ClinVar for MedGen (Select 414553) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3367070	NM_002541.4(OGDH):c.44C>T (p.Thr15Met)	OGDH (T15M)	Single nucleotide variant (missense variant)	Oxoglutaricaciduria	GUncertain significance
Select item 3340144	NM_002541.4(OGDH):c.1669-9A>G	OGDH	Single nucleotide variant (intron variant)	Oxoglutaricaciduria	GLikely pathogenic
Select item 3002965	NM_002541.4(OGDH):c.414+13C>T	OGDH	Single nucleotide variant (intron variant)	Oxoglutaricaciduria	GLikely benign
Select item 2981620	NM_002541.4(OGDH):c.1825C>G (p.Leu609Val)	OGDH (L620V +2 more)	Single nucleotide variant (missense variant)	Oxoglutaricaciduria	GUncertain significance
Select item 2974230	NM_002541.4(OGDH):c.2632+7G>T	OGDH	Single nucleotide variant (intron variant)	Oxoglutaricaciduria	GLikely benign
Select item 2964461	NM_002541.4(OGDH):c.1995G>A (p.Leu665=)	OGDH	Single nucleotide variant (synonymous variant)	Oxoglutaricaciduria	GLikely benign
Select item 2918616	NM_002541.4(OGDH):c.936-17T>G	OGDH	Single nucleotide variant (intron variant)	Oxoglutaricaciduria	GUncertain significance
Select item 2914466	NM_002541.4(OGDH):c.45G>A (p.Thr15=)	OGDH	Single nucleotide variant (synonymous variant)	Oxoglutaricaciduria	GLikely benign
Select item 2912114	NM_002541.4(OGDH):c.1772-16G>A	OGDH	Single nucleotide variant (intron 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 2899454	NM_002541.4(OGDH):c.2520C>T (p.His840=)	OGDH	Single nucleotide variant (synonymous variant)	Oxoglutaricaciduria	GLikely benign
Select item 2897021	NM_002541.4(OGDH):c.2526A>G (p.Leu842=)	OGDH	Single nucleotide variant (synonymous 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 2850383	NM_002541.4(OGDH):c.518-15C>T	OGDH	Single nucleotide variant (intron variant)	Oxoglutaricaciduria	GBenign
Select item 2837903	NM_002541.4(OGDH):c.1783C>T (p.Leu595=)	OGDH	Single nucleotide variant (synonymous variant)	Oxoglutaricaciduria	GLikely benign
Select item 2814871	NM_002541.4(OGDH):c.1470G>C (p.Ala490=)	OGDH	Single nucleotide variant (synonymous variant)	Oxoglutaricaciduria	GLikely benign
Select item 2770734	NM_002541.4(OGDH):c.1992C>A (p.Leu664=)	OGDH	Single nucleotide variant (synonymous variant)	Oxoglutaricaciduria	GLikely benign
Select item 2745793	NM_002541.4(OGDH):c.1788C>T (p.Asp596=)	OGDH	Single nucleotide variant (synonymous variant)	Oxoglutaricaciduria	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 2727220	NM_002541.4(OGDH):c.1974C>T (p.Tyr658=)	OGDH	Single nucleotide variant (synonymous variant)	Oxoglutaricaciduria	GLikely benign
Select item 2718701	NM_002541.4(OGDH):c.1638G>A (p.Ser546=)	OGDH	Single nucleotide variant (synonymous variant)	Oxoglutaricaciduria	GLikely benign
Select item 2699777	NM_002541.4(OGDH):c.2797-10T>C	OGDH	Single nucleotide variant (intron variant)	Oxoglutaricaciduria	GLikely benign
Select item 2637941	NM_001933.5(DLST):c.1307T>A (p.Leu436His)	DLST (L436H)	Single nucleotide variant (missense variant +1 more)	Oxoglutaricaciduria	GUncertain significance
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 2443831	NM_002541.4(OGDH):c.566C>T (p.Pro189Leu)	OGDH (P189L +2 more)	Single nucleotide variant (missense variant)	Oxoglutaricaciduria	GPathogenic
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 2434499	NM_002541.4(OGDH):c.2761A>G (p.Met921Val)	OGDH (M917V +2 more)	Single nucleotide variant (missense variant)	Oxoglutaricaciduria	GUncertain significance
Select item 2414607	NM_002541.4(OGDH):c.2444C>T (p.Ala815Val)	OGDH (A811V +2 more)	Single nucleotide variant (missense variant)	Oxoglutaricaciduria	GUncertain significance
Select item 2202762	NM_002541.4(OGDH):c.2451C>T (p.Phe817=)	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 2183996	NM_002541.4(OGDH):c.755G>A (p.Arg252Gln)	OGDH (R263Q +2 more)	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 2178154	NM_002541.4(OGDH):c.1901-3C>T	OGDH	Single nucleotide variant (intron variant)	Oxoglutaricaciduria	GUncertain significance
Select item 2176682	NM_002541.4(OGDH):c.2051+10T>C	OGDH	Single nucleotide variant (intron variant)	Oxoglutaricaciduria	GLikely benign
Select item 2173044	NM_002541.4(OGDH):c.405G>A (p.Arg135=)	OGDH	Single nucleotide variant (synonymous variant)	Oxoglutaricaciduria	GLikely benign
Select item 2170642	NM_002541.4(OGDH):c.1772-13C>G	OGDH	Single nucleotide variant (intron variant)	Oxoglutaricaciduria	GLikely benign
Select item 2170455	NM_002541.4(OGDH):c.2834T>C (p.Val945Ala)	OGDH (V941A +2 more)	Single nucleotide variant (missense variant)	Oxoglutaricaciduria	GUncertain significance
Select item 2165828	NM_002541.4(OGDH):c.2952-20C>T	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 2164738	NM_002541.4(OGDH):c.2997G>A (p.Lys999=)	OGDH	Single nucleotide variant (synonymous variant)	Oxoglutaricaciduria	GLikely benign
Select item 2162332	NM_002541.4(OGDH):c.249G>A (p.Thr83=)	OGDH	Single nucleotide variant (synonymous variant)	Oxoglutaricaciduria	GLikely benign
Select item 2156374	NM_002541.4(OGDH):c.3036G>A (p.Thr1012=)	OGDH	Single nucleotide variant (synonymous variant)	Oxoglutaricaciduria	GLikely benign
Select item 2153235	NM_002541.4(OGDH):c.3068C>T (p.Ser1023Leu)	OGDH (S1034L +2 more)	Single nucleotide variant (missense variant)	Oxoglutaricaciduria	GUncertain significance
Select item 2151753	NM_002541.4(OGDH):c.39A>G (p.Pro13=)	OGDH	Single nucleotide variant (synonymous variant)	Oxoglutaricaciduria	GLikely benign
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 2150529	NM_002541.4(OGDH):c.293C>T (p.Pro98Leu)	OGDH (P98L)	Single nucleotide variant (missense variant)	Oxoglutaricaciduria	GUncertain significance
Select item 2148766	NM_002541.4(OGDH):c.2051+6G>A	OGDH	Single nucleotide variant (intron variant)	Oxoglutaricaciduria	GUncertain significance
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 2140332	NM_002541.4(OGDH):c.1026+6G>A	OGDH	Single nucleotide variant (intron variant)	Oxoglutaricaciduria	GUncertain significance
Select item 2123476	NM_002541.4(OGDH):c.415-14T>C	OGDH	Single nucleotide variant (intron variant)	Oxoglutaricaciduria	GLikely benign
Select item 2121440	NM_002541.4(OGDH):c.633+16G>C	OGDH	Single nucleotide variant (intron variant)	Oxoglutaricaciduria	GLikely benign
Select item 2085735	NM_002541.4(OGDH):c.1901-8C>G	OGDH	Single nucleotide variant (intron variant)	Oxoglutaricaciduria	GLikely benign
Select item 2066483	NM_002541.4(OGDH):c.2397G>A (p.Leu799=)	OGDH	Single nucleotide variant (synonymous variant)	Oxoglutaricaciduria	GLikely benign
Select item 2065158	NM_002541.4(OGDH):c.936-16C>T	OGDH	Single nucleotide variant (intron variant)	Oxoglutaricaciduria	GLikely benign
Select item 2063678	NM_002541.4(OGDH):c.89C>T (p.Ala30Val)	OGDH (A30V)	Single nucleotide variant (missense variant)	Oxoglutaricaciduria	GUncertain significance
Select item 2063368	NM_002541.4(OGDH):c.1979C>T (p.Ala660Val)	OGDH (A660V +2 more)	Single nucleotide variant (missense variant)	Oxoglutaricaciduria	GUncertain significance
Select item 2060723	NM_002541.4(OGDH):c.2632+17T>C	OGDH	Single nucleotide variant (intron variant)	Oxoglutaricaciduria	GBenign
Select item 2059400	NM_002541.4(OGDH):c.80G>T (p.Arg27Ile)	OGDH (R27I)	Single nucleotide variant (missense variant)	Oxoglutaricaciduria	GUncertain significance
Select item 2058244	NM_002541.4(OGDH):c.1152G>A (p.Val384=)	OGDH	Single nucleotide variant (synonymous variant)	Oxoglutaricaciduria	GBenign
Select item 2058242	NM_002541.4(OGDH):c.1137C>T (p.Ala379=)	OGDH	Single nucleotide variant (synonymous variant)	Oxoglutaricaciduria	GBenign
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 2054392	NM_002541.4(OGDH):c.1936G>T (p.Val646Leu)	OGDH (V642L +2 more)	Single nucleotide variant (missense variant)	Oxoglutaricaciduria	GUncertain significance
Select item 2046041	NM_002541.4(OGDH):c.2145G>A (p.Val715=)	OGDH	Single nucleotide variant (synonymous variant)	Oxoglutaricaciduria	GBenign
Select item 2044780	NM_002541.4(OGDH):c.2376C>T (p.Ser792=)	OGDH	Single nucleotide variant (synonymous variant)	Oxoglutaricaciduria	GLikely benign
Select item 1993762	NM_002541.4(OGDH):c.1817C>G (p.Ser606Cys)	OGDH (S606C +2 more)	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 1983248	NM_002541.4(OGDH):c.1027-9C>T	OGDH	Single nucleotide variant (intron variant)	Oxoglutaricaciduria	GLikely benign
Select item 1967044	NM_002541.4(OGDH):c.2358+6C>T	OGDH	Single nucleotide variant (intron variant)	Oxoglutaricaciduria	GUncertain significance
Select item 1956205	NM_002541.4(OGDH):c.2052-3C>T	OGDH	Single nucleotide variant (intron variant)	Oxoglutaricaciduria	GUncertain significance
Select item 1924049	NM_002541.4(OGDH):c.2283C>T (p.Phe761=)	OGDH	Single nucleotide variant (synonymous variant)	Oxoglutaricaciduria	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 1898873	NM_002541.4(OGDH):c.770G>A (p.Arg257Lys)	OGDH (R257K +2 more)	Single nucleotide variant (missense variant)	Oxoglutaricaciduria	GUncertain significance
Select item 1720710	NM_002541.4(OGDH):c.1837A>G (p.Ile613Val)	OGDH (I609V +2 more)	Single nucleotide variant (missense variant)	Oxoglutaricaciduria	GUncertain significance
Select item 1665186	NM_002541.4(OGDH):c.255C>T (p.Ala85=)	OGDH	Single nucleotide variant (synonymous variant)	Oxoglutaricaciduria	GLikely benign
Select item 1656375	NM_002541.4(OGDH):c.2226C>T (p.Leu742=)	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)	Oxoglutaricaciduria	GLikely benign
Select item 1643526	NM_002541.4(OGDH):c.1032C>T (p.Ser344=)	OGDH	Single nucleotide variant (synonymous variant)	Oxoglutaricaciduria	GBenign
Select item 1630485	NM_002541.4(OGDH):c.3012G>A (p.Thr1004=)	OGDH	Single nucleotide variant (synonymous variant)	Oxoglutaricaciduria	GLikely benign
Select item 1628521	NM_002541.4(OGDH):c.935+15G>A	OGDH	Single nucleotide variant (intron variant)	Oxoglutaricaciduria	GBenign
Select item 1598081	NM_002541.4(OGDH):c.1206+19C>A	OGDH (R409S)	Single nucleotide variant (missense variant +1 more)	Oxoglutaricaciduria +1 more	GBenign/Likely benign
Select item 1597659	NM_002541.4(OGDH):c.1440C>T (p.Pro480=)	OGDH	Single nucleotide variant (synonymous variant)	Oxoglutaricaciduria	GLikely benign
Select item 1595284	NM_002541.4(OGDH):c.1335+19C>T	OGDH	Single nucleotide variant (intron variant)	Oxoglutaricaciduria	GLikely benign
Select item 1576594	NM_002541.4(OGDH):c.2632+16A>T	OGDH	Single nucleotide variant (intron variant)	Oxoglutaricaciduria	GLikely benign
Select item 1554483	NM_002541.4(OGDH):c.2031C>T (p.Asp677=)	OGDH	Single nucleotide variant (synonymous variant)	Oxoglutaricaciduria	GLikely benign
Select item 1547603	NM_002541.4(OGDH):c.1668+13G>A	OGDH	Single nucleotide variant (intron variant)	Oxoglutaricaciduria	GLikely benign
Select item 1547388	NM_002541.4(OGDH):c.1146C>T (p.Pro382=)	OGDH	Single nucleotide variant (synonymous variant)	Oxoglutaricaciduria	GLikely benign
Select item 1495908	NM_002541.4(OGDH):c.1803C>T (p.Ser601=)	OGDH	Single nucleotide variant (synonymous variant)	Oxoglutaricaciduria	GLikely benign
Select item 1492984	NM_002541.4(OGDH):c.2433C>A (p.Asp811Glu)	OGDH (D807E +2 more)	Single nucleotide variant (missense variant)	Oxoglutaricaciduria +1 more	GUncertain significance
Select item 1484653	NM_002541.4(OGDH):c.2849A>G (p.Asn950Ser)	OGDH (N950S +2 more)	Single nucleotide variant (missense variant)	Oxoglutaricaciduria	GUncertain significance
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 1445925	NM_002541.4(OGDH):c.1456G>A (p.Val486Met)	OGDH (V497M +2 more)	Single nucleotide variant (missense variant)	Oxoglutaricaciduria	GConflicting classifications of pathogenicity
Select item 1414760	NM_002541.4(OGDH):c.2722G>A (p.Val908Met)	OGDH (V908M +2 more)	Single nucleotide variant (missense variant)	Oxoglutaricaciduria	GUncertain significance
Select item 1400711	NM_002541.4(OGDH):c.1900+8G>A	OGDH	Single nucleotide variant (intron variant)	Oxoglutaricaciduria	GLikely benign
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 1381193	NM_002541.4(OGDH):c.1474G>T (p.Glu492Ter)	OGDH (E488* +2 more)	Single nucleotide variant (nonsense)	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 1356125	NM_002541.4(OGDH):c.2951+4A>G	OGDH	Single nucleotide variant (intron variant)	Oxoglutaricaciduria	GUncertain significance
Select item 1355335	NM_002541.4(OGDH):c.7C>T (p.His3Tyr)	OGDH (H3Y)	Single nucleotide variant (missense variant)	not provided +1 more	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 1148524	NM_002541.4(OGDH):c.2811C>T (p.Pro937=)	OGDH	Single nucleotide variant (synonymous variant)	Oxoglutaricaciduria	GLikely benign

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