7066[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	LOC129937268, LOC129937269 +2645 more	Copy number gain	See cases	GPathogenic
Select item 57983	GRCh38/hg38 3q24-29(chr3:147521892-198096565)x3	BDH1, C3orf33 +1449 more	Copy number gain	See cases	GPathogenic
Select item 150609	GRCh38/hg38 3q25.1-29(chr3:152100512-198118383)x3	LOC129938007, LOC129938008 +1317 more	Copy number gain	See cases	GPathogenic
Select item 154213	GRCh38/hg38 3q25.31-29(chr3:156118441-198125115)x3	LOC129938312, LOC129938313 +1246 more	Copy number gain	See cases	GPathogenic
Select item 152257	GRCh38/hg38 3q25.31-29(chr3:156321878-198113452)x3	LOC129937897, LOC129937898 +1244 more	Copy number gain	See cases	GPathogenic
Select item 57984	GRCh38/hg38 3q25.31-29(chr3:157293378-198134727)x3	LOC129938023, LOC129938024 +1200 more	Copy number gain	See cases	GPathogenic
Select item 155627	GRCh38/hg38 3q26.1-29(chr3:166137209-198125115)x3	LOC129938326, LOC129938327 +1064 more	Copy number gain	See cases	GPathogenic
Select item 153893	GRCh38/hg38 3q26.1-28(chr3:167717962-188365272)x3	ABCC5, ABCC5-AS1 +627 more	Copy number gain	See cases	GLikely pathogenic
Select item 148012	GRCh38/hg38 3q26.2-29(chr3:168167568-198110178)x3	LOC129938320, LOC129938321 +1041 more	Copy number gain	See cases	GPathogenic
Select item 149685	GRCh38/hg38 3q26.32-29(chr3:176168525-198118383)x3	ABCC5, ABCC5-AS1 +867 more	Copy number gain	See cases	GPathogenic
Select item 148947	GRCh38/hg38 3q26.32-29(chr3:176439911-198118383)x3	ZMAT3, ZNF639 +866 more	Copy number gain	See cases	GPathogenic
Select item 224832	NC_000003.12:g.177772523_185716872dup	ALG3, AP2M1 +280 more	Duplication	Currarino triad	GLikely pathogenic
Select item 153734	GRCh38/hg38 3q26.33-28(chr3:181138664-192512023)x1	ABCC5, ABCC5-AS1 +399 more	Copy number loss	See cases	GPathogenic
Select item 153971	GRCh38/hg38 3q26.33-27.3(chr3:182319764-186443121)x1	ABCC5, ABCC5-AS1 +205 more	Copy number loss	See cases	GLikely pathogenic
Select item 3238952	GRCh38/hg38 3q27.1-27.2(chr3:183020090-185760128)x1	LOC121048724, LOC121048725 +160 more	Copy number loss	Esodeviation +7 more	GPathogenic
Select item 155230	GRCh38/hg38 3q27.1(chr3:183521497-184472038)x1	ABCC5, ABCC5-AS1 +85 more	Copy number loss	See cases	GLikely pathogenic
Select item 151178	GRCh38/hg38 3q27.1-27.2(chr3:184010704-186288926)x1	ABCC5, ABCC5-AS1 +126 more	Copy number loss	See cases	GLikely pathogenic
Select item 57995	GRCh38/hg38 3q27.1(chr3:184200139-184656801)x3	ALG3, CAMK2N2 +35 more	Copy number gain	See cases	GPathogenic
Select item 60129	GRCh38/hg38 3q27.1(chr3:184239109-184391437)x1	EIF4G1, FAM131A +26 more	Copy number loss	See cases	GUncertain significance
Select item 147717	GRCh38/hg38 3q27.1(chr3:184242321-184389832)x3	ALG3, CAMK2N2 +24 more	Copy number gain	See cases	GBenign
Select item 344365	NM_000460.4(THPO):c.*500A>G	THPO	Single nucleotide variant (3 prime UTR variant)	Thrombocythemia 1	GUncertain significance
Select item 344366	NM_000460.4(THPO):c.*482A>T	THPO	Single nucleotide variant (3 prime UTR variant)	Thrombocythemia 1	GBenign
Select item 900855	NM_000460.4(THPO):c.*480G>A	THPO	Single nucleotide variant (3 prime UTR variant)	Thrombocythemia 1	GUncertain significance
Select item 344367	NM_000460.4(THPO):c.*404G>A	THPO	Single nucleotide variant (3 prime UTR variant)	Thrombocythemia 1	GUncertain significance
Select item 900856	NM_000460.4(THPO):c.*366G>C	THPO	Single nucleotide variant (3 prime UTR variant)	Thrombocythemia 1	GUncertain significance
Select item 900857	NM_000460.4(THPO):c.*191T>G	THPO	Single nucleotide variant (3 prime UTR variant)	Thrombocythemia 1	GUncertain significance
Select item 900858	NM_000460.4(THPO):c.*108C>T	THPO	Single nucleotide variant (3 prime UTR variant)	Thrombocythemia 1	GUncertain significance
Select item 344368	NM_000460.4(THPO):c.*59G>A	THPO	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 344369	NM_000460.4(THPO):c.*35G>A	THPO	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 902534	NM_000460.4(THPO):c.*27A>G	THPO	Single nucleotide variant (3 prime UTR variant)	Thrombocythemia 1	GUncertain significance
Select item 286872	NM_000460.4(THPO):c.*18G>A	THPO	Single nucleotide variant (3 prime UTR variant)	Thrombocythemia 1 +1 more	GConflicting classifications of pathogenicity
Select item 2754764	NM_000460.4(THPO):c.1048T>C (p.Ser350Pro)	THPO (S350P +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1584229	NM_000460.4(THPO):c.1032C>T (p.Thr344=)	THPO	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 256211	NM_000460.4(THPO):c.1030A>G (p.Thr344Ala)	THPO (T344A +2 more)	Single nucleotide variant (missense variant +1 more)	Thrombocythemia 1 +2 more	GBenign/Likely benign
Select item 2237464	NM_000460.4(THPO):c.998C>G (p.Thr333Ser)	THPO (T329S +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3177124	NM_000460.4(THPO):c.994C>T (p.Pro332Ser)	THPO (P332S +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 721920	NM_000460.4(THPO):c.993G>A (p.Thr331=)	THPO	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2740189	NM_000460.4(THPO):c.992C>A (p.Thr331Lys)	THPO (T331K +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2413680	NM_000460.4(THPO):c.987T>C (p.Ala329=)	THPO	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2628523	NM_000460.4(THPO):c.983C>A (p.Ser328Tyr)	THPO (S324Y +2 more)	Single nucleotide variant (missense variant +1 more)	THPO-related disorder	GUncertain significance
Select item 2135109	NM_000460.4(THPO):c.973C>T (p.Pro325Ser)	THPO (P321S +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 902535	NM_000460.4(THPO):c.963C>T (p.His321=)	THPO (P316S +1 more)	Single nucleotide variant (synonymous variant +1 more)	Thrombocythemia 1 +1 more	GConflicting classifications of pathogenicity
Select item 2160517	NM_000460.4(THPO):c.957G>C (p.Gln319His)	THPO (Q319H +4 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2168717	NM_000460.4(THPO):c.953T>C (p.Val318Ala)	THPO (V318A +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2187771	NM_000460.4(THPO):c.933C>T (p.Pro311=)	THPO (H306Y +1 more)	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2601746	NM_000460.4(THPO):c.918C>T (p.Leu306=)	THPO (L268F +1 more)	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2785638	NM_000460.4(THPO):c.916C>A (p.Leu306Ile)	THPO (L302I +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2783001	NM_000460.4(THPO):c.894T>C (p.His298=)	THPO (S260P +1 more)	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 344370	NM_000460.4(THPO):c.889A>G (p.Thr297Ala)	THPO (T297A +4 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2443621	NM_000460.4(THPO):c.860A>G (p.Asn287Ser)	THPO (N283S +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 902536	NM_000460.4(THPO):c.852G>A (p.Leu284=)	THPO (A246T +1 more)	Single nucleotide variant (synonymous variant +1 more)	Thrombocythemia 1 +1 more	GBenign/Likely benign
Select item 1475254	NM_000460.4(THPO):c.832A>G (p.Thr278Ala)	THPO (N239S +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1684405	NM_000460.4(THPO):c.825del (p.Ser276fs)	THPO (L237fs +4 more)	Deletion (frameshift variant)	Thrombocytopenia	GPathogenic
Select item 1541165	NM_000460.4(THPO):c.816G>A (p.Pro272=)	THPO (G234R +1 more)	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1919504	NM_000460.4(THPO):c.815C>T (p.Pro272Leu)	THPO (P268L +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 903383	NM_000460.4(THPO):c.808G>A (p.Gly270Arg)	THPO (R231K +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 627388	NM_000460.4(THPO):c.805dup (p.Leu269fs)	THPO (L269fs +2 more)	Duplication (frameshift variant)	Macrothrombocytopenia	GUncertain significance
Select item 903384	NM_000460.4(THPO):c.796C>T (p.Arg266Cys)	THPO (R266C +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 632414	NM_000460.4(THPO):c.791_794del (p.Pro264fs)	THPO (P404fs +4 more)	Deletion (frameshift variant)	Thrombocythemia 1 +1 more	GUncertain significance
Select item 3325953	NM_000460.4(THPO):c.788G>A (p.Gly263Glu)	THPO (G263E +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 593095	NM_000460.4(THPO):c.773G>A (p.Arg258His)	THPO (R258H +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2889253	NM_000460.4(THPO):c.765T>C (p.Asn255=)	THPO (W250R +1 more)	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2084087	NM_000460.4(THPO):c.753C>G (p.His251Gln)	THPO (R213G +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 903385	NM_000460.4(THPO):c.740T>C (p.Leu247Pro)	THPO (L243P +2 more)	Single nucleotide variant (missense variant +1 more)	Thrombocythemia 1	GUncertain significance
Select item 2782415	NM_000460.4(THPO):c.732C>T (p.Pro244=)	THPO (R206W +1 more)	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2420170	NM_000460.4(THPO):c.723C>G (p.Asp241Glu)	THPO (D237E +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2698347	NM_000460.4(THPO):c.704A>G (p.Gln235Arg)	THPO (Q231R +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2876252	NM_000460.4(THPO):c.685A>G (p.Ile229Val)	THPO (D223G +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2916300	NM_000460.4(THPO):c.680C>T (p.Ala227Val)	THPO (A367V +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 344371	NM_000460.4(THPO):c.671G>A (p.Gly224Glu)	THPO (G224E +2 more)	Single nucleotide variant (missense variant +1 more)	Thrombocythemia 1	GUncertain significance
Select item 1049409	NM_000460.4(THPO):c.649G>A (p.Gly217Arg)	THPO (G213R +4 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2387782	NM_000460.4(THPO):c.641C>A (p.Thr214Asn)	THPO (T210N +4 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 289179	NM_000460.4(THPO):c.639T>A (p.Thr213=)	THPO (Y208N +1 more)	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1931089	NM_000460.4(THPO):c.624T>C (p.Thr208=)	THPO (C170R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2891035	NM_000460.4(THPO):c.617_619dup (p.Asn206_Phe207insTyr)	THPO	Duplication (inframe_insertion)	not provided	GUncertain significance
Select item 627348	NM_000460.4(THPO):c.610dup (p.Glu204fs)	THPO (E200fs +4 more)	Duplication (frameshift variant)	Macrothrombocytopenia	GUncertain significance
Select item 3177123	NM_000460.4(THPO):c.606G>T (p.Leu202Phe)	THPO (L202F +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3177122	NM_000460.4(THPO):c.597T>C (p.Thr199=)	THPO (F161L +1 more)	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2076583	NM_000460.4(THPO):c.589A>G (p.Asn197Asp)	THPO (N337D +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 764293	NM_000460.4(THPO):c.579C>T (p.Asn193=)	THPO (R188*)	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1430067	NM_000460.4(THPO):c.524G>A (p.Arg175Gln)	THPO (R175Q +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2896607	NM_000460.4(THPO):c.523C>T (p.Arg175Trp)	THPO (R175W +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 3177121	NM_000460.4(THPO):c.519C>G (p.Val173=)	THPO (Q168E)	Single nucleotide variant (synonymous variant +2 more)	Inborn genetic diseases	GLikely benign
Select item 281426	NM_000460.4(THPO):c.518T>C (p.Val173Ala)	THPO (V173A +2 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 344372	NM_000460.4(THPO):c.517G>A (p.Val173Ile)	THPO (V173I +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 748014	NM_000460.4(THPO):c.516C>T (p.Cys172=)	THPO (R167C)	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2603436	NM_000460.4(THPO):c.515G>A (p.Cys172Tyr)	THPO (C312Y +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3004025	NM_000460.4(THPO):c.505T>C (p.Ser169Pro)	THPO (S165P +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1939651	NM_000460.4(THPO):c.504G>T (p.Gly168=)	THPO (V163F)	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2442041	NM_000460.4(THPO):c.482G>A (p.Arg161His)	THPO (R157H +2 more)	Single nucleotide variant (missense variant +2 more)	Thrombocythemia 1	GUncertain significance
Select item 2965825	NM_000460.4(THPO):c.478G>A (p.Val160Met)	THPO (V156M +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1942776	NM_000460.4(THPO):c.470G>A (p.Arg157Gln)	THPO (R157Q +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1298946	NM_000460.4(THPO):c.469C>T (p.Arg157Ter)	THPO (P151L +3 more)	Single nucleotide variant (nonsense +1 more)	Thrombocytopenia +1 more	GPathogenic
Select item 3325952	NM_000460.4(THPO):c.468C>G (p.Leu156=)	THPO (P151A)	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2719050	NM_000460.4(THPO):c.444C>A (p.Ile148=)	THPO (L143I)	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1261007	NM_000460.4(THPO):c.396+54C>A	THPO	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2977600	NM_000460.4(THPO):c.396+20A>T	THPO	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3251711	NM_000460.4(THPO):c.359T>C (p.Leu120Pro)	THPO (L120P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 197671	NM_000460.4(THPO):c.356G>A (p.Arg119His)	THPO (R119H +1 more)	Single nucleotide variant (missense variant)	Thrombocythemia 1 +2 more	GConflicting classifications of pathogenicity
Select item 2504918	NM_000460.4(THPO):c.355C>T (p.Arg119Cys)	THPO (R119C +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic

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