ClinVar for Gene (Select 168002) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3148927	GRCh37/hg19 6q25.2-27(chr6:152853218-170914297)x1	ACAT2, AFDN +79 more	Copy number loss	See cases	GPathogenic
Select item 3079975	NM_214462.5(DACT2):c.994G>A (p.Ala332Thr)	DACT2 (A332T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3079974	NM_214462.5(DACT2):c.875C>T (p.Thr292Ile)	DACT2 (T122I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3079973	NM_214462.5(DACT2):c.778T>A (p.Tyr260Asn)	DACT2 (Y260N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3079971	NM_214462.5(DACT2):c.489G>C (p.Gln163His)	DACT2 (Q163H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3079970	NM_214462.5(DACT2):c.406T>C (p.Ser136Pro)	DACT2 (S136P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3079967	NM_214462.5(DACT2):c.278A>G (p.Lys93Arg)	DACT2 (K93R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3079966	NM_214462.5(DACT2):c.2122G>A (p.Ala708Thr)	DACT2 (A538T +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3079965	NM_214462.5(DACT2):c.2083G>A (p.Gly695Arg)	DACT2 (G525R +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3079963	NM_214462.5(DACT2):c.1903G>A (p.Val635Met)	DACT2 (V465M +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 3079962	NM_214462.5(DACT2):c.1897A>G (p.Arg633Gly)	DACT2 (R463G +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3079960	NM_214462.5(DACT2):c.1766C>G (p.Ala589Gly)	DACT2 (A419G +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3079959	NM_214462.5(DACT2):c.1541C>T (p.Pro514Leu)	DACT2 (P344L +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3079958	NM_214462.5(DACT2):c.1471C>T (p.Pro491Ser)	DACT2 (P321S +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3079957	NM_214462.5(DACT2):c.1346C>T (p.Thr449Ile)	DACT2 (T279I +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3079956	NM_214462.5(DACT2):c.131G>C (p.Arg44Pro)	DACT2 (R44P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3079955	NM_214462.5(DACT2):c.1271G>A (p.Gly424Asp)	DACT2 (G254D +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3079954	NM_214462.5(DACT2):c.1123G>A (p.Gly375Ser)	DACT2 (G205S +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 3062910	GRCh37/hg19 6q26-27(chr6:162079329-170919482)x1	AFDN, C6orf118 +33 more	Copy number loss	not specified	GPathogenic
Select item 3024639	GRCh37/hg19 6q26-27(chr6:162124972-170893669)x1	CCR6, CEP43 +33 more	Copy number loss	not provided	GPathogenic
Select item 2685219	GRCh37/hg19 6q27(chr6:167091844-170919482)x1	AFDN, C6orf120 +22 more	Copy number loss	not provided	GPathogenic
Select item 2684467	GRCh37/hg19 6q27(chr6:168525571-168965276)x3	DACT2, SMOC2	Copy number gain	not provided	GUncertain significance
Select item 2684466	GRCh37/hg19 6q27(chr6:168212080-169034283)x3	AFDN, DACT2 +3 more	Copy number gain	not provided	GUncertain significance
Select item 2684465	GRCh37/hg19 6q27(chr6:168194615-169097953)x3	AFDN, DACT2 +3 more	Copy number gain	not provided	GUncertain significance
Select item 2657142	NM_214462.5(DACT2):c.1419G>A (p.Pro473=)	DACT2	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2657141	NM_214462.5(DACT2):c.1785G>A (p.Ala595=)	DACT2	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2616988	NM_214462.5(DACT2):c.1101G>T (p.Arg367Ser)	DACT2 (R367S +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2597194	NM_214462.5(DACT2):c.78C>A (p.Phe26Leu)	DACT2 (F26L)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2593206	NM_214462.5(DACT2):c.1219G>A (p.Gly407Arg)	DACT2 (G237R +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2583044	GRCh37/hg19 6q25.3-27(chr6:160952761-170892276)x1	LOC729681, LPA +37 more	Copy number loss	not provided	GPathogenic
Select item 2579276	GRCh38/hg38 6q26-27(chr6:161349282-170584790)x1	AFDN, AFDN-DT +254 more	Copy number loss	Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures	GPathogenic
Select item 2571271	GRCh37/hg19 6q25.3-27(chr6:159006336-170713678)x3	ACAT2, AFDN +54 more	Copy number gain	not provided	GUncertain significance
Select item 2554045	NM_214462.5(DACT2):c.848C>T (p.Ala283Val)	DACT2 (A113V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2552883	NM_214462.5(DACT2):c.2110G>A (p.Glu704Lys)	DACT2 (E534K +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2545078	NM_214462.5(DACT2):c.311G>C (p.Ser104Thr)	DACT2 (S104T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2533165	NM_214462.5(DACT2):c.1344G>C (p.Gln448His)	DACT2 (Q278H +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2522585	NM_214462.5(DACT2):c.1147G>A (p.Ala383Thr)	DACT2 (A213T +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2511741	NM_214462.5(DACT2):c.1642C>T (p.Arg548Trp)	DACT2 (R378W +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2509318	NM_214462.5(DACT2):c.781C>T (p.Arg261Trp)	DACT2 (R91W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2508680	NM_214462.5(DACT2):c.1970C>A (p.Thr657Asn)	DACT2 (T657N +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2494019	NM_214462.5(DACT2):c.1969A>G (p.Thr657Ala)	DACT2 (T657A +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2486778	NM_214462.5(DACT2):c.860C>T (p.Pro287Leu)	DACT2 (P117L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2474531	NM_214462.5(DACT2):c.11C>G (p.Pro4Arg)	DACT2 (P4R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2469498	NM_214462.5(DACT2):c.229G>T (p.Ala77Ser)	DACT2 (A77S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2464928	NM_214462.5(DACT2):c.1165G>A (p.Glu389Lys)	DACT2 (E219K +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2463699	NM_214462.5(DACT2):c.1082C>T (p.Ala361Val)	DACT2 (A191V +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2460913	NM_214462.5(DACT2):c.1441C>T (p.Pro481Ser)	DACT2 (P311S +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2456967	NM_214462.5(DACT2):c.714C>G (p.Asp238Glu)	DACT2 (D68E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2399394	NM_214462.5(DACT2):c.1970C>T (p.Thr657Ile)	DACT2 (T657I +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2383242	NM_214462.5(DACT2):c.632C>T (p.Thr211Ile)	DACT2 (T211I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381932	NM_214462.5(DACT2):c.2174C>A (p.Ala725Glu)	DACT2 (A725E +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2375014	NM_214462.5(DACT2):c.401G>A (p.Gly134Asp)	DACT2 (G134D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2368530	NM_214462.5(DACT2):c.397G>A (p.Asp133Asn)	DACT2 (D133N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2368236	NM_214462.5(DACT2):c.1195G>A (p.Gly399Ser)	DACT2 (G229S +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2367616	NM_214462.5(DACT2):c.1784C>T (p.Ala595Val)	DACT2 (A595V +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2364311	NM_214462.5(DACT2):c.1313T>C (p.Val438Ala)	DACT2 (V438A +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2349339	NM_214462.5(DACT2):c.1133G>A (p.Arg378Gln)	DACT2 (R208Q +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2347284	NM_214462.5(DACT2):c.1736C>T (p.Pro579Leu)	DACT2 (P409L +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2345828	NM_214462.5(DACT2):c.34G>A (p.Gly12Ser)	DACT2 (G12S)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2345397	NM_214462.5(DACT2):c.962C>T (p.Pro321Leu)	DACT2 (P321L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2304145	NM_214462.5(DACT2):c.1784C>A (p.Ala595Glu)	DACT2 (A425E +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2292989	NM_214462.5(DACT2):c.773C>G (p.Pro258Arg)	DACT2 (P258R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2290060	NM_214462.5(DACT2):c.1171G>C (p.Gly391Arg)	DACT2 (G221R +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2286334	NM_214462.5(DACT2):c.1504A>T (p.Ser502Cys)	DACT2 (S502C +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2284405	NM_214462.5(DACT2):c.22C>T (p.Pro8Ser)	DACT2 (P8S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2269834	NM_214462.5(DACT2):c.1483A>G (p.Lys495Glu)	DACT2 (K495E +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2269343	NM_214462.5(DACT2):c.400G>A (p.Gly134Ser)	DACT2 (G134S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2259186	NM_214462.5(DACT2):c.2174C>T (p.Ala725Val)	DACT2 (A555V +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2239832	NM_214462.5(DACT2):c.2137T>C (p.Cys713Arg)	DACT2 (C543R +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2234461	NM_214462.5(DACT2):c.2167G>A (p.Gly723Arg)	DACT2 (G553R +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2234082	NM_214462.5(DACT2):c.130C>G (p.Arg44Gly)	DACT2 (R44G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2231470	NM_214462.5(DACT2):c.31G>A (p.Ala11Thr)	DACT2 (A11T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2225115	NM_214462.5(DACT2):c.2057C>A (p.Ser686Tyr)	DACT2 (S686Y +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2224751	NM_214462.5(DACT2):c.2017C>T (p.Arg673Trp)	DACT2 (R673W +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2223829	NM_214462.5(DACT2):c.1494A>T (p.Lys498Asn)	DACT2 (K498N +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2223648	NM_214462.5(DACT2):c.2047G>A (p.Glu683Lys)	DACT2 (E513K +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2223030	NM_214462.5(DACT2):c.980C>T (p.Pro327Leu)	DACT2 (P157L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2222198	NM_214462.5(DACT2):c.970G>A (p.Glu324Lys)	DACT2 (E324K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2208447	NM_214462.5(DACT2):c.1733C>A (p.Ala578Asp)	DACT2 (A408D +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2208446	NM_214462.5(DACT2):c.1106G>C (p.Gly369Ala)	DACT2 (G199A +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2203793	NM_214462.5(DACT2):c.1819C>T (p.Arg607Cys)	DACT2 (R437C +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 1807798	GRCh37/hg19 6q26-27(chr6:163181847-170919482)x1	AFDN, C6orf118 +32 more	Copy number loss	not provided	GPathogenic
Select item 1711652	GRCh37/hg19 6q26-27(chr6:163836226-170893669)x1	DACT2, AFDN +31 more	Copy number loss	not provided	GPathogenic
Select item 1711095	GRCh37/hg19 6q27(chr6:168552894-170919482)x1	C6orf120, DACT2 +11 more	Copy number loss	See cases	GPathogenic
Select item 1706509	GRCh37/hg19 6q27(chr6:167770398-170919482)x1	AFDN, C6orf120 +15 more	Copy number loss	See cases	GPathogenic
Select item 1703663	GRCh37/hg19 6q25.3-27(chr6:159121459-170919482)	ACAT2, AFDN +55 more	Copy number loss	Hydrocephalus	GPathogenic
Select item 1703662	GRCh37/hg19 6q27(chr6:168643852-170919482)	C6orf120, DACT2 +11 more	Copy number loss	Multiple congenital anomalies/dysmorphic syndrome	GPathogenic
Select item 1527327	GRCh37/hg19 6q27(chr6:167317903-170919482)	AFDN, C6orf120 +21 more	Copy number loss	not specified	GPathogenic
Select item 1527323	GRCh37/hg19 6q26-27(chr6:163290087-170919482)	AFDN, C6orf118 +32 more	Copy number loss	not specified	GPathogenic
Select item 1527321	GRCh37/hg19 6q26-27(chr6:162381975-170919482)	AFDN, C6orf118 +33 more	Copy number loss	not specified	GPathogenic
Select item 1527320	GRCh37/hg19 6q26-27(chr6:162212864-170919482)	AFDN, C6orf118 +33 more	Copy number gain	not specified	GPathogenic
Select item 1527319	GRCh37/hg19 6q26-27(chr6:161047873-170919482)	AFDN, AGPAT4 +37 more	Copy number loss	not specified	GPathogenic
Select item 1340090	GRCh37/hg19 6q27(chr6:168051206-170919482)x1	AFDN, C6orf120 +15 more	Copy number loss	not provided	GPathogenic
Select item 1339963	GRCh37/hg19 6q27(chr6:168706202-169202061)x3	DACT2, SMOC2	Copy number gain	not provided	GUncertain significance
Select item 979749	GRCh37/hg19 6q27(chr6:167580012-170919482)x1	AFDN, C6orf120 +17 more	Copy number loss	not provided	GPathogenic
Select item 979597	GRCh37/hg19 6q27(chr6:166083476-170919482)x3	AFDN, C6orf120 +28 more	Copy number gain	not provided	GLikely pathogenic
Select item 979593	GRCh37/hg19 6q27(chr6:168506420-169009954)x3	DACT2, SMOC2	Copy number gain	not provided	GLikely benign
Select item 814905	GRCh37/hg19 6q27(chr6:167440417-170919482)x1	AFDN, C6orf120 +20 more	Copy number loss	not provided	GPathogenic
Select item 814901	GRCh37/hg19 6q26-27(chr6:162661108-170919482)x1	CEP43, DACT2 +33 more	Copy number loss	not provided	GPathogenic
Select item 814897	GRCh37/hg19 6q26-27(chr6:162452035-170919482)x1	GPR31, KIF25 +33 more	Copy number loss	not provided	GPathogenic

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