ClinVar for Gene (Select 1757) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3245294	NC_000009.11:g.(?_131678355)_(140095163_?)dup	GTF3C5, HMCN2 +147 more	Duplication	not provided	GUncertain significance
Select item 3157837	NM_001134707.2(SARDH):c.919A>G (p.Met307Val)	SARDH (M307V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157835	NM_001134707.2(SARDH):c.859C>G (p.Pro287Ala)	SARDH (P287A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157834	NM_001134707.2(SARDH):c.779G>A (p.Gly260Asp)	SARDH (G260D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157833	NM_001134707.2(SARDH):c.722G>A (p.Arg241His)	SARDH (R241H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157832	NM_001134707.2(SARDH):c.391C>G (p.Arg131Gly)	SARDH (R131G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157831	NM_001134707.2(SARDH):c.310G>A (p.Gly104Arg)	SARDH (G104R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157830	NM_001134707.2(SARDH):c.2636C>T (p.Ser879Leu)	SARDH (S879L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157829	NM_001134707.2(SARDH):c.2332C>T (p.Arg778Trp)	SARDH (R778W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157828	NM_001134707.2(SARDH):c.2260G>A (p.Ala754Thr)	SARDH (A754T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157827	NM_001134707.2(SARDH):c.2233G>C (p.Val745Leu)	SARDH (V745L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3157826	NM_001134707.2(SARDH):c.2182T>C (p.Ser728Pro)	SARDH (S728P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157825	NM_001134707.2(SARDH):c.2134C>A (p.His712Asn)	SARDH (H712N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157824	NM_001134707.2(SARDH):c.1987G>A (p.Val663Met)	SARDH (V663M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157823	NM_001134707.2(SARDH):c.1852G>A (p.Glu618Lys)	SARDH (E618K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157822	NM_001134707.2(SARDH):c.1822A>G (p.Thr608Ala)	SARDH (T608A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157821	NM_001134707.2(SARDH):c.1726T>C (p.Phe576Leu)	SARDH (F576L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157820	NM_001134707.2(SARDH):c.1702G>A (p.Ala568Thr)	SARDH (A568T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157819	NM_001134707.2(SARDH):c.1609G>A (p.Ala537Thr)	SARDH (A537T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157818	NM_001134707.2(SARDH):c.1546C>T (p.Pro516Ser)	SARDH (P516S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157817	NM_001134707.2(SARDH):c.1520G>C (p.Arg507Pro)	SARDH (R507P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157816	NM_001134707.2(SARDH):c.1376G>A (p.Arg459Gln)	SARDH (R459Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157815	NM_001134707.2(SARDH):c.1295G>A (p.Arg432His)	SARDH (R432H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157814	NM_001134707.2(SARDH):c.109G>A (p.Glu37Lys)	SARDH (E37K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3067726	NM_001134707.2(SARDH):c.741T>C (p.Phe247=)	SARDH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3063071	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3	ABCA1, ABCA2 +769 more	Copy number gain	not specified	GPathogenic
Select item 3060969	NM_001134707.2(SARDH):c.1942A>G (p.Met648Val)	SARDH (M648V)	Single nucleotide variant (missense variant)	SARDH-related disorder	GBenign
Select item 3060754	NM_001134707.2(SARDH):c.2190G>C (p.Val730=)	SARDH	Single nucleotide variant (synonymous variant)	SARDH-related disorder	GBenign
Select item 3059661	NM_001134707.2(SARDH):c.815-5C>T	SARDH	Single nucleotide variant (intron variant)	SARDH-related disorder	GLikely benign
Select item 3059588	NM_001134707.2(SARDH):c.1841G>A (p.Arg614His)	SARDH (R614H)	Single nucleotide variant (missense variant)	SARDH-related disorder	GBenign
Select item 3059243	NM_001134707.2(SARDH):c.2304C>T (p.Ile768=)	SARDH	Single nucleotide variant (synonymous variant)	SARDH-related disorder	GBenign
Select item 3056141	NM_001134707.2(SARDH):c.150G>A (p.Gln50=)	SARDH	Single nucleotide variant (synonymous variant)	SARDH-related disorder	GBenign
Select item 3055870	NM_001134707.2(SARDH):c.2598C>T (p.Ala866=)	SARDH	Single nucleotide variant (synonymous variant)	SARDH-related disorder	GLikely benign
Select item 3044431	NM_001134707.2(SARDH):c.1137G>A (p.Thr379=)	SARDH	Single nucleotide variant (synonymous variant)	SARDH-related disorder	GLikely benign
Select item 3044310	NM_001134707.2(SARDH):c.283C>T (p.Leu95=)	SARDH	Single nucleotide variant (synonymous variant)	SARDH-related disorder	GLikely benign
Select item 3043833	NM_001134707.2(SARDH):c.2535C>T (p.Asn845=)	SARDH	Single nucleotide variant (synonymous variant)	SARDH-related disorder	GLikely benign
Select item 3041740	NM_001134707.2(SARDH):c.666G>A (p.Arg222=)	SARDH	Single nucleotide variant (synonymous variant)	SARDH-related disorder	GLikely benign
Select item 3041012	NM_001134707.2(SARDH):c.423G>C (p.Thr141=)	SARDH	Single nucleotide variant (synonymous variant)	SARDH-related disorder	GLikely benign
Select item 3040168	NM_001134707.2(SARDH):c.2049C>T (p.Ile683=)	SARDH	Single nucleotide variant (synonymous variant)	SARDH-related disorder	GLikely benign
Select item 3039837	NM_001134707.2(SARDH):c.1419C>T (p.Pro473=)	SARDH	Single nucleotide variant (synonymous variant)	SARDH-related disorder	GBenign
Select item 3038698	NM_001134707.2(SARDH):c.270G>C (p.Met90Ile)	SARDH (M90I)	Single nucleotide variant (missense variant)	SARDH-related disorder	GLikely benign
Select item 3037278	NM_001134707.2(SARDH):c.381C>T (p.Ala127=)	SARDH	Single nucleotide variant (synonymous variant)	SARDH-related disorder	GLikely benign
Select item 3033298	NM_001134707.2(SARDH):c.814+7G>A	SARDH	Single nucleotide variant (intron variant)	SARDH-related disorder	GLikely benign
Select item 3024877	NM_001134707.2(SARDH):c.463A>G (p.Ile155Val)	SARDH (I155V)	Single nucleotide variant (missense variant)	SARDH-related disorder +1 more	GLikely benign
Select item 2684589	GRCh37/hg19 9q34.2(chr9:136378366-136726628)x3	ADAMTSL2, DBH +4 more	Copy number gain	not provided	GUncertain significance
Select item 2664774	NM_001134707.2(SARDH):c.1442G>A (p.Arg481His)	SARDH (R481H)	Single nucleotide variant (missense variant)	Sarcosine dehydrogenase deficiency	GUncertain significance
Select item 2659699	NM_001134707.2(SARDH):c.566C>T (p.Thr189Ile)	SARDH (T189I)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 2659698	NM_001134707.2(SARDH):c.915+4221G>A	SARDH	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2659697	NM_001134707.2(SARDH):c.1329-6C>T	SARDH	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 2659696	NM_001134707.2(SARDH):c.2601C>T (p.Tyr867=)	SARDH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2617095	NM_001134707.2(SARDH):c.625G>A (p.Gly209Ser)	SARDH (G209S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596325	NM_001134707.2(SARDH):c.131G>A (p.Arg44Gln)	SARDH (R44Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595790	NM_001134707.2(SARDH):c.2467C>T (p.Arg823Trp)	SARDH (R823W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594228	NM_001134707.2(SARDH):c.1144G>A (p.Gly382Ser)	SARDH (G382S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591889	NM_001134707.2(SARDH):c.897G>C (p.Glu299Asp)	SARDH (E299D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543126	NM_001134707.2(SARDH):c.455G>C (p.Gly152Ala)	SARDH (G152A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531773	NM_001134707.2(SARDH):c.1133C>T (p.Ser378Phe)	SARDH (S378F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530307	NM_001134707.2(SARDH):c.433A>G (p.Thr145Ala)	SARDH (T145A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511703	NM_001134707.2(SARDH):c.2065G>A (p.Ala689Thr)	SARDH (A689T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508744	NM_001134707.2(SARDH):c.898C>T (p.Arg300Cys)	SARDH (R300C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472420	NM_001134707.2(SARDH):c.73C>T (p.Pro25Ser)	SARDH (P25S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469099	NM_001134707.2(SARDH):c.281T>C (p.Val94Ala)	SARDH (V94A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468359	NM_001134707.2(SARDH):c.1705G>A (p.Ala569Thr)	SARDH (A569T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468246	NM_001134707.2(SARDH):c.2225C>T (p.Ala742Val)	SARDH (A742V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462102	NM_001134707.2(SARDH):c.434C>T (p.Thr145Met)	SARDH (T145M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461695	NM_001134707.2(SARDH):c.2596G>A (p.Ala866Thr)	SARDH (A866T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454454	NM_001134707.2(SARDH):c.889G>A (p.Val297Ile)	SARDH (V297I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2433137	NM_001134707.2(SARDH):c.1306del (p.Asp436fs)	SARDH (D436fs)	Deletion (frameshift variant)	Sarcosine dehydrogenase deficiency	GLikely pathogenic
Select item 2426886	NC_000009.11:g.(?_136218768)_(141016451_?)dup	ENTPD8, INPP5E +110 more	Duplication	Kleefstra syndrome 1	GUncertain significance
Select item 2426262	NC_000009.11:g.(?_131087402)_(141016451_?)dup	ABCA2, ABL1 +187 more	Duplication	Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome	GUncertain significance
Select item 2422970	NC_000009.11:g.(?_135139626)_(140034216_?)dup	ABCA2, ABO +100 more	Duplication	Autosomal dominant nocturnal frontal lobe epilepsy 5 +4 more	GUncertain significance
Select item 2407160	NM_001134707.2(SARDH):c.946T>G (p.Ser316Ala)	SARDH (S316A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406872	NM_001134707.2(SARDH):c.2297G>A (p.Arg766His)	SARDH (R766H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401612	NM_001134707.2(SARDH):c.17G>A (p.Arg6Gln)	SARDH (R6Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401459	NM_001134707.2(SARDH):c.299G>A (p.Arg100Gln)	SARDH (R100Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398384	NM_001134707.2(SARDH):c.2627G>A (p.Gly876Glu)	SARDH (G876E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383675	NM_001134707.2(SARDH):c.2583C>G (p.Ile861Met)	SARDH (I861M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383414	NM_001134707.2(SARDH):c.2468G>A (p.Arg823Gln)	SARDH (R823Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363600	NM_001134707.2(SARDH):c.2584G>A (p.Asp862Asn)	SARDH (D862N)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2356460	NM_001134707.2(SARDH):c.1505G>A (p.Arg502Gln)	SARDH (R502Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351640	NM_001134707.2(SARDH):c.1331G>A (p.Arg444His)	SARDH (R444H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350225	NM_001134707.2(SARDH):c.1298C>T (p.Pro433Leu)	SARDH (P433L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348133	NM_001134707.2(SARDH):c.2444A>G (p.Gln815Arg)	SARDH (Q815R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347355	NM_001134707.2(SARDH):c.26G>A (p.Arg9His)	SARDH (R9H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332277	NM_001134707.2(SARDH):c.2612A>G (p.His871Arg)	SARDH (H871R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2322183	NM_001134707.2(SARDH):c.1600G>A (p.Glu534Lys)	SARDH (E534K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321781	NM_001134707.2(SARDH):c.1609G>C (p.Ala537Pro)	SARDH (A537P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320498	NM_001134707.2(SARDH):c.899G>A (p.Arg300His)	SARDH (R300H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300845	NM_001134707.2(SARDH):c.91G>C (p.Ala31Pro)	SARDH (A31P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272912	NM_001134707.2(SARDH):c.1717A>G (p.Met573Val)	SARDH (M573V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270340	NM_001134707.2(SARDH):c.20C>A (p.Ala7Asp)	SARDH (A7D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268140	NM_001134707.2(SARDH):c.2732A>G (p.Asn911Ser)	SARDH (N911S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258183	NM_001134707.2(SARDH):c.298C>T (p.Arg100Trp)	SARDH (R100W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251079	NM_001134707.2(SARDH):c.2714C>T (p.Ser905Leu)	SARDH (S905L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2227018	NM_001134707.2(SARDH):c.2464C>T (p.Arg822Cys)	SARDH (R822C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223514	NM_001134707.2(SARDH):c.2449C>T (p.Arg817Trp)	SARDH (R817W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208563	NM_001134707.2(SARDH):c.1912G>A (p.Ala638Thr)	SARDH (A638T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204752	NM_001134707.2(SARDH):c.2149G>A (p.Ala717Thr)	SARDH (A717T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1527491	GRCh37/hg19 9p24.3-q34.3(chr9:353349-141020389)	OR1L4, PTRH1 +768 more	Copy number gain	not specified	GPathogenic
Select item 1269024	NM_001134707.2(SARDH):c.1467C>T (p.His489=)	SARDH	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign

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