ClinVar for Gene (Select 80760) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3148909	GRCh37/hg19 10p15.3-14(chr10:1274308-12045503)x3	ADARB2, AKR1C1 +35 more	Copy number gain	See cases	GUncertain significance
Select item 3111632	NM_030569.7(ITIH5):c.688C>G (p.Gln230Glu)	ITIH5 (Q16E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111631	NM_030569.7(ITIH5):c.481G>A (p.Glu161Lys)	ITIH5 (E161K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111630	NM_030569.7(ITIH5):c.406A>G (p.Lys136Glu)	ITIH5 (K136E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111629	NM_030569.7(ITIH5):c.284T>C (p.Ile95Thr)	ITIH5 (I95T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111628	NM_030569.7(ITIH5):c.2734G>A (p.Ala912Thr)	ITIH5 (A698T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111627	NM_030569.7(ITIH5):c.2185G>A (p.Ala729Thr)	ITIH5 (A729T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111626	NM_030569.7(ITIH5):c.215G>C (p.Arg72Thr)	ITIH5 (R72T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111625	NM_030569.7(ITIH5):c.1964C>G (p.Ala655Gly)	ITIH5 (A655G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111624	NM_030569.7(ITIH5):c.1960G>A (p.Gly654Arg)	ITIH5 (G440R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111623	NM_030569.7(ITIH5):c.1954G>C (p.Val652Leu)	ITIH5 (V438L +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3111622	NM_030569.7(ITIH5):c.1825G>T (p.Ala609Ser)	ITIH5 (A609S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111620	NM_030569.7(ITIH5):c.1816C>G (p.Gln606Glu)	ITIH5 (Q392E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111619	NM_030569.7(ITIH5):c.1805G>A (p.Arg602Gln)	ITIH5 (R388Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111618	NM_030569.7(ITIH5):c.1582G>A (p.Val528Met)	ITIH5 (V314M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111616	NM_030569.7(ITIH5):c.1352C>T (p.Ser451Leu)	ITIH5 (S237L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111615	NM_030569.7(ITIH5):c.1306A>G (p.Ile436Val)	ITIH5 (I222V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111614	NM_030569.7(ITIH5):c.1274A>G (p.Glu425Gly)	ITIH5 (E211G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111613	NM_030569.7(ITIH5):c.1178T>C (p.Ile393Thr)	ITIH5 (I393T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2640293	NM_030569.7(ITIH5):c.1380C>T (p.Arg460=)	ITIH5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2622968	NM_030569.7(ITIH5):c.2509A>G (p.Asn837Asp)	ITIH5 (N837D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2619183	NM_030569.7(ITIH5):c.1320C>G (p.Asn440Lys)	ITIH5 (N440K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2612552	NM_030569.7(ITIH5):c.557G>A (p.Ser186Asn)	ITIH5 (S186N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607537	NM_030569.7(ITIH5):c.1000A>G (p.Ile334Val)	ITIH5 (I334V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602665	NM_030569.7(ITIH5):c.460G>T (p.Ala154Ser)	ITIH5 (A154S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592205	NM_030569.7(ITIH5):c.989G>A (p.Arg330His)	ITIH5 (R116H +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2588721	NM_030569.7(ITIH5):c.1909C>T (p.His637Tyr)	ITIH5 (H423Y +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2588155	NM_030569.7(ITIH5):c.1618A>G (p.Ile540Val)	ITIH5 (I326V +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2570255	NM_030569.7(ITIH5):c.1907C>T (p.Ala636Val)	ITIH5 (A636V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559440	NM_030569.7(ITIH5):c.1154A>G (p.Asn385Ser)	ITIH5 (N171S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544077	NM_030569.7(ITIH5):c.544T>C (p.Ser182Pro)	ITIH5 (S182P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531722	NM_030569.7(ITIH5):c.1459C>A (p.Arg487Ser)	ITIH5 (R273S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528481	NM_030569.7(ITIH5):c.2692G>C (p.Gly898Arg)	ITIH5 (G684R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495824	NM_030569.7(ITIH5):c.2083G>A (p.Val695Met)	ITIH5 (V695M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490785	NM_030569.7(ITIH5):c.385A>G (p.Thr129Ala)	ITIH5 (T129A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488807	NM_030569.7(ITIH5):c.725C>G (p.Thr242Ser)	ITIH5 (T242S +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2477868	NM_030569.7(ITIH5):c.2129T>G (p.Val710Gly)	ITIH5 (V710G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465815	NM_030569.7(ITIH5):c.2750G>C (p.Gly917Ala)	ITIH5 (G703A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465202	NM_030569.7(ITIH5):c.671C>T (p.Pro224Leu)	ITIH5 (P10L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464947	NM_030569.7(ITIH5):c.1460G>A (p.Arg487His)	ITIH5 (R487H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457720	NM_030569.7(ITIH5):c.2665G>C (p.Val889Leu)	ITIH5 (V889L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457482	NM_030569.7(ITIH5):c.1430A>T (p.Glu477Val)	ITIH5 (E263V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401720	NM_030569.7(ITIH5):c.1234G>A (p.Gly412Arg)	ITIH5 (G198R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387465	NM_030569.7(ITIH5):c.781A>G (p.Arg261Gly)	ITIH5 (R261G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386259	NM_030569.7(ITIH5):c.2518G>A (p.Gly840Arg)	ITIH5 (G626R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377279	NM_030569.7(ITIH5):c.187C>T (p.Arg63Cys)	ITIH5 (R63C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376438	NM_030569.7(ITIH5):c.526G>C (p.Val176Leu)	ITIH5 (V176L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371000	NM_030569.7(ITIH5):c.151A>T (p.Met51Leu)	ITIH5 (M51L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370303	NM_030569.7(ITIH5):c.1121A>G (p.Asn374Ser)	ITIH5 (N374S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363869	NM_030569.7(ITIH5):c.1181G>A (p.Gly394Glu)	ITIH5 (G180E +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2356436	NM_030569.7(ITIH5):c.2212C>T (p.Arg738Cys)	ITIH5 (R738C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351366	NM_030569.7(ITIH5):c.341G>A (p.Arg114Lys)	ITIH5 (R114K)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2346324	NM_030569.7(ITIH5):c.1376G>A (p.Arg459Gln)	ITIH5 (R459Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345839	NM_030569.7(ITIH5):c.611C>T (p.Pro204Leu)	ITIH5 (P204L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342733	NM_030569.7(ITIH5):c.1016G>A (p.Arg339Gln)	ITIH5 (R339Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339364	NM_030569.7(ITIH5):c.1052C>T (p.Thr351Ile)	ITIH5 (T351I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339257	NM_030569.7(ITIH5):c.1123G>C (p.Gly375Arg)	ITIH5 (G375R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335991	NM_030569.7(ITIH5):c.1594G>T (p.Ala532Ser)	ITIH5 (A318S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332349	NM_030569.7(ITIH5):c.635G>A (p.Gly212Asp)	ITIH5 (G212D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326566	NM_030569.7(ITIH5):c.821A>G (p.Gln274Arg)	ITIH5 (Q60R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320868	NM_030569.7(ITIH5):c.1245C>A (p.His415Gln)	ITIH5 (H415Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315046	NM_030569.7(ITIH5):c.2102G>C (p.Gly701Ala)	ITIH5 (G701A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308281	NM_030569.7(ITIH5):c.1060A>G (p.Ser354Gly)	ITIH5 (S140G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298486	NM_030569.7(ITIH5):c.235G>C (p.Glu79Gln)	ITIH5 (E79Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298048	NM_030569.7(ITIH5):c.794A>G (p.Asn265Ser)	ITIH5 (N51S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293702	NM_030569.7(ITIH5):c.2379C>A (p.Asn793Lys)	ITIH5 (N579K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290336	NM_030569.7(ITIH5):c.624C>G (p.Ser208Arg)	ITIH5 (S208R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273322	NM_030569.7(ITIH5):c.2576C>G (p.Pro859Arg)	ITIH5 (P645R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268248	NM_030569.7(ITIH5):c.1724G>A (p.Arg575His)	ITIH5 (R575H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258041	NM_030569.7(ITIH5):c.1787C>A (p.Pro596Gln)	ITIH5 (P596Q +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2257527	NM_030569.7(ITIH5):c.447C>G (p.Ser149Arg)	ITIH5 (S149R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253104	NM_030569.7(ITIH5):c.1271G>A (p.Arg424Gln)	ITIH5 (R424Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250877	NM_030569.7(ITIH5):c.2163C>G (p.Asn721Lys)	ITIH5 (N721K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248910	NM_030569.7(ITIH5):c.1525G>A (p.Gly509Ser)	ITIH5 (G295S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246128	NM_030569.7(ITIH5):c.2138A>G (p.His713Arg)	ITIH5 (H499R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236730	NM_030569.7(ITIH5):c.1651A>C (p.Lys551Gln)	ITIH5 (K337Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221430	NM_030569.7(ITIH5):c.918G>A (p.Met306Ile)	ITIH5 (M306I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217896	NM_030569.7(ITIH5):c.1594G>A (p.Ala532Thr)	ITIH5 (A532T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209459	NM_030569.7(ITIH5):c.2297A>T (p.Asp766Val)	ITIH5 (D552V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206927	NM_030569.7(ITIH5):c.1475C>G (p.Pro492Arg)	ITIH5 (P492R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1809417	GRCh37/hg19 10p14(chr10:7588527-7648751)x1	ITIH5	Copy number loss	not provided	GUncertain significance
Select item 1809339	GRCh37/hg19 10p14(chr10:7636590-11590970)x3	ATP5F1C, CELF2 +6 more	Copy number gain	not provided	GUncertain significance
Select item 1807587	GRCh37/hg19 10p15.3-13(chr10:100027-12648149)x3	CDC123, CELF2 +47 more	Copy number gain	not provided	GUncertain significance
Select item 1527577	GRCh37/hg19 10p15.1-11.21(chr10:6273934-34732521)	ABI1, ACBD5 +111 more	Copy number gain	not specified	GPathogenic
Select item 1527575	GRCh37/hg19 10p15.3-14(chr10:2116123-8856296)	AKR1C1, AKR1C2 +29 more	Copy number gain	not specified	GUncertain significance
Select item 1339781	GRCh37/hg19 10p15.3-q11.22(chr10:135655-47688677)x4	ACBD7, ABI1 +180 more	Copy number gain	Mosaic supernumerary isodicentric chromosome 10	Gnot provided
Select item 779105	NM_030569.7(ITIH5):c.945G>A (p.Lys315=)	ITIH5	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 776494	NM_030569.7(ITIH5):c.198C>T (p.Phe66=)	ITIH5	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 708947	NM_030569.7(ITIH5):c.1838G>A (p.Arg613His)	ITIH5 (R399H +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 687391	GRCh37/hg19 10p15.3-13(chr10:100026-15273144)x3	ACBD7, ADARB2 +68 more	Copy number gain	not provided	GPathogenic
Select item 687363	GRCh37/hg19 10p15.3-13(chr10:100026-15273144)x3	WDR37, ZMYND11 +68 more	Copy number gain	not provided	GPathogenic
Select item 686098	GRCh37/hg19 10p14(chr10:7663004-7922532)x1	ATP5F1C, ITIH2 +3 more	Copy number loss	not provided	GUncertain significance
Select item 599307	Single allele	ITIH2, ITIH5 +72 more	Deletion	Hypoparathyroidism, deafness, renal disease syndrome	GPathogenic
Select item 563731	GRCh37/hg19 10p14(chr10:7443156-7768620)x3	ITIH2, ITIH5 +1 more	Copy number gain	not provided	GUncertain significance
Select item 563711	GRCh37/hg19 10p14(chr10:7514582-7701527)x1	ITIH5	Copy number loss	not provided	GLikely benign
Select item 443260	GRCh37/hg19 10p15.3-q11.23(chr10:100026-50961640)x3	ABI1, ACBD5 +205 more	Copy number gain	See cases	GPathogenic
Select item 442589	GRCh37/hg19 10p15.3-13(chr10:100026-12842179)x1	AKR1E2, ADARB2 +47 more	Copy number loss	See cases	GPathogenic
Select item 441987	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)	A1CF, ABCC2 +722 more	Copy number gain	See cases	GPathogenic
Select item 441986	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3	NFKB2, NHLRC2 +722 more	Copy number gain	See cases	GPathogenic
Select item 395536	GRCh37/hg19 10p15.3-14(chr10:136361-8850609)x1	ADARB2, AKR1C1 +37 more	Copy number loss	See cases	GPathogenic

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