5224[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CCDC146, CCDC201 +4735 more	Copy number loss	See cases	GPathogenic
Select item 59680	GRCh38/hg38 7p14.3-q11.21(chr7:33328312-62377476)x3	LOC129389795, LOC129389796 +636 more	Copy number gain	See cases	GPathogenic
Select item 148053	GRCh38/hg38 7p14.1-12.3(chr7:37303478-48660738)x1	ABCA13, ADCY1 +380 more	Copy number loss	See cases	GPathogenic
Select item 154192	GRCh38/hg38 7p14.1-13(chr7:38177999-45304100)x1	AEBP1, AMPH +288 more	Copy number loss	See cases	GPathogenic
Select item 148230	GRCh38/hg38 7p14.1-13(chr7:39063400-45363096)x1	AEBP1, BLVRA +231 more	Copy number loss	See cases	GPathogenic
Select item 59304	GRCh38/hg38 7p14.1-12.3(chr7:39814159-45749735)x1	SNORA5A, SNORA5B +212 more	Copy number loss	See cases	GPathogenic
Select item 147754	GRCh38/hg38 7p14.1-12.1(chr7:40020598-50543500)x1	ABCA13, ADCY1 +317 more	Copy number loss	See cases	GPathogenic
Select item 146855	GRCh38/hg38 7p14.1-11.2(chr7:40534157-56107122)x1	LOC126860033, LOC126860034 +426 more	Copy number loss	See cases	GPathogenic
Select item 1275104	NM_001014436.3(DBNL):c.*1790C>T	DBNL, PGAM2	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 360269	NM_001014436.3(DBNL):c.*1813T>C	DBNL, PGAM2	Single nucleotide variant (3 prime UTR variant)	Glycogen storage disease type X	GUncertain significance
Select item 1060608	NM_000290.4(PGAM2):c.755C>A (p.Ala252Asp)	DBNL, PGAM2 (A252D)	Single nucleotide variant (3 prime UTR variant +1 more)	Glycogen storage disease type X	GUncertain significance
Select item 360270	NM_000290.4(PGAM2):c.726C>T (p.Ala242=)	DBNL, PGAM2	Single nucleotide variant (3 prime UTR variant +1 more)	Glycogen storage disease type X +2 more	GConflicting classifications of pathogenicity
Select item 2184874	NM_000290.4(PGAM2):c.720G>C (p.Arg240=)	DBNL, PGAM2	Single nucleotide variant (3 prime UTR variant +1 more)	Glycogen storage disease type X	GLikely benign
Select item 1015223	NM_000290.4(PGAM2):c.719G>A (p.Arg240Gln)	DBNL, PGAM2 (R240Q)	Single nucleotide variant (3 prime UTR variant +1 more)	Glycogen storage disease type X	GUncertain significance
Select item 2321702	NM_000290.4(PGAM2):c.718C>G (p.Arg240Gly)	PGAM2, DBNL (R240G)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1897022	NM_000290.4(PGAM2):c.714G>A (p.Thr238=)	DBNL, PGAM2	Single nucleotide variant (3 prime UTR variant +1 more)	Glycogen storage disease type X	GLikely benign
Select item 2059166	NM_000290.4(PGAM2):c.713C>T (p.Thr238Met)	DBNL, PGAM2 (T238M)	Single nucleotide variant (3 prime UTR variant +1 more)	Glycogen storage disease type X +2 more	GUncertain significance
Select item 440991	NM_000290.4(PGAM2):c.707A>C (p.Glu236Ala)	DBNL, PGAM2 (E236A)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2875870	NM_000290.4(PGAM2):c.684G>A (p.Lys228=)	DBNL, PGAM2	Single nucleotide variant (3 prime UTR variant +1 more)	Glycogen storage disease type X	GLikely benign
Select item 2069168	NM_000290.4(PGAM2):c.673A>C (p.Lys225Gln)	DBNL, PGAM2 (K225Q)	Single nucleotide variant (3 prime UTR variant +1 more)	Glycogen storage disease type X +1 more	GUncertain significance
Select item 1163867	NM_000290.4(PGAM2):c.644C>A (p.Pro215His)	DBNL, PGAM2 (P215H)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 548650	NM_000290.4(PGAM2):c.637G>A (p.Gly213Arg)	DBNL, PGAM2 (G213R)	Single nucleotide variant (3 prime UTR variant +1 more)	Rhabdomyolysis	GLikely pathogenic
Select item 786783	NM_000290.4(PGAM2):c.636G>A (p.Thr212=)	DBNL, PGAM2	Single nucleotide variant (3 prime UTR variant +1 more)	Glycogen storage disease type X	GLikely benign
Select item 665136	NM_000290.4(PGAM2):c.611C>T (p.Ala204Val)	DBNL, PGAM2 (A204V)	Single nucleotide variant (3 prime UTR variant +1 more)	Glycogen storage disease type X	GUncertain significance
Select item 360271	NM_001014436.3(DBNL):c.*2017A>G	DBNL, PGAM2	Single nucleotide variant (3 prime UTR variant +1 more)	Glycogen storage disease type X	GBenign/Likely benign
Select item 1424881	NM_001014436.3(DBNL):c.*2021C>T	DBNL, PGAM2	Single nucleotide variant (3 prime UTR variant +1 more)	Glycogen storage disease type X	GUncertain significance
Select item 2427882	NM_001014436.3(DBNL):c.*2022G>A	DBNL, PGAM2	Single nucleotide variant (3 prime UTR variant +1 more)	Glycogen storage disease type X	GLikely benign
Select item 2191895	NM_001014436.3(DBNL):c.*2031A>G	DBNL, PGAM2	Single nucleotide variant (3 prime UTR variant +1 more)	Glycogen storage disease type X	GLikely benign
Select item 1250168	NM_001014436.3(DBNL):c.*3704A>G	DBNL, PGAM2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1926608	NM_001014436.3(DBNL):c.*3899C>T	PGAM2, DBNL	Single nucleotide variant (3 prime UTR variant +1 more)	Glycogen storage disease type X	GLikely benign
Select item 1549388	NM_001014436.3(DBNL):c.*3905G>A	DBNL, PGAM2	Single nucleotide variant (3 prime UTR variant +1 more)	Glycogen storage disease type X	GLikely benign
Select item 2146515	NM_001014436.3(DBNL):c.*3913C>A	DBNL, PGAM2	Single nucleotide variant (3 prime UTR variant +1 more)	Glycogen storage disease type X	GUncertain significance
Select item 1909487	NM_000290.4(PGAM2):c.595G>T (p.Gly199Trp)	DBNL, PGAM2 (G199W)	Single nucleotide variant (3 prime UTR variant +1 more)	Glycogen storage disease type X	GUncertain significance
Select item 2284882	NM_000290.4(PGAM2):c.578T>C (p.Ile193Thr)	PGAM2, DBNL (I193T)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 852765	NM_000290.4(PGAM2):c.576C>T (p.Gly192=)	PGAM2, DBNL	Single nucleotide variant (3 prime UTR variant +1 more)	Glycogen storage disease type X	GUncertain significance
Select item 911378	NM_000290.4(PGAM2):c.571C>T (p.Arg191Trp)	DBNL, PGAM2 (R191W)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2042946	NM_000290.4(PGAM2):c.558C>T (p.His186=)	DBNL, PGAM2	Single nucleotide variant (3 prime UTR variant +1 more)	Glycogen storage disease type X	GLikely benign
Select item 1058779	NM_000290.4(PGAM2):c.545T>C (p.Leu182Pro)	DBNL, PGAM2 (L182P)	Single nucleotide variant (3 prime UTR variant +1 more)	Glycogen storage disease type X	GUncertain significance
Select item 2136502	NM_000290.4(PGAM2):c.538C>T (p.Arg180Ter)	DBNL, PGAM2 (R180*)	Single nucleotide variant (3 prime UTR variant +1 more)	Glycogen storage disease type X	GPathogenic
Select item 587530	NM_000290.4(PGAM2):c.533del (p.Gly178fs)	DBNL, PGAM2 (G178fs)	Deletion (3 prime UTR variant +1 more)	Glycogen storage disease type X +1 more	GPathogenic/Likely pathogenic
Select item 1380227	NM_000290.4(PGAM2):c.532G>A (p.Gly178Ser)	DBNL, PGAM2 (G178S)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 515343	NM_000290.4(PGAM2):c.531C>G (p.Ala177=)	DBNL, PGAM2	Single nucleotide variant (3 prime UTR variant +1 more)	not specified +1 more	GLikely benign
Select item 1380884	NM_000290.4(PGAM2):c.515T>G (p.Val172Gly)	DBNL, LOC129998341 +1 more (V172G)	Single nucleotide variant (3 prime UTR variant +1 more)	Glycogen storage disease type X	GUncertain significance
Select item 911379	NM_000290.4(PGAM2):c.511A>C (p.Ile171Leu)	PGAM2, DBNL +1 more (I171L)	Single nucleotide variant (3 prime UTR variant +1 more)	Glycogen storage disease type X	GUncertain significance
Select item 432232	NM_000290.4(PGAM2):c.511A>G (p.Ile171Val)	DBNL, LOC129998341 +1 more (I171V)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2184369	NM_000290.4(PGAM2):c.505G>A (p.Glu169Lys)	DBNL, LOC129998341 +1 more (E169K)	Single nucleotide variant (3 prime UTR variant +1 more)	Glycogen storage disease type X	GUncertain significance
Select item 1983278	NM_000290.4(PGAM2):c.504C>T (p.Asn168=)	DBNL, LOC129998341 +1 more	Single nucleotide variant (3 prime UTR variant +1 more)	Glycogen storage disease type X	GLikely benign
Select item 1936561	NM_000290.4(PGAM2):c.501G>C (p.Trp167Cys)	DBNL, LOC129998341 +1 more (W167C)	Single nucleotide variant (3 prime UTR variant +1 more)	Glycogen storage disease type X	GUncertain significance
Select item 911380	NM_000290.4(PGAM2):c.501G>T (p.Trp167Cys)	DBNL, LOC129998341 +1 more (W167C)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +2 more	GUncertain significance
Select item 1669450	NM_000290.4(PGAM2):c.489C>T (p.Ala163=)	DBNL, LOC129998341 +1 more	Single nucleotide variant (3 prime UTR variant +1 more)	Glycogen storage disease type X	GLikely benign
Select item 2434672	NM_000290.4(PGAM2):c.485G>C (p.Arg162Pro)	DBNL, LOC129998341 +1 more (R162P)	Single nucleotide variant (3 prime UTR variant +1 more)	Glycogen storage disease type X	GUncertain significance
Select item 2140958	NM_000290.4(PGAM2):c.485G>A (p.Arg162Gln)	LOC129998341, PGAM2 +1 more (R162Q)	Single nucleotide variant (3 prime UTR variant +1 more)	Glycogen storage disease type X +1 more	GUncertain significance
Select item 195058	NM_000290.4(PGAM2):c.484C>T (p.Arg162Trp)	DBNL, LOC129998341 +1 more (R162W)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2496092	NM_000290.4(PGAM2):c.482C>T (p.Ala161Val)	DBNL, LOC129998341 +1 more (A161V)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 911381	NM_000290.4(PGAM2):c.480T>C (p.Ile160=)	DBNL, LOC129998341 +1 more	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2530082	NM_000290.4(PGAM2):c.463A>C (p.Ser155Arg)	DBNL, PGAM2 (S155R)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2136503	NM_000290.4(PGAM2):c.460G>A (p.Glu154Lys)	PGAM2, DBNL (E154K)	Single nucleotide variant (3 prime UTR variant +1 more)	Glycogen storage disease type X	GUncertain significance
Select item 360272	NM_000290.4(PGAM2):c.459C>T (p.Cys153=)	DBNL, PGAM2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 911382	NM_000290.4(PGAM2):c.455C>T (p.Thr152Ile)	DBNL, PGAM2 (T152I)	Single nucleotide variant (3 prime UTR variant +1 more)	Glycogen storage disease type X +2 more	GConflicting classifications of pathogenicity
Select item 2755621	NM_000290.4(PGAM2):c.442G>C (p.Gly148Arg)	DBNL, PGAM2 (G148R)	Single nucleotide variant (3 prime UTR variant +1 more)	Glycogen storage disease type X	GUncertain significance
Select item 2182447	NM_000290.4(PGAM2):c.441C>T (p.Pro147=)	DBNL, PGAM2	Single nucleotide variant (3 prime UTR variant +1 more)	Glycogen storage disease type X	GLikely benign
Select item 2415007	NM_000290.4(PGAM2):c.431G>A (p.Gly144Asp)	DBNL, PGAM2 (G144D)	Single nucleotide variant (3 prime UTR variant +1 more)	Glycogen storage disease type X	GUncertain significance
Select item 2635672	NM_000290.4(PGAM2):c.427G>A (p.Ala143Thr)	DBNL, PGAM2 (A143T)	Single nucleotide variant (3 prime UTR variant +1 more)	PGAM2-related condition	GUncertain significance
Select item 360273	NM_000290.4(PGAM2):c.426C>T (p.Tyr142=)	DBNL, PGAM2	Single nucleotide variant (3 prime UTR variant +1 more)	Glycogen storage disease type X	GUncertain significance
Select item 2194940	NM_000290.4(PGAM2):c.422G>A (p.Arg141Gln)	DBNL, PGAM2 (R141Q)	Single nucleotide variant (3 prime UTR variant +1 more)	Glycogen storage disease type X	GUncertain significance
Select item 2173394	NM_000290.4(PGAM2):c.419G>A (p.Arg140His)	PGAM2, DBNL (R140H)	Single nucleotide variant (3 prime UTR variant +1 more)	Glycogen storage disease type X	GUncertain significance
Select item 513506	NM_001014436.3(DBNL):c.*4099G>A	PGAM2, DBNL	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1982378	NM_001014436.3(DBNL):c.*4100G>A	DBNL, PGAM2	Single nucleotide variant (3 prime UTR variant +1 more)	Glycogen storage disease type X	GLikely benign
Select item 1578507	NM_001014436.3(DBNL):c.*4101G>A	DBNL, PGAM2	Single nucleotide variant (3 prime UTR variant +1 more)	Glycogen storage disease type X	GLikely benign
Select item 2719100	NM_001014436.3(DBNL):c.*4108A>C	DBNL, PGAM2	Single nucleotide variant (3 prime UTR variant +1 more)	Glycogen storage disease type X	GLikely benign
Select item 385446	NM_001014436.3(DBNL):c.*4113C>T	DBNL, PGAM2	Single nucleotide variant (3 prime UTR variant +1 more)	not specified +1 more	GLikely benign
Select item 1218525	NM_001014436.3(DBNL):c.*4164A>G	DBNL, PGAM2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2140727	NM_001014436.3(DBNL):c.*4191G>A	DBNL, PGAM2	Single nucleotide variant (3 prime UTR variant +1 more)	Glycogen storage disease type X	GLikely benign
Select item 1059765	NM_001014436.3(DBNL):c.*4194G>A	PGAM2, DBNL	Single nucleotide variant (3 prime UTR variant +1 more)	Glycogen storage disease type X	GUncertain significance
Select item 2991153	NM_000290.4(PGAM2):c.393C>T (p.Pro131=)	DBNL, PGAM2	Single nucleotide variant (3 prime UTR variant +1 more)	Glycogen storage disease type X	GLikely benign
Select item 2434671	NM_000290.4(PGAM2):c.382G>A (p.Glu128Lys)	DBNL, PGAM2 (E128K)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 1593537	NM_000290.4(PGAM2):c.381C>T (p.Asp127=)	DBNL, PGAM2	Single nucleotide variant (3 prime UTR variant +1 more)	Glycogen storage disease type X	GLikely benign
Select item 360274	NM_000290.4(PGAM2):c.375G>A (p.Pro125=)	DBNL, LOC129998342 +1 more	Single nucleotide variant (3 prime UTR variant +1 more)	Glycogen storage disease type X +1 more	GBenign/Likely benign
Select item 663111	NM_000290.4(PGAM2):c.374C>T (p.Pro125Leu)	DBNL, LOC129998342 +1 more (P125L)	Single nucleotide variant (3 prime UTR variant +1 more)	Glycogen storage disease type X	GUncertain significance
Select item 2844065	NM_000290.4(PGAM2):c.372C>A (p.Pro124=)	DBNL, LOC129998342 +1 more	Single nucleotide variant (3 prime UTR variant +1 more)	Glycogen storage disease type X	GLikely benign
Select item 2145181	NM_000290.4(PGAM2):c.369G>A (p.Pro123=)	DBNL, LOC129998342 +1 more	Single nucleotide variant (3 prime UTR variant +1 more)	Glycogen storage disease type X	GLikely benign
Select item 2321542	NM_000290.4(PGAM2):c.368C>T (p.Pro123Leu)	DBNL, LOC129998342 +1 more (P123L)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1370191	NM_000290.4(PGAM2):c.368C>G (p.Pro123Arg)	DBNL, LOC129998342 +1 more (P123R)	Single nucleotide variant (3 prime UTR variant +1 more)	Glycogen storage disease type X	GUncertain significance
Select item 360275	NM_000290.4(PGAM2):c.366G>A (p.Pro122=)	DBNL, LOC129998342 +1 more	Single nucleotide variant (3 prime UTR variant +1 more)	PGAM2-related condition +3 more	GBenign/Likely benign
Select item 947508	NM_000290.4(PGAM2):c.365C>T (p.Pro122Leu)	PGAM2, DBNL +1 more (P122L)	Single nucleotide variant (3 prime UTR variant +1 more)	Glycogen storage disease type X	GUncertain significance
Select item 1602236	NM_000290.4(PGAM2):c.363C>T (p.Ile121=)	DBNL, LOC129998342 +1 more	Single nucleotide variant (3 prime UTR variant +1 more)	Glycogen storage disease type X +1 more	GLikely benign
Select item 1903908	NM_000290.4(PGAM2):c.359A>G (p.Asp120Gly)	DBNL, LOC129998342 +1 more (D120G)	Single nucleotide variant (3 prime UTR variant +1 more)	Glycogen storage disease type X	GUncertain significance
Select item 2052994	NM_000290.4(PGAM2):c.350G>A (p.Arg117His)	DBNL, LOC129998342 +1 more (R117H)	Single nucleotide variant (3 prime UTR variant +1 more)	Glycogen storage disease type X	GUncertain significance
Select item 2194002	NM_000290.4(PGAM2):c.342C>T (p.Ile114=)	LOC129998342, DBNL +1 more	Single nucleotide variant (3 prime UTR variant +1 more)	Glycogen storage disease type X	GLikely benign
Select item 360276	NM_000290.4(PGAM2):c.341T>G (p.Ile114Ser)	DBNL, LOC129998342 +1 more (I114S)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified +1 more	GBenign
Select item 1073237	NM_000290.4(PGAM2):c.331C>T (p.Gln111Ter)	DBNL, LOC129998342 +1 more (Q111*)	Single nucleotide variant (3 prime UTR variant +1 more)	Glycogen storage disease type X	GPathogenic
Select item 2711989	NM_000290.4(PGAM2):c.330G>A (p.Glu110=)	DBNL, LOC129998342 +1 more	Single nucleotide variant (3 prime UTR variant +1 more)	Glycogen storage disease type X	GLikely benign
Select item 360277	NM_000290.4(PGAM2):c.324G>A (p.Gly108=)	DBNL, PGAM2	Single nucleotide variant (3 prime UTR variant +1 more)	not specified +1 more	GBenign
Select item 2959446	NM_000290.4(PGAM2):c.321C>T (p.His107=)	DBNL, PGAM2	Single nucleotide variant (3 prime UTR variant +1 more)	Glycogen storage disease type X	GLikely benign
Select item 2244547	NM_000290.4(PGAM2):c.321C>G (p.His107Gln)	DBNL, PGAM2 (H107Q)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2279770	NM_000290.4(PGAM2):c.318G>C (p.Lys106Asn)	PGAM2, DBNL (K106N)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1693950	NM_000290.4(PGAM2):c.310GCC[1] (p.Ala105del)	DBNL, PGAM2 (A105del)	Microsatellite (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 289850	NM_000290.4(PGAM2):c.310G>A (p.Ala104Thr)	DBNL, PGAM2 (A104T)	Single nucleotide variant (3 prime UTR variant +1 more)	Glycogen storage disease type X +2 more	GConflicting classifications of pathogenicity
Select item 1987302	NM_000290.4(PGAM2):c.309G>A (p.Thr103=)	DBNL, PGAM2	Single nucleotide variant (3 prime UTR variant +1 more)	Glycogen storage disease type X	GLikely benign
Select item 1313676	NM_000290.4(PGAM2):c.308C>T (p.Thr103Met)	DBNL, PGAM2 (T103M)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance

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