8124[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 58547	GRCh38/hg38 7p13-12.3(chr7:44193369-46558381)x1	ADCY1, CAMK2B +95 more	Copy number loss	See cases	GPathogenic
Select item 151519	GRCh38/hg38 7p13(chr7:44345798-45076469)x3	CCM2, DDX56 +58 more	Copy number gain	See cases	GUncertain significance
Select item 145645	GRCh38/hg38 7p13-12.1(chr7:44571949-53699760)x1	ABCA13, ADCY1 +200 more	Copy number loss	See cases	GPathogenic
Select item 1355335	NM_002541.4(OGDH):c.7C>T (p.His3Tyr)	OGDH (H3Y)	Single nucleotide variant (missense variant)	Oxoglutaricaciduria	GUncertain significance
Select item 2178426	NM_002541.4(OGDH):c.18T>C (p.Thr6=)	OGDH	Single nucleotide variant (synonymous variant)	Oxoglutaricaciduria	GLikely benign
Select item 2151753	NM_002541.4(OGDH):c.39A>G (p.Pro13=)	OGDH	Single nucleotide variant (synonymous variant)	Oxoglutaricaciduria	GLikely benign
Select item 559267	NM_002541.4(OGDH):c.39A>C (p.Pro13=)	OGDH	Single nucleotide variant (synonymous variant)	Oxoglutaricaciduria +2 more	GBenign/Likely benign
Select item 2914466	NM_002541.4(OGDH):c.45G>A (p.Thr15=)	OGDH	Single nucleotide variant (synonymous variant)	Oxoglutaricaciduria	GLikely benign
Select item 2481891	NM_002541.4(OGDH):c.71C>T (p.Ser24Leu)	OGDH (S24L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2059400	NM_002541.4(OGDH):c.80G>T (p.Arg27Ile)	OGDH (R27I)	Single nucleotide variant (missense variant)	Oxoglutaricaciduria	GUncertain significance
Select item 2063678	NM_002541.4(OGDH):c.89C>T (p.Ala30Val)	OGDH (A30V)	Single nucleotide variant (missense variant)	Oxoglutaricaciduria	GUncertain significance
Select item 745594	NM_002541.4(OGDH):c.111T>A (p.Ile37=)	OGDH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2591714	NM_002541.4(OGDH):c.113G>A (p.Arg38Gln)	OGDH (R38Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204088	NM_002541.4(OGDH):c.130G>T (p.Val44Phe)	OGDH (V44F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204090	NM_002541.4(OGDH):c.161G>A (p.Ser54Asn)	OGDH (S54N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 780042	NM_002541.4(OGDH):c.164C>T (p.Ser55Leu)	OGDH (S55L)	Single nucleotide variant (missense variant)	Oxoglutaricaciduria +2 more	GBenign
Select item 3044784	NM_002541.4(OGDH):c.171T>C (p.Tyr57=)	OGDH	Single nucleotide variant (synonymous variant)	OGDH-related disorder	GLikely benign
Select item 744747	NM_002541.4(OGDH):c.222+9C>T	OGDH	Single nucleotide variant (intron variant)	Oxoglutaricaciduria	GBenign
Select item 2162332	NM_002541.4(OGDH):c.249G>A (p.Thr83=)	OGDH	Single nucleotide variant (synonymous variant)	Oxoglutaricaciduria	GLikely benign
Select item 1665186	NM_002541.4(OGDH):c.255C>T (p.Ala85=)	OGDH	Single nucleotide variant (synonymous variant)	Oxoglutaricaciduria	GLikely benign
Select item 2200895	NM_002541.4(OGDH):c.267G>A (p.Pro89=)	OGDH	Single nucleotide variant (synonymous variant)	Oxoglutaricaciduria	GLikely benign
Select item 2150529	NM_002541.4(OGDH):c.293C>T (p.Pro98Leu)	OGDH (P98L)	Single nucleotide variant (missense variant)	Oxoglutaricaciduria	GUncertain significance
Select item 1992533	NM_002541.4(OGDH):c.294C>T (p.Pro98=)	OGDH	Single nucleotide variant (synonymous variant)	Oxoglutaricaciduria	GLikely benign
Select item 2903104	NM_002541.4(OGDH):c.327T>C (p.His109=)	OGDH	Single nucleotide variant (synonymous variant)	Oxoglutaricaciduria	GLikely benign
Select item 559268	NM_002541.4(OGDH):c.345A>G (p.Glu115=)	OGDH	Single nucleotide variant (synonymous variant)	Oxoglutaricaciduria	GBenign
Select item 721829	NM_002541.4(OGDH):c.357C>T (p.Asn119=)	OGDH	Single nucleotide variant (synonymous variant)	Oxoglutaricaciduria	GBenign
Select item 559269	NM_002541.4(OGDH):c.396G>A (p.Ser132=)	OGDH	Single nucleotide variant (synonymous variant)	OGDH-related disorder +1 more	GBenign
Select item 2173044	NM_002541.4(OGDH):c.405G>A (p.Arg135=)	OGDH	Single nucleotide variant (synonymous variant)	Oxoglutaricaciduria	GLikely benign
Select item 3002965	NM_002541.4(OGDH):c.414+13C>T	OGDH	Single nucleotide variant (intron variant)	Oxoglutaricaciduria	GLikely benign
Select item 2860110	NM_002541.4(OGDH):c.414+20C>T	OGDH	Single nucleotide variant (intron variant)	Oxoglutaricaciduria	GBenign
Select item 2123476	NM_002541.4(OGDH):c.415-14T>C	OGDH	Single nucleotide variant (intron variant)	Oxoglutaricaciduria	GLikely benign
Select item 721330	NM_002541.4(OGDH):c.474C>T (p.Asp158=)	OGDH	Single nucleotide variant (synonymous variant +1 more)	OGDH-related disorder +1 more	GLikely benign
Select item 1447719	NM_002541.4(OGDH):c.505A>G (p.Thr169Ala)	OGDH (T169A)	Single nucleotide variant (missense variant +1 more)	Oxoglutaricaciduria	GUncertain significance
Select item 2850383	NM_002541.4(OGDH):c.518-15C>T	OGDH	Single nucleotide variant (intron variant)	Oxoglutaricaciduria	GBenign
Select item 3204094	NM_002541.4(OGDH):c.552G>C (p.Lys184Asn)	OGDH (K180N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2443831	NM_002541.4(OGDH):c.566C>T (p.Pro189Leu)	OGDH (P189L +2 more)	Single nucleotide variant (missense variant)	Oxoglutaricaciduria	GPathogenic
Select item 2147693	NM_002541.4(OGDH):c.610C>T (p.Arg204Trp)	OGDH (R215W +2 more)	Single nucleotide variant (missense variant)	Oxoglutaricaciduria	GUncertain significance
Select item 2488531	NM_002541.4(OGDH):c.619A>T (p.Ile207Phe)	OGDH (I203F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 937040	NM_002541.4(OGDH):c.622C>T (p.Arg208Cys)	OGDH (R208C +2 more)	Single nucleotide variant (missense variant)	Oxoglutaricaciduria	GUncertain significance
Select item 2121440	NM_002541.4(OGDH):c.633+16G>C	OGDH	Single nucleotide variant (intron variant)	Oxoglutaricaciduria	GLikely benign
Select item 559270	NM_002541.4(OGDH):c.637G>A (p.Ala213Thr)	OGDH (A213T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2540983	NM_002541.4(OGDH):c.679G>C (p.Asp227His)	OGDH (D238H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2183996	NM_002541.4(OGDH):c.755G>A (p.Arg252Gln)	OGDH (R263Q +2 more)	Single nucleotide variant (missense variant)	Oxoglutaricaciduria	GUncertain significance
Select item 1898873	NM_002541.4(OGDH):c.770G>A (p.Arg257Lys)	OGDH (R257K +2 more)	Single nucleotide variant (missense variant)	Oxoglutaricaciduria	GUncertain significance
Select item 2597220	NM_002541.4(OGDH):c.779G>A (p.Arg260Gln)	OGDH (R256Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1388894	NM_002541.4(OGDH):c.798G>T (p.Glu266Asp)	OGDH (E262D +2 more)	Single nucleotide variant (missense variant)	Oxoglutaricaciduria	GUncertain significance
Select item 1357689	NM_002541.4(OGDH):c.881T>C (p.Ile294Thr)	OGDH (I294T +2 more)	Single nucleotide variant (missense variant)	Oxoglutaricaciduria	GUncertain significance
Select item 2443830	NM_002541.4(OGDH):c.890C>A (p.Ser297Tyr)	OGDH (S297Y +2 more)	Single nucleotide variant (missense variant)	Oxoglutaricaciduria	GPathogenic
Select item 943397	NM_002541.4(OGDH):c.904G>C (p.Val302Leu)	OGDH (V302L +2 more)	Single nucleotide variant (missense variant)	Oxoglutaricaciduria	GUncertain significance
Select item 798242	NM_002541.4(OGDH):c.913G>A (p.Val305Met)	OGDH (V305M +2 more)	Single nucleotide variant (missense variant)	Oxoglutaricaciduria	GLikely benign
Select item 2443832	NM_002541.4(OGDH):c.935G>A (p.Arg312Lys)	OGDH (R308K +2 more)	Single nucleotide variant (missense variant)	Oxoglutaricaciduria	GPathogenic
Select item 1628521	NM_002541.4(OGDH):c.935+15G>A	OGDH	Single nucleotide variant (intron variant)	Oxoglutaricaciduria	GBenign
Select item 2918616	NM_002541.4(OGDH):c.936-17T>G	OGDH	Single nucleotide variant (intron variant)	Oxoglutaricaciduria	GUncertain significance
Select item 2065158	NM_002541.4(OGDH):c.936-16C>T	OGDH	Single nucleotide variant (intron variant)	Oxoglutaricaciduria	GLikely benign
Select item 3051775	NM_002541.4(OGDH):c.936-8C>T	OGDH	Single nucleotide variant (intron variant)	OGDH-related disorder	GLikely benign
Select item 559271	NM_002541.4(OGDH):c.936-7G>A	OGDH	Single nucleotide variant (intron variant)	Oxoglutaricaciduria +1 more	GBenign/Likely benign
Select item 734320	NM_002541.4(OGDH):c.948C>T (p.Asn316=)	OGDH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1912674	NM_002541.4(OGDH):c.958A>G (p.Asn320Asp)	OGDH (N320D +2 more)	Single nucleotide variant (missense variant)	Oxoglutaricaciduria	GUncertain significance
Select item 1331346	NM_002541.4(OGDH):c.959A>G (p.Asn320Ser)	OGDH (N316S +1 more)	Single nucleotide variant (missense variant)	Oxoglutaricaciduria	GPathogenic
Select item 1012998	NM_002541.4(OGDH):c.1011G>A (p.Leu337=)	OGDH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2140332	NM_002541.4(OGDH):c.1026+6G>A	OGDH	Single nucleotide variant (intron variant)	Oxoglutaricaciduria	GUncertain significance
Select item 1983248	NM_002541.4(OGDH):c.1027-9C>T	OGDH	Single nucleotide variant (intron variant)	Oxoglutaricaciduria	GLikely benign
Select item 1643526	NM_002541.4(OGDH):c.1032C>T (p.Ser344=)	OGDH	Single nucleotide variant (synonymous variant)	OGDH-related disorder +1 more	GBenign/Likely benign
Select item 1079231	NM_002541.4(OGDH):c.1128C>T (p.His376=)	OGDH	Single nucleotide variant (synonymous variant)	Oxoglutaricaciduria	GLikely benign
Select item 2058242	NM_002541.4(OGDH):c.1137C>T (p.Ala379=)	OGDH	Single nucleotide variant (synonymous variant)	Oxoglutaricaciduria	GBenign
Select item 1547388	NM_002541.4(OGDH):c.1146C>T (p.Pro382=)	OGDH	Single nucleotide variant (synonymous variant)	Oxoglutaricaciduria	GLikely benign
Select item 2058244	NM_002541.4(OGDH):c.1152G>A (p.Val384=)	OGDH	Single nucleotide variant (synonymous variant)	Oxoglutaricaciduria	GBenign
Select item 2218587	NM_002541.4(OGDH):c.1171G>A (p.Glu391Lys)	OGDH (E402K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603192	NM_002541.4(OGDH):c.1183T>C (p.Cys395Arg)	OGDH (C406R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 791078	NM_002541.4(OGDH):c.1188C>T (p.Gly396=)	OGDH	Single nucleotide variant (synonymous variant)	OGDH-related disorder +2 more	GBenign/Likely benign
Select item 1598081	NM_002541.4(OGDH):c.1206+19C>A	OGDH (R409S)	Single nucleotide variant (missense variant +1 more)	OGDH-related disorder +1 more	GBenign/Likely benign
Select item 732737	NM_002541.4(OGDH):c.1221G>A (p.Leu407=)	OGDH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2739982	NM_002541.4(OGDH):c.1317C>T (p.His439=)	OGDH	Single nucleotide variant (synonymous variant)	Oxoglutaricaciduria	GLikely benign
Select item 752720	NM_002541.4(OGDH):c.1323C>T (p.Val441=)	OGDH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1595284	NM_002541.4(OGDH):c.1335+19C>T	OGDH	Single nucleotide variant (intron variant)	Oxoglutaricaciduria	GLikely benign
Select item 3204089	NM_002541.4(OGDH):c.1396C>G (p.Arg466Gly)	OGDH (R477G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 725200	NM_002541.4(OGDH):c.1422C>T (p.His474=)	OGDH	Single nucleotide variant (synonymous variant)	Oxoglutaricaciduria	GBenign
Select item 1597659	NM_002541.4(OGDH):c.1440C>T (p.Pro480=)	OGDH	Single nucleotide variant (synonymous variant)	Oxoglutaricaciduria	GLikely benign
Select item 1445925	NM_002541.4(OGDH):c.1456G>A (p.Val486Met)	OGDH (V497M +2 more)	Single nucleotide variant (missense variant)	Oxoglutaricaciduria	GUncertain significance
Select item 2814871	NM_002541.4(OGDH):c.1470G>C (p.Ala490=)	OGDH	Single nucleotide variant (synonymous variant)	Oxoglutaricaciduria	GLikely benign
Select item 1381193	NM_002541.4(OGDH):c.1474G>T (p.Glu492Ter)	OGDH (E488* +2 more)	Single nucleotide variant (nonsense)	Oxoglutaricaciduria	GUncertain significance
Select item 2150790	NM_002541.4(OGDH):c.1483A>C (p.Ser495Arg)	OGDH (S495R +2 more)	Single nucleotide variant (missense variant)	Oxoglutaricaciduria	GUncertain significance
Select item 721994	NM_002541.4(OGDH):c.1516-4G>A	OGDH	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 707974	NM_002541.4(OGDH):c.1533C>T (p.Asn511=)	OGDH	Single nucleotide variant (synonymous variant)	Oxoglutaricaciduria	GLikely benign
Select item 1650649	NM_002541.4(OGDH):c.1542C>T (p.Asn514=)	OGDH	Single nucleotide variant (synonymous variant)	OGDH-related disorder +1 more	GLikely benign
Select item 2054870	NM_002541.4(OGDH):c.1595A>G (p.Lys532Arg)	OGDH (K532R +2 more)	Single nucleotide variant (missense variant)	Oxoglutaricaciduria +1 more	GUncertain significance
Select item 2718701	NM_002541.4(OGDH):c.1638G>A (p.Ser546=)	OGDH	Single nucleotide variant (synonymous variant)	Oxoglutaricaciduria	GLikely benign
Select item 984383	NM_002541.4(OGDH):c.1643G>C (p.Gly548Ala)	OGDH (G544A +2 more)	Single nucleotide variant (missense variant)	Oxoglutaricaciduria	GUncertain significance
Select item 1087513	NM_002541.4(OGDH):c.1659T>C (p.Pro553=)	OGDH	Single nucleotide variant (synonymous variant)	OGDH-related disorder +1 more	GLikely benign
Select item 1547603	NM_002541.4(OGDH):c.1668+13G>A	OGDH	Single nucleotide variant (intron variant)	Oxoglutaricaciduria	GLikely benign
Select item 2165601	NM_002541.4(OGDH):c.1771+16G>A	OGDH	Single nucleotide variant (intron variant)	Oxoglutaricaciduria	GLikely benign
Select item 2912114	NM_002541.4(OGDH):c.1772-16G>A	OGDH	Single nucleotide variant (intron variant)	Oxoglutaricaciduria	GLikely benign

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