OVCH1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 151004	GRCh38/hg38 12p13.33-11.1(chr12:54427-34608071)x4	TAS2R9, TEAD4 +1258 more	Copy number gain	See cases	GPathogenic
Select item 153962	GRCh38/hg38 12p13.33-11.1(chr12:64620-34682902)x4	CLEC12A, CLEC12A-AS1 +1258 more	Copy number gain	See cases	GPathogenic
Select item 59794	GRCh38/hg38 12p13.33-11.1(chr12:77187-34380176)x3	LOC126861410, LOC126861411 +1258 more	Copy number gain	See cases	GPathogenic
Select item 147419	GRCh38/hg38 12p13.33-11.1(chr12:121255-34603274)x3	LOC130007230, LOC130007231 +1257 more	Copy number gain	See cases	GPathogenic
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	FERRY3, FGD4 +4837 more	Copy number gain	See cases	GPathogenic
Select item 150158	GRCh38/hg38 12p13.33-11.1(chr12:121271-34603261)x3	LOC126861494, LOC126861495 +1257 more	Copy number gain	See cases	GPathogenic
Select item 59799	GRCh38/hg38 12p13.33-11.1(chr12:212976-33926913)x4	CACNA1C-AS2, CACNA1C-AS4 +1242 more	Copy number gain	See cases	GPathogenic
Select item 144376	GRCh38/hg38 12p12.1-11.1(chr12:25263833-34064528)x1	ALG10, AMN1 +242 more	Copy number loss	See cases	GPathogenic
Select item 153124	GRCh38/hg38 12p11.22(chr12:28942339-29418625)x3	ERGIC2, FAR2 +9 more	Copy number gain	See cases	GUncertain significance
Select item 3207471	NC_000012.12:g.29433785C>G	OVCH1, OVCH1-AS1	Single nucleotide variant	not specified	GUncertain significance
Select item 2255197	NM_001353179.2(OVCH1):c.3224G>A (p.Arg1075His)	OVCH1, OVCH1-AS1 (R1075H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2322237	NM_001353179.2(OVCH1):c.3205G>C (p.Val1069Leu)	OVCH1, OVCH1-AS1 (V1069L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469717	NM_001353179.2(OVCH1):c.3185C>T (p.Pro1062Leu)	OVCH1, OVCH1-AS1 (P1062L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326744	NM_001353179.2(OVCH1):c.3161T>C (p.Ile1054Thr)	OVCH1, OVCH1-AS1 (I1054T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253322	NM_001353179.2(OVCH1):c.3154C>T (p.His1052Tyr)	OVCH1, OVCH1-AS1 (H1052Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3303728	NM_001353179.2(OVCH1):c.3149T>C (p.Leu1050Ser)	OVCH1, OVCH1-AS1 (L1050S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207470	NM_001353179.2(OVCH1):c.3106C>T (p.His1036Tyr)	OVCH1, OVCH1-AS1 (H1036Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456833	NM_001353179.2(OVCH1):c.3041T>C (p.Leu1014Ser)	OVCH1, OVCH1-AS1 (L1014S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207468	NM_001353179.2(OVCH1):c.3038A>C (p.His1013Pro)	OVCH1, OVCH1-AS1 (H1013P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3303732	NM_001353179.2(OVCH1):c.2956G>A (p.Gly986Ser)	OVCH1, OVCH1-AS1 (G986S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336227	NM_001353179.2(OVCH1):c.2876G>A (p.Arg959Lys)	OVCH1, OVCH1-AS1 (R959K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216164	NM_001353179.2(OVCH1):c.2717T>C (p.Leu906Pro)	OVCH1, OVCH1-AS1 (L906P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474049	NM_001353179.2(OVCH1):c.2716C>G (p.Leu906Val)	OVCH1, OVCH1-AS1 (L906V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207467	NM_001353179.2(OVCH1):c.2690G>A (p.Arg897Gln)	OVCH1, OVCH1-AS1 (R897Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268259	NM_001353179.2(OVCH1):c.2603C>G (p.Pro868Arg)	OVCH1, OVCH1-AS1 (P868R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3303730	NM_001353179.2(OVCH1):c.2579C>A (p.Thr860Asn)	OVCH1, OVCH1-AS1 (T860N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374258	NM_001353179.2(OVCH1):c.2540A>G (p.Asn847Ser)	OVCH1, OVCH1-AS1 (N847S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3303731	NM_001353179.2(OVCH1):c.2533A>G (p.Lys845Glu)	OVCH1, OVCH1-AS1 (K845E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552645	NM_001353179.2(OVCH1):c.2498C>A (p.Ala833Asp)	OVCH1, OVCH1-AS1 (A833D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3303725	NM_001353179.2(OVCH1):c.2479T>C (p.Trp827Arg)	OVCH1, OVCH1-AS1 (W827R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2313165	NM_001353179.2(OVCH1):c.2371A>G (p.Lys791Glu)	OVCH1, OVCH1-AS1 (K791E)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2248320	NM_001353179.2(OVCH1):c.2317C>T (p.Pro773Ser)	OVCH1, OVCH1-AS1 (P773S)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2362271	NM_001353179.2(OVCH1):c.2299A>G (p.Thr767Ala)	OVCH1, OVCH1-AS1 (T767A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474971	NM_001353179.2(OVCH1):c.2216G>A (p.Gly739Glu)	OVCH1, OVCH1-AS1 (G739E)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2558851	NM_001353179.2(OVCH1):c.2141T>G (p.Val714Gly)	OVCH1, OVCH1-AS1 (V714G)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2338834	NM_001353179.2(OVCH1):c.2135A>G (p.Asn712Ser)	OVCH1, OVCH1-AS1 (N712S)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 3207466	NM_001353179.2(OVCH1):c.2092T>A (p.Ser698Thr)	OVCH1, OVCH1-AS1 (S698T)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2232463	NM_001353179.2(OVCH1):c.2053A>G (p.Ile685Val)	OVCH1, OVCH1-AS1 (I685V)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2359432	NM_001353179.2(OVCH1):c.1942G>A (p.Ala648Thr)	OVCH1, OVCH1-AS1 (A648T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3303729	NM_001353179.2(OVCH1):c.1894G>A (p.Asp632Asn)	OVCH1, OVCH1-AS1 (D632N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389129	NM_001353179.2(OVCH1):c.1877G>A (p.Gly626Asp)	OVCH1, OVCH1-AS1 (G626D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609822	NM_001353179.2(OVCH1):c.1841A>T (p.Glu614Val)	OVCH1, OVCH1-AS1 (E614V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604291	NM_001353179.2(OVCH1):c.1804A>G (p.Ser602Gly)	OVCH1, OVCH1-AS1 (S602G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602458	NM_001353179.2(OVCH1):c.1792A>G (p.Ile598Val)	OVCH1, OVCH1-AS1 (I598V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3303727	NM_001353179.2(OVCH1):c.1768G>T (p.Ala590Ser)	OVCH1, OVCH1-AS1 (A590S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465899	NM_001353179.2(OVCH1):c.1762G>A (p.Val588Ile)	OVCH1, OVCH1-AS1 (V588I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2220448	NM_001353179.2(OVCH1):c.1748A>G (p.Asn583Ser)	OVCH1, OVCH1-AS1 (N583S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207465	NM_001353179.2(OVCH1):c.1703C>T (p.Ser568Leu)	OVCH1, OVCH1-AS1 (S568L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209642	NM_001353179.2(OVCH1):c.1631C>T (p.Thr544Met)	OVCH1, OVCH1-AS1 (T544M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2226786	NM_001353179.2(OVCH1):c.1610T>C (p.Ile537Thr)	OVCH1, OVCH1-AS1 (I537T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266468	NM_001353179.2(OVCH1):c.1450T>A (p.Phe484Ile)	OVCH1, OVCH1-AS1 (F484I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379321	NM_001353179.2(OVCH1):c.1426C>T (p.Pro476Ser)	OVCH1, OVCH1-AS1 (P476S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511146	NM_001353179.2(OVCH1):c.1318C>T (p.Leu440Phe)	OVCH1, OVCH1-AS1 (L440F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511145	NM_001353179.2(OVCH1):c.1317G>T (p.Glu439Asp)	OVCH1, OVCH1-AS1 (E439D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380552	NM_001353179.2(OVCH1):c.1289A>T (p.Asp430Val)	OVCH1, OVCH1-AS1 (D430V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524888	NM_001353179.2(OVCH1):c.1229A>G (p.Lys410Arg)	OVCH1, OVCH1-AS1 (K410R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355743	NM_001353179.2(OVCH1):c.1214-64A>G	OVCH1, OVCH1-AS1	Single nucleotide variant (intron variant)	not provided +1 more	GUncertain significance
Select item 3207463	NM_001353179.2(OVCH1):c.1198A>G (p.Ser400Gly)	OVCH1, OVCH1-AS1 (S400G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408794	NM_001353179.2(OVCH1):c.1154A>G (p.Lys385Arg)	OVCH1, OVCH1-AS1 (K385R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480676	NM_001353179.2(OVCH1):c.1146C>A (p.Asp382Glu)	OVCH1, OVCH1-AS1 (D382E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333498	NM_001353179.2(OVCH1):c.978C>A (p.Ser326Arg)	OVCH1, OVCH1-AS1 (S326R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539999	NM_001353179.2(OVCH1):c.965A>G (p.Glu322Gly)	OVCH1, OVCH1-AS1 (E322G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207476	NM_001353179.2(OVCH1):c.853T>C (p.Ser285Pro)	OVCH1 (S285P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508568	NM_001353179.2(OVCH1):c.823A>G (p.Lys275Glu)	OVCH1 (K275E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589248	NM_001353179.2(OVCH1):c.817C>T (p.His273Tyr)	OVCH1 (H273Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212115	NM_001353179.2(OVCH1):c.805G>A (p.Val269Ile)	OVCH1 (V269I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2412163	NM_001353179.2(OVCH1):c.693C>G (p.Asp231Glu)	OVCH1 (D231E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212446	NM_001353179.2(OVCH1):c.592A>G (p.Ile198Val)	OVCH1 (I198V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331540	NM_001353179.2(OVCH1):c.580A>G (p.Met194Val)	OVCH1 (M194V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409813	NM_001353179.2(OVCH1):c.529G>A (p.Gly177Arg)	OVCH1 (G177R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207473	NM_001353179.2(OVCH1):c.490G>A (p.Asp164Asn)	OVCH1 (D164N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207472	NM_001353179.2(OVCH1):c.419T>C (p.Ile140Thr)	OVCH1 (I140T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208800	NM_001353179.2(OVCH1):c.398G>A (p.Arg133His)	OVCH1 (R133H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2221094	NM_001353179.2(OVCH1):c.377C>G (p.Thr126Ser)	OVCH1 (T126S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207469	NM_001353179.2(OVCH1):c.298A>G (p.Ile100Val)	OVCH1 (I100V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597221	NM_001353179.2(OVCH1):c.241C>T (p.Arg81Trp)	OVCH1 (R81W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329314	NM_001353179.2(OVCH1):c.157T>G (p.Ser53Ala)	OVCH1 (S53A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550894	NM_001353179.2(OVCH1):c.137G>A (p.Arg46Lys)	OVCH1 (R46K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470769	NM_001353179.2(OVCH1):c.116T>C (p.Val39Ala)	OVCH1 (V39A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207475	NM_001353179.2(OVCH1):c.83G>A (p.Arg28His)	OVCH1 (R28H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282992	NM_001353179.2(OVCH1):c.36G>C (p.Leu12Phe)	OVCH1 (L12F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063250	GRCh37/hg19 12p13.33-11.1(chr12:173786-34835641)x3	A2M, A2ML1 +278 more	Copy number gain	not specified	GPathogenic
Select item 2671607	Single allele	FGD4, FGF23 +278 more	Duplication	not provided	GPathogenic
Select item 2445417	GRCh37/hg19 12p13.33-11.1(chr12:176047-34179852)x4	DENND5B, DERA +278 more	Copy number gain	Pallister-Killian syndrome	GPathogenic
Select item 1527672	GRCh37/hg19 12p13.33-q11(chr12:173786-37869301)	C3AR1, CACNA1C +278 more	Copy number gain	not specified	GPathogenic
Select item 1527671	GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)	A2M, A2ML1 +278 more	Copy number gain	not specified	GPathogenic
Select item 815493	GRCh37/hg19 12p13.33-q11(chr12:274676-37869301)x4	ART4, DYRK4 +278 more	Copy number gain	not provided	GPathogenic
Select item 686501	GRCh37/hg19 12p13.33-11.1(chr12:173786-34496628)x3	CLEC1B, CLEC2A +278 more	Copy number gain	not provided	GPathogenic
Select item 563991	GRCh37/hg19 12p13.33-q11(chr12:173786-37869107)x3	A2M, A2ML1 +278 more	Copy number gain	not provided	GPathogenic
Select item 563990	GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)x3	A2M, A2ML1 +278 more	Copy number gain	not provided	GPathogenic
Select item 563989	GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)x2,3	A2M, A2ML1 +278 more	Copy number gain	not provided	GPathogenic
Select item 563950	GRCh37/hg19 12p11.22(chr12:29496129-30000274)x1	OVCH1, ERGIC2 +1 more	Copy number loss	not provided	GUncertain significance
Select item 563912	GRCh37/hg19 12p11.22(chr12:29426826-29630386)x3	OVCH1, FAR2 +1 more	Copy number gain	not provided	GUncertain significance
Select item 524190	NC_000012.11:g.26370251_54361538inv	BICD1, HDAC7 +212 more	Inversion	not specified	GUncertain significance
Select item 443854	GRCh37/hg19 12p11.22-11.1(chr12:29579030-34835837)x3	ALG10, AMN1 +17 more	Copy number gain	See cases	GLikely pathogenic
Select item 443519	GRCh37/hg19 12p11.22-q12(chr12:29123400-40956186)x3	ABCD2, ALG10 +27 more	Copy number gain	See cases	GLikely pathogenic
Select item 442150	GRCh37/hg19 12p13.33-11.1(chr12:565369-34835837)x3	KCNA6, KCNJ8 +273 more	Copy number gain	See cases	GLikely pathogenic
Select item 442144	GRCh37/hg19 12p11.22-11.21(chr12:29532369-30711970)x3	ERGIC2, OVCH1 +1 more	Copy number gain	See cases	GUncertain significance
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	SLC15A5, SLC16A7 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic

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