ClinVar for Gene (Select 253769) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3189940	NM_182552.5(WDR27):c.833G>A (p.Arg278Gln)	WDR27 (R151Q +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3189939	NM_182552.5(WDR27):c.587C>T (p.Pro196Leu)	WDR27 (P196L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3189938	NM_182552.5(WDR27):c.2348C>T (p.Pro783Leu)	WDR27 (P656L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3189937	NM_182552.5(WDR27):c.2330G>A (p.Arg777His)	WDR27 (R586H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3189936	NM_182552.5(WDR27):c.2326G>C (p.Glu776Gln)	WDR27 (E776Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3189935	NM_182552.5(WDR27):c.2225G>T (p.Gly742Val)	WDR27 (G742V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3189934	NM_182552.5(WDR27):c.2158G>T (p.Gly720Cys)	WDR27 (G720C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3189933	NM_182552.5(WDR27):c.2158G>A (p.Gly720Ser)	WDR27 (G593S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3189932	NM_182552.5(WDR27):c.2153A>G (p.Asn718Ser)	WDR27 (N591S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3189930	NM_182552.5(WDR27):c.1929T>A (p.Phe643Leu)	WDR27 (F516L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189929	NM_182552.5(WDR27):c.1858G>T (p.Ala620Ser)	WDR27 (A429S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3189928	NM_182552.5(WDR27):c.178C>T (p.Pro60Ser)	WDR27 (P60S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3189927	NM_182552.5(WDR27):c.1503G>T (p.Lys501Asn)	WDR27 (K501N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3189926	NM_182552.5(WDR27):c.1444A>G (p.Ser482Gly)	WDR27 (S355G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3189925	NM_182552.5(WDR27):c.1414G>A (p.Val472Ile)	WDR27 (V281I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3189924	NM_182552.5(WDR27):c.1241T>C (p.Val414Ala)	WDR27 (V223A +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3189923	NM_182552.5(WDR27):c.1240G>A (p.Val414Met)	WDR27 (V414M +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3189922	NM_182552.5(WDR27):c.1036G>A (p.Glu346Lys)	WDR27 (E155K +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3148927	GRCh37/hg19 6q25.2-27(chr6:152853218-170914297)x1	ACAT2, AFDN +79 more	Copy number loss	See cases	GPathogenic
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	CEP43, DACT2 +33 more	Copy number loss	not provided	GPathogenic
Select item 2808640	NM_182552.5(WDR27):c.2524-7_2524-4del	WDR27	Deletion (intron variant)	not provided	GBenign
Select item 2685219	GRCh37/hg19 6q27(chr6:167091844-170919482)x1	AFDN, C6orf120 +22 more	Copy number loss	not provided	GPathogenic
Select item 2684468	GRCh37/hg19 6q27(chr6:169584218-169872314)x3	THBS2, WDR27	Copy number gain	not provided	GUncertain significance
Select item 2622175	NM_182552.5(WDR27):c.2150T>C (p.Leu717Pro)	WDR27 (L526P +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2620814	NM_182552.5(WDR27):c.349A>G (p.Thr117Ala)	WDR27 (T117A)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2608717	NM_182552.5(WDR27):c.2065A>G (p.Met689Val)	WDR27 (M498V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2590158	NM_182552.5(WDR27):c.766G>A (p.Gly256Arg)	WDR27 (G129R +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2589697	NM_182552.5(WDR27):c.2087A>G (p.Asn696Ser)	WDR27 (N569S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2583044	GRCh37/hg19 6q25.3-27(chr6:160952761-170892276)x1	AFDN, AGPAT4 +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	AFDN, AGPAT4 +54 more	Copy number gain	not provided	GUncertain significance
Select item 2553535	NM_182552.5(WDR27):c.1368G>C (p.Glu456Asp)	WDR27 (E265D +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2550152	NM_182552.5(WDR27):c.866C>T (p.Ser289Phe)	WDR27 (S162F +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2541907	NM_182552.5(WDR27):c.2194C>T (p.Arg732Trp)	WDR27 (R541W +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2537571	NM_182552.5(WDR27):c.54A>G (p.Ile18Met)	WDR27 (I18M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2525668	NM_182552.5(WDR27):c.2383C>T (p.Pro795Ser)	WDR27 (P668S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2520960	NM_182552.5(WDR27):c.1801C>G (p.Leu601Val)	WDR27 (L410V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2509942	NM_182552.5(WDR27):c.2374G>A (p.Ala792Thr)	WDR27 (A665T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2491086	NM_182552.5(WDR27):c.425C>A (p.Ala142Asp)	WDR27 (A142D)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2480466	NM_182552.5(WDR27):c.883T>A (p.Ser295Thr)	WDR27 (S295T +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2471658	NM_182552.5(WDR27):c.1858G>A (p.Ala620Thr)	WDR27 (A429T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2470349	NM_182552.5(WDR27):c.1348T>C (p.Tyr450His)	WDR27 (Y259H +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2456417	NM_182552.5(WDR27):c.1755C>A (p.Asp585Glu)	WDR27 (D394E +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2410455	NM_182552.5(WDR27):c.1379A>G (p.Lys460Arg)	WDR27 (K460R +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2403414	NM_182552.5(WDR27):c.2476C>T (p.His826Tyr)	WDR27 (H826Y +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2403211	NM_182552.5(WDR27):c.2420G>A (p.Arg807Lys)	WDR27 (R616K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2402205	NM_182552.5(WDR27):c.1946G>T (p.Gly649Val)	WDR27 (G458V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400477	NM_182552.5(WDR27):c.2044T>C (p.Ser682Pro)	WDR27 (S682P +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2399817	NM_182552.5(WDR27):c.821G>A (p.Arg274His)	WDR27 (R147H +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2397777	NM_182552.5(WDR27):c.560G>T (p.Arg187Leu)	WDR27 (R187L)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2396953	NM_182552.5(WDR27):c.461G>A (p.Arg154Gln)	WDR27 (R154Q)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2391456	NM_182552.5(WDR27):c.1261G>A (p.Ala421Thr)	WDR27 (A230T +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2383549	NM_182552.5(WDR27):c.1976T>C (p.Ile659Thr)	WDR27 (I468T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382113	NM_182552.5(WDR27):c.820C>T (p.Arg274Cys)	WDR27 (R147C +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2377784	NM_182552.5(WDR27):c.1048T>C (p.Cys350Arg)	WDR27 (C350R +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2356078	NM_182552.5(WDR27):c.104A>T (p.Gln35Leu)	WDR27 (Q35L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2355496	NM_182552.5(WDR27):c.1222T>C (p.Phe408Leu)	WDR27 (F340L +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2352225	NM_182552.5(WDR27):c.2398G>A (p.Ala800Thr)	WDR27 (A609T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2344832	NM_182552.5(WDR27):c.2195G>A (p.Arg732Gln)	WDR27 (R605Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2342481	NM_182552.5(WDR27):c.1964T>G (p.Leu655Arg)	WDR27 (L528R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337272	NM_182552.5(WDR27):c.509A>G (p.Lys170Arg)	WDR27 (K170R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2337191	NM_182552.5(WDR27):c.1429C>T (p.Arg477Cys)	WDR27 (R286C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2336806	NM_182552.5(WDR27):c.271G>A (p.Ala91Thr)	WDR27 (A91T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2314486	NM_182552.5(WDR27):c.1178A>G (p.Asn393Ser)	WDR27 (N266S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2305852	NM_182552.5(WDR27):c.1262C>T (p.Ala421Val)	WDR27 (A353V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2305237	NM_182552.5(WDR27):c.935T>C (p.Leu312Pro)	WDR27 (L121P +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2273216	NM_182552.5(WDR27):c.2437G>C (p.Glu813Gln)	WDR27 (E813Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2269946	NM_182552.5(WDR27):c.289A>G (p.Ile97Val)	WDR27 (I97V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2262736	NM_182552.5(WDR27):c.1070T>G (p.Val357Gly)	WDR27 (V166G +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2254303	NM_182552.5(WDR27):c.1045C>G (p.Arg349Gly)	WDR27 (R158G +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2248554	NM_182552.5(WDR27):c.1228G>A (p.Gly410Arg)	WDR27 (G219R +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2244174	NM_182552.5(WDR27):c.1181G>A (p.Arg394His)	WDR27 (R326H +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2237470	NM_182552.5(WDR27):c.911G>A (p.Ser304Asn)	WDR27 (S304N +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2225088	NM_182552.5(WDR27):c.2521C>A (p.Gln841Lys)	WDR27 (Q714K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2224863	NM_182552.5(WDR27):c.629T>G (p.Leu210Arg)	WDR27 (L210R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2212660	NM_182552.5(WDR27):c.1217C>T (p.Ser406Phe)	WDR27 (S215F +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2205808	NM_182552.5(WDR27):c.1474G>C (p.Ala492Pro)	WDR27 (A301P +2 more)	Single nucleotide variant (missense variant +1 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	PDCD2, PDE10A +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 1341232	GRCh37/hg19 6q27(chr6:170024484-170074706)x1	WDR27	Copy number loss	not provided	GLikely benign
Select item 1340986	GRCh37/hg19 6q27(chr6:168939661-170919482)x1	C6orf120, DLL1 +10 more	Copy number loss	not provided	GPathogenic
Select item 1340090	GRCh37/hg19 6q27(chr6:168051206-170919482)x1	AFDN, C6orf120 +15 more	Copy number loss	not provided	GPathogenic
Select item 1330195	GRCh37/hg19 6q27(chr6:169830713-171022896)x1	C6orf120, DLL1 +8 more	Copy number loss	Intellectual developmental disorder with seizures and language delay	GPathogenic
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 814907	GRCh37/hg19 6q27(chr6:169870610-170049330)x1	WDR27	Copy number loss	not provided	GUncertain significance
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
Select item 768123	NM_182552.5(WDR27):c.2533C>T (p.Arg845Cys)	WDR27 (R845C)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign

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