1757[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC124210612, LOC124210613 +3786 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	LOC121331326, LOC121331327 +3785 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC126860737, LOC126860738 +3786 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	LOC110121197, LOC110121234 +3786 more	Copy number gain	See cases	GPathogenic
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC121331342, LOC121331343 +3786 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	LOC113839542, LOC113839543 +3786 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	LOC130002189, LOC130002190 +3786 more	Copy number gain	See cases	GPathogenic
Select item 145579	GRCh38/hg38 9q33.2-34.3(chr9:121073102-138179445)x3	ABCA2, ABL1 +1272 more	Copy number gain	See cases	GPathogenic
Select item 57324	GRCh38/hg38 9q33.2-34.3(chr9:121112395-138075224)x3	ABCA2, ABL1 +1268 more	Copy number gain	See cases	GPathogenic
Select item 57353	GRCh38/hg38 9q33.2-34.3(chr9:122792658-138124532)x3	LOC130003132, LOC130003133 +1210 more	Copy number gain	See cases	GPathogenic
Select item 145575	GRCh38/hg38 9q34.11-34.3(chr9:129068560-138179445)x3	MED27, MIGA2 +789 more	Copy number gain	See cases	GPathogenic
Select item 59908	GRCh38/hg38 9q34.11-34.3(chr9:129068560-136495351)x3	ABL1, ABO +536 more	Copy number gain	See cases	GPathogenic
Select item 144296	GRCh38/hg38 9q34.11-34.3(chr9:130513207-138124532)x3	LOC130003057, LOC130003058 +656 more	Copy number gain	See cases	GPathogenic
Select item 3238673	GRCh38/hg38 9q34.13-34.3(chr9:137552409-137879159)	LOC124375238, LOC124375239 +569 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238671	GRCh38/hg38 9q34.13-34.3(chr9:137552082-137728529)	GBGT1, GLT6D1 +552 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238668	GRCh38/hg38 9q34.13-34.3(chr9:137552409-138052113)	ABCA2, ABO +572 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238667	GRCh38/hg38 9q34.13-34.3(chr9:137552409-138059181)	LOC130002921, LOC130002922 +572 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238666	GRCh38/hg38 9q34.13-34.3(chr9:136926151-138059181)	LOC121366034, LOC121366035 +572 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238664	GRCh38/hg38 9q34.13-34.3(chr9:137590213-137817525)	SARDH, SEC16A +568 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238663	GRCh38/hg38 9q34.13-34.3(chr9:137590213-138052188)	ABCA2, ABO +572 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 154569	GRCh38/hg38 9q34.13-34.3(chr9:132386553-138059695)x3	LOC130003026, LOC130003027 +530 more	Copy number gain	See cases	GPathogenic
Select item 147626	GRCh38/hg38 9q34.13-34.3(chr9:132986903-138114463)x3	ABCA2, ABO +510 more	Copy number gain	See cases	GPathogenic
Select item 148759	GRCh38/hg38 9q34.2-34.3(chr9:133504071-138159073)x3	LOC129390118, LOC130002920 +439 more	Copy number gain	See cases	GPathogenic
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 2251079	NM_001134707.2(SARDH):c.2714C>T (p.Ser905Leu)	SARDH (S905L)	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 2398384	NM_001134707.2(SARDH):c.2627G>A (p.Gly876Glu)	SARDH (G876E)	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 2659696	NM_001134707.2(SARDH):c.2601C>T (p.Tyr867=)	SARDH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2461695	NM_001134707.2(SARDH):c.2596G>A (p.Ala866Thr)	SARDH (A866T)	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 2383675	NM_001134707.2(SARDH):c.2583C>G (p.Ile861Met)	SARDH (I861M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3043833	NM_001134707.2(SARDH):c.2535C>T (p.Asn845=)	SARDH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2595790	NM_001134707.2(SARDH):c.2467C>T (p.Arg823Trp)	SARDH (R823W)	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 776458	NM_001134707.2(SARDH):c.2455G>A (p.Ala819Thr)	SARDH (A819T)	Single nucleotide variant (missense variant)	not provided	GBenign
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 2348133	NM_001134707.2(SARDH):c.2444A>G (p.Gln815Arg)	SARDH (Q815R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3316161	NM_001134707.2(SARDH):c.2411C>A (p.Pro804Gln)	SARDH (P804Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 791575	NM_001134707.2(SARDH):c.2346G>A (p.Ala782=)	SARDH	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 718828	NM_001134707.2(SARDH):c.2345C>T (p.Ala782Val)	SARDH (A782V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
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 3059243	NM_001134707.2(SARDH):c.2304C>T (p.Ile768=)	SARDH	Single nucleotide variant (synonymous variant)	SARDH-related disorder	GBenign
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 3316157	NM_001134707.2(SARDH):c.2261C>T (p.Ala754Val)	SARDH (A754V)	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 729020	NM_001134707.2(SARDH):c.2226G>A (p.Ala742=)	SARDH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 3060754	NM_001134707.2(SARDH):c.2190G>C (p.Val730=)	SARDH	Single nucleotide variant (synonymous variant)	SARDH-related disorder	GBenign
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 39450	NM_001134707.2(SARDH):c.2167C>T (p.Arg723Ter)	SARDH (R723*)	Single nucleotide variant (nonsense)	Sarcosine dehydrogenase deficiency	GAffects
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 3157825	NM_001134707.2(SARDH):c.2134C>A (p.His712Asn)	SARDH (H712N)	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 3040168	NM_001134707.2(SARDH):c.2049C>T (p.Ile683=)	SARDH	Single nucleotide variant (synonymous variant)	SARDH-related disorder	GLikely benign
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 3060969	NM_001134707.2(SARDH):c.1942A>G (p.Met648Val)	SARDH (M648V)	Single nucleotide variant (missense variant)	SARDH-related disorder	GBenign
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 3157823	NM_001134707.2(SARDH):c.1852G>A (p.Glu618Lys)	SARDH (E618K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3157822	NM_001134707.2(SARDH):c.1822A>G (p.Thr608Ala)	SARDH (T608A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1239038	NM_001134707.2(SARDH):c.1785C>T (p.Ser595=)	SARDH	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 785297	NM_001134707.2(SARDH):c.1785C>G (p.Ser595=)	SARDH	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 2272912	NM_001134707.2(SARDH):c.1717A>G (p.Met573Val)	SARDH (M573V)	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 785298	NM_001134707.2(SARDH):c.1704C>T (p.Ala568=)	SARDH	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 2321781	NM_001134707.2(SARDH):c.1609G>C (p.Ala537Pro)	SARDH (A537P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3316156	NM_001134707.2(SARDH):c.1561G>C (p.Glu521Gln)	SARDH (E521Q)	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 39451	NM_001134707.2(SARDH):c.1540C>T (p.Arg514Ter)	SARDH (R514*)	Single nucleotide variant (nonsense)	Sarcosine dehydrogenase deficiency	GAffects
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 2356460	NM_001134707.2(SARDH):c.1505G>A (p.Arg502Gln)	SARDH (R502Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 715509	NM_001134707.2(SARDH):c.1471-8C>T	SARDH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 787888	NM_001134707.2(SARDH):c.1468G>A (p.Glu490Lys)	SARDH (E490K)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1269024	NM_001134707.2(SARDH):c.1467C>T (p.His489=)	SARDH	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 743362	NM_001134707.2(SARDH):c.1458C>T (p.Asp486=)	SARDH	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 3039837	NM_001134707.2(SARDH):c.1419C>T (p.Pro473=)	SARDH	Single nucleotide variant (synonymous variant)	SARDH-related disorder	GBenign
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 2351640	NM_001134707.2(SARDH):c.1331G>A (p.Arg444His)	SARDH (R444H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2659697	NM_001134707.2(SARDH):c.1329-6C>T	SARDH	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2433137	NM_001134707.2(SARDH):c.1306del (p.Asp436fs)	SARDH (D436fs)	Deletion (frameshift variant)	Sarcosine dehydrogenase deficiency	GLikely pathogenic
Select item 711531	NM_001134707.2(SARDH):c.1299G>A (p.Pro433=)	SARDH	Single nucleotide variant (synonymous variant)	Sarcosine dehydrogenase deficiency +1 more	GBenign/Likely benign
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 3157815	NM_001134707.2(SARDH):c.1295G>A (p.Arg432His)	SARDH (R432H)	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 3044431	NM_001134707.2(SARDH):c.1137G>A (p.Thr379=)	SARDH	Single nucleotide variant (synonymous variant)	SARDH-related disorder	GLikely benign
Select item 3316160	NM_001134707.2(SARDH):c.1136C>T (p.Thr379Met)	SARDH (T379M)	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 787889	NM_001134707.2(SARDH):c.998C>T (p.Ala333Val)	SARDH (A333V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3316159	NM_001134707.2(SARDH):c.959G>A (p.Arg320His)	SARDH (R320H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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