18273[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	ILRUN-AS1, IP6K3 +2582 more	Copy number gain	See cases	GPathogenic
Select item 58427	GRCh38/hg38 6p21.2-21.1(chr6:37777369-45653843)x1	LOC129996415, LOC129996416 +435 more	Copy number loss	See cases	GPathogenic
Select item 58428	GRCh38/hg38 6p21.1-12.3(chr6:41638061-46512949)x1	LOC132089395, LOC132089396 +324 more	Copy number loss	See cases	GPathogenic
Select item 3182127	NM_001395490.1(TRERF1):c.3628G>A (p.Ala1210Thr)	TRERF1 (A1198T +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3182126	NM_001395490.1(TRERF1):c.3596A>G (p.Asp1199Gly)	TRERF1 (D1199G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399501	NM_001395490.1(TRERF1):c.3583G>A (p.Asp1195Asn)	TRERF1 (D1183N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182125	NM_001395490.1(TRERF1):c.3580A>C (p.Thr1194Pro)	TRERF1 (T1111P +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291585	NM_001395490.1(TRERF1):c.3562G>C (p.Glu1188Gln)	TRERF1 (E1196Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182124	NM_001395490.1(TRERF1):c.3532G>A (p.Val1178Ile)	TRERF1 (V1095I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460115	NM_001395490.1(TRERF1):c.3461C>T (p.Pro1154Leu)	TRERF1 (P1154L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3328582	NM_001395490.1(TRERF1):c.3458C>T (p.Ala1153Val)	TRERF1 (A1153V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2656549	NM_001395490.1(TRERF1):c.3450C>G (p.Pro1150=)	TRERF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2491655	NM_001395490.1(TRERF1):c.3377A>G (p.Gln1126Arg)	TRERF1 (Q1043R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3328584	NM_001395490.1(TRERF1):c.3343G>A (p.Ala1115Thr)	TRERF1 (A1103T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3328580	NM_001395490.1(TRERF1):c.3281C>G (p.Pro1094Arg)	TRERF1 (P1094R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182123	NM_001395490.1(TRERF1):c.3268G>A (p.Gly1090Ser)	TRERF1 (G1007S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248031	NM_001395490.1(TRERF1):c.3238A>C (p.Lys1080Gln)	TRERF1 (K997Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3328581	NM_001395490.1(TRERF1):c.3184A>G (p.Ile1062Val)	TRERF1 (I1070V +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3182122	NM_001395490.1(TRERF1):c.3159C>G (p.Asn1053Lys)	TRERF1 (N1061K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 773327	NM_001395490.1(TRERF1):c.3027C>T (p.Pro1009=)	TRERF1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3182121	NM_001395490.1(TRERF1):c.3025C>A (p.Pro1009Thr)	TRERF1 (P1009T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374364	NM_001395490.1(TRERF1):c.3002C>T (p.Pro1001Leu)	TRERF1 (P1001L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 560288	NM_001395490.1(TRERF1):c.3000del (p.Pro1001fs)	TRERF1 (P1001fs +2 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2656550	NM_001395490.1(TRERF1):c.2994G>A (p.Thr998=)	TRERF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2405508	NM_001395490.1(TRERF1):c.2974G>A (p.Val992Ile)	TRERF1 (V909I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182119	NM_001395490.1(TRERF1):c.2806C>T (p.Arg936Trp)	TRERF1 (R936W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182118	NM_001395490.1(TRERF1):c.2717G>A (p.Ser906Asn)	TRERF1 (S906N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 779911	NM_001395490.1(TRERF1):c.2657-9T>G	TRERF1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2589822	NM_001395490.1(TRERF1):c.2606G>A (p.Arg869Gln)	TRERF1 (R786Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 783461	NM_001395490.1(TRERF1):c.2523A>C (p.Gly841=)	TRERF1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2303760	NM_001395490.1(TRERF1):c.2514G>T (p.Leu838Phe)	TRERF1 (L838F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550769	NM_001395490.1(TRERF1):c.2414A>C (p.His805Pro)	TRERF1 (H805P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550768	NM_001395490.1(TRERF1):c.2402C>G (p.Ala801Gly)	TRERF1 (A718G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3328583	NM_001395490.1(TRERF1):c.2338C>T (p.Arg780Cys)	TRERF1 (R697C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 723997	NM_001395490.1(TRERF1):c.2296G>A (p.Val766Ile)	TRERF1 (V766I +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2367639	NM_001395490.1(TRERF1):c.2277C>G (p.Ile759Met)	TRERF1 (I779M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246358	NM_001395490.1(TRERF1):c.2255T>A (p.Leu752Gln)	TRERF1 (L752Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182117	NM_001395490.1(TRERF1):c.2230C>T (p.Pro744Ser)	TRERF1 (P661S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3328585	NM_001395490.1(TRERF1):c.2227A>G (p.Thr743Ala)	TRERF1 (T660A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182116	NM_001395490.1(TRERF1):c.2112G>T (p.Glu704Asp)	TRERF1 (E621D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477478	NM_001395490.1(TRERF1):c.2092C>T (p.Leu698Phe)	TRERF1 (L615F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182113	NM_001395490.1(TRERF1):c.2016C>G (p.Asn672Lys)	TRERF1 (N589K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3328587	NM_001395490.1(TRERF1):c.2011C>T (p.Pro671Ser)	TRERF1 (P588S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 771396	NM_001395490.1(TRERF1):c.2004C>T (p.Ser668=)	TRERF1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2303890	NM_001395490.1(TRERF1):c.2002T>A (p.Ser668Thr)	TRERF1 (S668T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235086	NM_001395490.1(TRERF1):c.1963C>G (p.Arg655Gly)	TRERF1 (R572G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234935	NM_001395490.1(TRERF1):c.1962C>A (p.Phe654Leu)	TRERF1 (F674L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2620573	NM_001395490.1(TRERF1):c.1952A>G (p.Lys651Arg)	TRERF1 (K651R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182112	NM_001395490.1(TRERF1):c.1898A>C (p.Lys633Thr)	TRERF1 (K550T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 785171	NM_001395490.1(TRERF1):c.1857G>T (p.Ser619=)	TRERF1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2656551	NM_001395490.1(TRERF1):c.1824C>T (p.Ala608=)	TRERF1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2511636	NM_001395490.1(TRERF1):c.1808C>T (p.Thr603Ile)	TRERF1 (T603I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3182111	NM_001395490.1(TRERF1):c.1744A>G (p.Met582Val)	TRERF1 (M582V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2361690	NM_001395490.1(TRERF1):c.1739C>T (p.Thr580Met)	TRERF1 (T580M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2249219	NM_001395490.1(TRERF1):c.1727C>T (p.Ala576Val)	TRERF1 (A576V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 775238	NM_001395490.1(TRERF1):c.1722C>T (p.Pro574=)	TRERF1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 785172	NM_001395490.1(TRERF1):c.1667C>G (p.Pro556Arg)	TRERF1 (P556R)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2249766	NM_001395490.1(TRERF1):c.1652T>C (p.Val551Ala)	TRERF1 (V551A)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2257233	NM_001395490.1(TRERF1):c.1631A>G (p.Lys544Arg)	TRERF1 (K544R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3328589	NM_001395490.1(TRERF1):c.1628T>C (p.Leu543Pro)	TRERF1 (L543P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287948	NM_001395490.1(TRERF1):c.1622C>G (p.Pro541Arg)	TRERF1 (P541R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 774181	NM_001395490.1(TRERF1):c.1568A>G (p.Asn523Ser)	TRERF1 (N523S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 773940	NM_001395490.1(TRERF1):c.1444C>T (p.Leu482=)	TRERF1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3182110	NM_001395490.1(TRERF1):c.1394G>A (p.Gly465Glu)	TRERF1 (G465E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233136	NM_001395490.1(TRERF1):c.1393G>A (p.Gly465Arg)	TRERF1 (G465R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402072	NM_001395490.1(TRERF1):c.1331T>A (p.Val444Asp)	TRERF1 (V444D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182109	NM_001395490.1(TRERF1):c.1310C>T (p.Ala437Val)	TRERF1 (A437V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 784086	NM_001395490.1(TRERF1):c.1291A>G (p.Thr431Ala)	TRERF1 (T431A)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2553193	NM_001395490.1(TRERF1):c.1228T>C (p.Tyr410His)	TRERF1 (Y410H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366602	NM_001395490.1(TRERF1):c.1093A>G (p.Thr365Ala)	TRERF1 (T365A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2353706	NM_001395490.1(TRERF1):c.1048T>C (p.Ser350Pro)	TRERF1 (S350P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591903	NM_001395490.1(TRERF1):c.949C>T (p.Arg317Trp)	TRERF1 (R317W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 768092	NM_001395490.1(TRERF1):c.900A>G (p.Pro300=)	TRERF1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3182132	NM_001395490.1(TRERF1):c.815C>A (p.Pro272Gln)	TRERF1 (P272Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3182131	NM_001395490.1(TRERF1):c.784C>G (p.Gln262Glu)	TRERF1 (Q262E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3328588	NM_001395490.1(TRERF1):c.749C>T (p.Pro250Leu)	TRERF1 (P250L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608903	NM_001395490.1(TRERF1):c.628C>T (p.Pro210Ser)	TRERF1 (P210S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182130	NM_001395490.1(TRERF1):c.599G>A (p.Arg200His)	TRERF1 (R200H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526265	NM_001395490.1(TRERF1):c.584C>T (p.Pro195Leu)	TRERF1 (P195L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2561679	NM_001395490.1(TRERF1):c.544C>T (p.Arg182Cys)	TRERF1 (R182C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3328590	NM_001395490.1(TRERF1):c.541C>G (p.Leu181Val)	TRERF1 (L181V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182128	NM_001395490.1(TRERF1):c.508T>G (p.Ser170Ala)	TRERF1 (S170A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243906	NM_001395490.1(TRERF1):c.385G>A (p.Glu129Lys)	TRERF1 (E129K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182120	NM_001395490.1(TRERF1):c.300C>A (p.Asn100Lys)	TRERF1 (N100K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 773941	NM_001395490.1(TRERF1):c.259A>G (p.Ser87Gly)	TRERF1 (S87G)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2590540	NM_001395490.1(TRERF1):c.224G>A (p.Gly75Asp)	TRERF1 (G75D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 785173	NM_001395490.1(TRERF1):c.205G>A (p.Val69Ile)	TRERF1 (V69I)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2410090	NM_001395490.1(TRERF1):c.152C>T (p.Ser51Leu)	TRERF1 (S51L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216322	NM_001395490.1(TRERF1):c.130G>A (p.Gly44Arg)	TRERF1 (G44R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398357	NM_001395490.1(TRERF1):c.41A>G (p.His14Arg)	TRERF1 (H14R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 668242	NM_001395490.1(TRERF1):c.36G>A (p.Val12=)	TRERF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 57326	GRCh38/hg38 6p21.1(chr6:42368558-44590544)x1	AARS2, ABCC10 +221 more	Copy number loss	See cases	GPathogenic
Select item 2424354	NC_000006.11:g.(?_42162409)_(44154249_?)del	ABCC10, BICRAL +43 more	Deletion	not provided	GUncertain significance
Select item 2422887	NC_000006.11:g.(?_41126341)_(43737486_?)dup	ABCC10, BICRAL +57 more	Duplication	PRPH2-related disorder	GUncertain significance
Select item 2422814	NC_000006.11:g.(?_41126341)_(43752536_?)del	ABCC10, BICRAL +58 more	Deletion	Peroxisome biogenesis disorder	GPathogenic
Select item 1808459	GRCh37/hg19 6p21.1(chr6:42043510-42274148)x3	C6orf132, GUCA1A +4 more	Copy number gain	not provided	GUncertain significance
Select item 1527235	GRCh37/hg19 6p21.1(chr6:42063625-42274165)	GUCA1A, GUCA1B +3 more	Copy number gain	not specified	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 493566	GRCh37/hg19 6p21.1(chr6:42039993-42270812)x3	TAF8, TRERF1 +4 more	Copy number gain	not provided	GLikely pathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AARS2, ABCC10 +1028 more	Copy number gain	See cases	GPathogenic

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