032857.5(LACTB):c.1415C>T (p.Thr472Met)	LACTB (T472M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117311	NM_032857.5(LACTB):c.1259T>C (p.Val420Ala)	LACTB (V420A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117310	NM_032857.5(LACTB):c.1145G>A (p.Arg382His)	LACTB (R382H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117309	NM_032857.5(LACTB):c.1055A>T (p.His352Leu)	LACTB (H352L)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3117308	NM_032857.5(LACTB):c.1012G>A (p.Ala338Thr)	LACTB (A338T)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2555596	NM_032857.5(LACTB):c.269C>G (p.Pro90Arg)	LACTB, LOC130057223 (P90R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521862	NM_032857.5(LACTB):c.324C>G (p.Ile108Met)	LACTB, LOC130057223 (I108M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520708	NM_032857.5(LACTB):c.682A>G (p.Lys228Glu)	LACTB (K228E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515942	NM_032857.5(LACTB):c.1343C>T (p.Pro448Leu)	LACTB (P448L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484964	NM_032857.5(LACTB):c.569A>C (p.Gln190Pro)	LACTB (Q190P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478869	NM_032857.5(LACTB):c.1522A>G (p.Ile508Val)	LACTB (I508V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2424797	NC_000015.9:g.(?_62146656)_(64747263_?)del	APH1B, C2CD4A +19 more	Deletion	not provided	GPathogenic
Select item 2329265	NM_032857.5(LACTB):c.440A>T (p.Asp147Val)	LACTB (D147V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309475	NM_032857.5(LACTB):c.185G>T (p.Gly62Val)	LACTB, LOC130057223 (G62V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288128	NM_032857.5(LACTB):c.827G>A (p.Arg276Gln)	LACTB (R276Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287065	NM_032857.5(LACTB):c.921A>T (p.Leu307Phe)	LACTB (L307F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271244	NM_032857.5(LACTB):c.471G>C (p.Glu157Asp)	LACTB (E157D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266388	NM_032857.5(LACTB):c.1438C>T (p.Arg480Trp)	LACTB (R480W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258564	NM_032857.5(LACTB):c.529T>G (p.Leu177Val)	LACTB (L177V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246860	NM_032857.5(LACTB):c.50G>C (p.Gly17Ala)	LACTB, LOC130057223 (G17A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238496	NM_032857.5(LACTB):c.1238C>T (p.Ala413Val)	LACTB (A413V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209207	NM_032857.5(LACTB):c.1534G>A (p.Val512Ile)	LACTB (V512I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1807706	GRCh37/hg19 15q21.1-22.2(chr15:48589845-63543438)x3	ADAM10, ALDH1A2 +81 more	Copy number gain	not provided	GPathogenic
Select item 1024934	NC_000015.9:g.(?_32964879)_(91358519_?)dup	CGNL1, MAPDA +472 more	Duplication	Familial colorectal cancer +1 more	GUncertain significance
Select item 833184	NC_000015.10:g.(?_63042820)_(63869153_?)dup	APH1B, CA12 +7 more	Duplication	Hypertrophic cardiomyopathy	GUncertain significance
Select item 776909	NM_032857.5(LACTB):c.73C>T (p.Arg25Cys)	LACTB, LOC130057223 (R25C)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 776908	NM_032857.5(LACTB):c.46G>A (p.Gly16Arg)	LACTB, LOC130057223 (G16R)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 709479	NM_032857.5(LACTB):c.1440G>A (p.Arg480=)	LACTB	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 708588	NM_032857.5(LACTB):c.616-7C>A	LACTB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 560063	Single allele	ANKDD1A, APH1B +40 more	Deletion	Nemaline myopathy 6	GLikely pathogenic
Select item 560049	Single allele	PDIA3, PEAK1 +521 more	Duplication	not provided	GPathogenic
Select item 442893	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)x3	AAGAB, ABHD17C +559 more	Copy number gain	See cases	GPathogenic
Select item 442892	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)	NOX5, NPAP1 +559 more	Copy number gain	See cases	GPathogenic
Select item 395145	GRCh37/hg19 15q11.2-26.3(chr15:20733395-102511616)x4	CHRFAM7A, CHRM5 +566 more	Copy number gain	See cases	GPathogenic
Select item 394887	GRCh37/hg19 15q15.1-26.3(chr15:41745084-102354798)x4	ALDH1A2, ALDH1A3 +444 more	Copy number gain	See cases	GPathogenic
Select item 369835	GRCh37/hg19 15q22.1-26.3(chr15:59297293-102480888)x3	WHAMM, CCNB2 +308 more	Copy number gain	not provided	GLikely pathogenic
Select item 208871	NM_032857.5(LACTB):c.46G>C (p.Gly16Arg)	LACTB, LOC130057223 (G16R)	Single nucleotide variant (missense variant)	Abnormality of neuronal migration	GBenign
Select item 154848	GRCh38/hg38 15q22.2-26.3(chr15:59828460-101920998)x3	LOC130057927, LOC130057928 +1764 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 52