2696[HGNC] - 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	LOC121740684, LOC121740685 +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	LOC121175342, LOC121740678 +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	LOC129998373, LOC129998374 +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	ABCA13, ADCY1 +426 more	Copy number loss	See cases	GPathogenic
Select item 2285292	NM_001014436.3(DBNL):c.120C>G (p.Ile40Met)	DBNL (I40M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2657417	NM_001014436.3(DBNL):c.123C>T (p.Arg41=)	DBNL (A9V)	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2280432	NM_001014436.3(DBNL):c.457G>C (p.Gly153Arg)	DBNL (G153R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550747	NM_001014436.3(DBNL):c.467C>A (p.Ala156Asp)	DBNL (A53D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325519	NM_001014436.3(DBNL):c.569G>A (p.Arg190His)	DBNL (R190H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291055	NM_001014436.3(DBNL):c.589C>T (p.Arg197Trp)	DBNL (R94W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400801	NM_001014436.3(DBNL):c.595G>A (p.Glu199Lys)	DBNL (E199K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205716	NM_001014436.3(DBNL):c.629G>A (p.Arg210Gln)	DBNL (R107Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464404	NM_001014436.3(DBNL):c.634C>T (p.Arg212Cys)	DBNL (R117C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080201	NM_001014436.3(DBNL):c.656G>T (p.Arg219Leu)	DBNL (R124L +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2341976	NM_001014436.3(DBNL):c.658C>T (p.Arg220Trp)	DBNL (R117W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375709	NM_001014436.3(DBNL):c.670T>C (p.Tyr224His)	DBNL (Y224H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606924	NM_001014436.3(DBNL):c.702G>C (p.Gln234His)	DBNL (Q139H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2657418	NM_001014436.3(DBNL):c.707C>T (p.Thr236Met)	DBNL (T133M +3 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2470760	NM_001014436.3(DBNL):c.743G>A (p.Arg248Gln)	DBNL (R154Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286526	NM_001014436.3(DBNL):c.754-15T>C	DBNL (C256R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3080202	NM_001014436.3(DBNL):c.754-11C>T	DBNL (A256V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2593231	NM_001014436.3(DBNL):c.884C>G (p.Thr295Ser)	DBNL (T295S +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080203	NM_001014436.3(DBNL):c.901C>G (p.Pro301Ala)	DBNL (P309A +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391300	NM_001014436.3(DBNL):c.950C>T (p.Pro317Leu)	DBNL (P214L +5 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3080204	NM_001014436.3(DBNL):c.953C>T (p.Ala318Val)	DBNL (A215V +5 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3024739	NM_001014436.3(DBNL):c.957C>T (p.Pro319=)	DBNL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3080199	NM_001014436.3(DBNL):c.976G>A (p.Val326Met)	DBNL (V326M +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080200	NM_001014436.3(DBNL):c.988G>C (p.Glu330Gln)	DBNL (E338Q +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609483	NM_001014436.3(DBNL):c.1022A>C (p.Glu341Ala)	DBNL (E247A +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214185	NM_001014436.3(DBNL):c.1039C>A (p.Pro347Thr)	DBNL (P253T +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511173	NM_001014436.3(DBNL):c.1061G>C (p.Gly354Ala)	DBNL (G355A +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262445	NM_001014436.3(DBNL):c.1079T>C (p.Ile360Thr)	DBNL (I266T +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487596	NM_001014436.3(DBNL):c.1132G>T (p.Ala378Ser)	DBNL (A284S +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492839	NM_001014436.3(DBNL):c.1216G>A (p.Glu406Lys)	DBNL (E414K +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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)	PGAM2-related disorder +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 +1 more	GUncertain significance
Select item 2321702	NM_000290.4(PGAM2):c.718C>G (p.Arg240Gly)	DBNL, PGAM2 (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)	not provided +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)	PGAM2-related disorder +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)	Inborn genetic diseases +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)	Inborn genetic diseases +1 more	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)	DBNL, PGAM2 (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)	Glycogen storage disease type X +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)	Glycogen storage disease type X +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)	Glycogen storage disease type X +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)	DBNL, LOC129998341 +1 more (R162Q)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases +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)	PGAM2-related disorder +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)	PGAM2-related disorder +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 disorder	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	DBNL, PGAM2	Single nucleotide variant (3 prime UTR variant +1 more)	Glycogen storage disease type X +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

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